Shift 2: Friday 26 October from 07:30 until Saturday 27 October, 13:45

Posters can be mounted from 07:00 on Friday 26 October and must be removed by the end of sessions (14:00) on

Saturday 27th.

IPOPI

Poster Board Number

A SURVEY OF CANADIAN PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISEASE W. Goulstone, E. Tough (Canada)

001

PID GENIUS: A MOBILE APPLICATION BY PATIENTS FOR PATIENTS. PERSONAL ASSISTANT FOR PATIENTS WITH A PRIMARY IMMUNODEFICIENCY M. Pergent, L. Solis, J. Prevot, S. Kiema (France)

002

PRIMARY IMMUNODEFICIENCY (PI): CHRONIC AND RARE DISEASE BETWEEN DISTRESS AND RESILIENCE. A CASE REPORT A. Trizzino, S. Battiato, A. Trizzino, C. Mosa, E. Sanfratello, C. Taormina, P. D'Angelo (Italy)

003

INGID

Poster Board Number

DEVELOPING A MODEL FOR IMMUNOLOGY RESEARCH SUPPORT E. Carne, G. Rasul, C. Price (United Kingdom)

004

TRANSITIONING FROM IVIG TO SCIG: A PRIMARY IMMUNODEFICIENCY (PID) PATIENT’S PERSPECTIVE C. Collins, R. Dring, T. Allen, C. Slade, J.A. Douglass (Australia)

005

A MULTI-CENTRE QUALITATIVE STUDY TO EXPLORE EXPERIENCES OF INDIVIDUALS LIVING WITH SECONDARY IMMUNODEFICIENCY WHO RECEIVE SUBCUTANEOUS IMMUNOGLOBULIN THERPAY K. Henderson (United Kingdom)

006

IV IG REACTIONS IN 47 PATIENTS OF PRIMARY IMMUNODEFICIENCY Z. Poursheikhi (Iran)

007

BEST TREATMENT FOR AN AUTISITIC PATIENT TRANSITIONING TO ADULT SERVICES G. Rasul, E. Carne (United Kingdom)

008

INTEGRATED CARE PROGRAM FOR CHILDREN WITH PRIMARY IMMUNODEFICIENCY. THE “I'M NOT ALONE" PROJECT S. Ridao Manonellas, A. Fábregas Bofill, M. García Prat, J.G. Rivière, A. Martín-Nalda, P. Soler-Palacín (Spain)

009

EXPERIENCE IN SWITCHING TO REPLACEMENT WITH FACILITATED SUBCUTANEOUS IMMUNOGLOBULINS IN A TERTIARY HOSPITAL FROM CANTABRIA (NORTHERN SPAIN) C. Salcedo, B. Mallagaray Saavedra, J.G. Ocejo-Vinyals, M. López Hoyos (Spain)

010

NURSING-CARE IN PRIMARY IMMUNODEFICIENCIES DURING TRANSITIONAL CARE: AN AUDIT ABOUT THE PATIENTS’ EXPERIENCE M. Tabini, D. Bellotta, S. Orlando, G. Fabio, M. Carrabba (Italy)

011

REPLACEMENT THERAPY WITH SUBCUTANEOUS IMMUNOGLOBULINS: THE NEEDING OF A PERIODIC RE-TRAINING TO THERAPY M. Tabini, D. Bellotta, S. Orlando, G. Fabio, M. Carrabba (Italy)

012

PREVALENCE AND IMPACT OF FATIGUE IN PEDIATRIC PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISORDERS (FATPID STUDY): A QUANTITATIVE SINGLE CENTER PILOT STUDY E. Visser, L. Van der Knaap, K. Stol, A. Van Rossum, P. Fraaij, C. Vermont (The Netherlands)

013

IMPACT OF FSCIG REPLACEMENT THERAPY IN PATIENTS’ DAILY LIFE E. Zaimaki, P. Giannakopoulou, S. Tantou, A.M. Tsilia, M. Tzanoudaki, M. Kanariou (Greece)

014

AUTOINFLAMMATORY DISORDERS

Poster Board Number

CNV ANALYSIS FROM TARGETED NGS DATA: CASE REPORT ON A PATIENT WITH A LARGE DELETION IN THE NLRP12 GENE B. Bangol, K. Starz, M. Ziegler, D. Becker, J. Schiller, S. Eilitz, H.G. Klein (Germany)

015

BIALLELIC MUTATIONS IN HOIP PRESENTING WITH COMBINED AUTOINFLAMMATION AND IMMUNODEFICIENCY H. Oda, D. Beck, H. Kuehn, L. Notarangelo, S. Rosenzweig, D. Kastner, I. Aksentijevich (USA)

016

ISG15 DEFICIENCY PRESENTING WITH AUTOINFLAMMATORY SYMPTOMS INVOLVING BRAIN AND SKIN M. Bravo, S. Murias, M. Feito, Y. Bravo, M. Bret, R. De Lucas, A. Remesal, R. Rodríguez-Pena, E. López-Granados (Spain)

017

NEW DIAGNOSIS OF PAAND IN A PATIENT WITH DERMATOLOGICAL, JOINT AND SKELETAL MUSCLE AND GASTROINTESTINAL AUTOINFLAMMATION. J.L. Valdivieso Shephard, C. Plasencia, L.Y. Bravo Gallego, A. Colmenero Velázquez, C. Gianelli, R. Rodríguez Pena, E. López Granados, M. Bravo García-Morato (Spain)

018

DISTINCT CEREBROVASCULAR FEATURES IN PATIENTS WITH ADA2 DEFICIENCY R. Caorsi, M.S. Severino, C. Gandolfo, A. Ravelli, A. Rossi, M. Gattorno (Italy)

019

MAGIC SYNDROME (MOUTH AND GENITAL ULCERS WITH INFLAMED CARTILAGE) ASSOCIATED WITH G6PD DEFICIENCY IN AN ALGERIAN PATIENT. G. Chalhoub (France)

020

AUTOINFLAMMATION CAUSED BY NFAT5 DEFICIENCY. N.V. Kirk, M. Bernth Jensen, M.S. Petersen, C.S. Larsen, M. Christiansen (Denmark)

021

VERY EARLY ONSET PSORIASIS: WHICH GENES CAN WE FOUND? A.I. Cordeiro, M.J. Paiva Lopes, C. Neves, J. Farela Neves (Portugal)

022

A NOVEL LRBA MUTATION PRESENTS WITH NORMAL CTLA-4 AND OVERACTIVE TH17 IMMUNITY M. De Bruyne, D.J. Bogaert, K. Venken, L. Van den Bossche, C. Bonroy, L. Roels, S.J. Tavernier, E. Van de Vijver, A. Driessen, M. Van Gijn, L. Gámez-Diaz, D. Elewaut, B. Grimbacher, N. Moes, M. Dullaers, F. Haerynck (Belgium)

023

DEFICIENCY OF IL-1 RECEPTOR ANTAGONIST COULD HAVE DIFFERENT THAN CLASSIC PHENOTYPE D. El-Ghoneimy (Egypt)

024

GENERALIZED PUSTULAR PSORIASIS IN A CHILD: THINK TO DITRA? F.Z. Elfatoiki, R. Razanapinaritra, I. Benhsain, F. Ailal, A. Bousfiha, H. Fouzia, S. Chiheb (Morocco)

025

NH1N1 INFLUENZA AND RISK OF BACTERIAL CO INFECTIONS AMONG ACUTELY IMMUNOCOMPROMISED CHILDREN. A. Fatima, S.S.A. Zaidi (Pakistan)

026

CLINICAL STUDY OF JAPANESE PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER: POSSIBLE ROLES OF MUTATIONS IN OTHER AUTOINFLAMMATORY SYNDROME RELATED GENES K. Fujimoto, Y. Hidaka, Y. Yoshida, M. Hayashi, S. Sugi, T. Koga, S. Kaieda, S. Yamasaki, H. Tomoaki, H. Ida (Japan)

027

SUCCESSFUL TREATMENT WITH ETANERCEPT OF AN ADOLESCENT WITH SUSPECTED TUMOUR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME ACCOMPANIED WITH INCREASED SERUM IGD A. Gagro, A.M. Pasini (Croatia)

028

IDENTIFICATION OF A NOVEL MUTATION IN EXON 5 OF NLRP3 GENE IN A PATIENT WITH SUSPECTED CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME E. Garcia, M. Di Natale, J. Gil Herrera, J. Carbone Campoverde, C. Rodríguez Sainz, E. Fernández-Cruz Pérez (Spain)

029

EARLY ONSET TRNT1 DEFICIENCY (SIFD) MAY IMPROVE AFTER ADOLESCENCE E. Hernández Brito, S. De la Iglesia, F. Fernández-Fuertes, E. Colino, C. Acosta-Fleitas, J.I. Aróstegui, C. Rodríguez-Gallego (Spain)

030

THREE-YEAR CLINICAL FOLLOW-UP OF A PATIENT WITH AICARDI-GOUTIÈRES SYNDROME CAUSED BY TREX1 MUTATION S. Huljev Frkovic, M. Frkovic, M. Jelusic (Croatia)

031

FAMILIAL MEDITERRANEAN FEVER IN SLOVAKIA – NOT SO RARE DISEASE AS EXPECTED - EXPERIENCE OF NATIONAL CENTER FOR PERIODIC FEVER SYNDROMES M. Jesenak, K. Hrubiskova, L. Kapustova, P. Banovcin (Slovak Republic)

032

MEVALONATE KINASE DEFICIENCY/ HYPER-IGD SYNDROME IN SLOVAKIA (ONE CENTRE EXPERIENCE) L. Kapustova, M. Jeseňák, M. Škereňová, M. Kostková, P. Bánovčin (Slovak Republic)

033

COMPOUD HETEROZYGOUS PSTPIP1 MUTATION IN AUTOSOMAL DOMINANT PAMI SYNDROME A. Kruchen, S. Maier, R. Grosse, L. Froh, D. Holzinger, U. Zur Stadt, K. Lehmberg, I. Müller (Germany)

034

ADA2 DEFICIENCY PRESENTING AS POLYCLONAL LYMPHOPROLIFERATION AND LATE ONSET REFRACTORY PURE RED CELL APLASIA T. Le Voyer, D. Boutboul, G. Boursier, C. Fieschi, S. Georgin-Lavialle, S. Latour, G. Le Guenno (France)

035

PROLIDASE DEFICIENCY MIMICKING SJIA WITH LUNG INVOLVEMENT PARTIALLY RESPONDING TO JAK1/2 TREATMENT A.L. Lemarquis, J.A. Gudmundsdottir, G.B. Johannesdottir, V. Sula, B.R. Ludviksson, A. Fisher, A. Haraldsson (Iceland)

036

DIFFUSE CUTANEOUS VASCULITIS AS THE FIRST MANIFESTATION OF IL7-RA DEFICIENCY IN BRAZIL L. Mendonca, D. Tadeu Gomes Carvalho, F.J. Almeida, E. Naaman Berezin, M.A. Palazzi Sáfadi, S. Brasilia Sacchetti, A. Guariento, F. Caroli, A. Grossi, M. Gattorno, I. Ceccherini (Italy)

037

NOVEL MUTATION AFFECTING MEFV GENE (P.Q440X) ASSOCIATED WITH SEVERE REFRACTORY PYRIN-ASSOCIATED AUTOINFLAMMATION WITH NEUTROPHILIC DERMATOSIS (PAAND) SYNDROME: WHERE IS THE NONSENSE MEDIATED DECAY? L. Mendonca, F. Caroli, A. Grossi, M. Gattorno, I. Ceccherini (Italy)

038

HIDRADENITIS SUPPURATIVA IN KERATITIS-ICHTHYOSIS-DEAFNESS (KID) SYNDROME: CASE REPORT OF THE FIRST GENETIC IDENTIFIED CASE IN BRAZIL AND GENOTYPE VERSUS PHENOTYPE LITERATURE REVIEW L. Mendonca, F. Caroli, M. Gattorno, S. Pereira, E. Paula Silveira Lacerda, M. Ianhez, I. Ceccherini (Italy)

039

HOMOZYGOUS NLCR4 P.A160T ASSOCIATED WITH ENTEROCOLITIS AND IMMUNE DYSREGULATION SYNDROME L. Mendonca, F. Caroli, A. Grossi, A. Pontillo, M. Toledo Barros, I. Ceccherini, M. Gattorno (Italy)

040

AIP-1 DEFICIENCY DUE TO A NOVEL HOMOZYGOUS WDR1 MUTATION IN A CHILD WITH RECURRENT INFECTIONS, SEVERE NEUTROPHIL DYSFUNCTION, THROMBOCYTOPENIA AND RECURRENT INFLAMMATORY MANIFESTATIONS A. Mensa-Vilaró, E. Iglesias, A. Vlagea, M. Solís-Moruno, J.M. Mosquera, V. Bittermann, J. Calzada, L. Alsina, A. Deyà, R. Lara, S. Plaza, H. Martínez-Banaclocha, M. Juan, J. Yagüe, F. Casals, C. Fortuny, A. Vicente, J. Anton, P. Pelegrín, J.I. Aróstegui (Spain)

041

A CASE REPORT OF BIALLELIC MUTATIONS IN PRF1 CAUSING FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 2 (FHL2) WITH PREDOMINANTLY NEUROLOGICAL SYMPTOMS L. Merz, M. Hannibal, M. Vander Lugt, K. Payal, K. Walkovich (USA)

042

QUANTITATIVE EVALUATION OF MRNA EXPRESSION OF MEFV GENE PRODUCT PYRIN IN HUMAN TISSUES N. Nakano, N. Kaneko, M. Kurata, T. Yamamoto, E. Ishii, K. Agematsu, A. Yachie, K. Mitiga, K.I. Yoshiura, T. Urano, T. Koga, A. Kawakami, J. Masumoto (Japan)

043

A CRUCIAL ROLE FOR WISKOTT ALDRICH SYNDROME PROTEIN IN AUTOPHAGY AND INFLAMMASOME ACTIVITY IN INNATE IMMUNE CELLS L. Rivers, P. Lee, D. Lobarto-Marquez, N. Pramanik, A. Sirianni, V. Daza-Cajigal, A. Cavazza, G. Bouma, D. Moulding, K. Hultenby, L. Westerberg, M. Hollinshead, Y.L. Lau, S. Burns, S. Mostowy, M. Bajaj-Elliott, A.J. Thrasher (United Kingdom)

044

DOUBLE LOW-PENETRANCE HETEROZYGOUS MUTATIONS IN NLRP3 AND TNFRSF1A GENES IN A PATIENT WITH A PERIODIC FEVER SYNDROME: CAPS OR TRAPS? C. Rodriguez-Sainz, E. Seoane Reula, E. García Martínez, M. Di Natale, S. Padure, M.A. Mejía González, J. Gil Herrera, J. Carbone Campoverde, E. Fernández-Cruz (Spain)

045

DIFFUSE CUTANEOUS MASTOCYTOSIS IN A TEN-MONTH OLD BOY AT THE HOSPITAL UNIVERSITARIO DE NEIVA, COLOMBIA D.M. Salgado, M.R. Vega, J.L. Sanchez, J.A. Rodriguez (Colombia)

046

A MUTATION OUTSIDE THE DIMERIZATION DOMAIN CAUSING ATYPICAL STING-ASSOCIATED VASCULOPATHY IN INFANCY R. Saldanha, K. Balka, F. Moghaddas, S. Davidson, D. De Nardo, B. Wainstein, M. Wong, S. Masters, P. Gray (Australia)

047

CHRONIC NON-BACTERIAL OSTEOMYELITIS : CASE SERIES AND LITERATURE REVIEW V. Selmanovic, A. Omercahi-Dizdarevic, A. Cengic, I. Sefic-Pasic, M. Bukvic (Bosnia - Herzegovina)

048

MUTATION IN NLRP12, AS CAUSE OF PERIODIC FEVER SYNDROME A.G. Seminario, I. Moreira, M.S. Caldirola, L. Regairaz, M.I. Gaillard, J. Chou, R. Geha, L. Bezrodnik (Argentina)

049

DISEASE-ASSOCIATED MONOCYTE/MACROPHAGE SPECIFIC CYTOKINE SECRETION PATTERNS IN FMF PATIENTS T. Shiba, T. Tanaka, H. Shibata, K. Izawa, T. Yasumi, R. Nishikomori, M. Saito, H. Ida, T. Heike (Japan)

050

FAMILIAL MEDITERRANEAN FEVER AND MUCKLE-WELLS OVERLAP SYNDROME – CASE REPORT F. Vale, I. Casella, B. Ascensão, T. Azevedo, N. Luis, A.C. Gonçalves, V. Laerte, A.P. Brito, J. Sá, J. Poças (Portugal)

051

INNATE IMMUNITY

Poster Board Number

INHERITED P40PHOX DEFICIENCY CONFER A NON-CLASSIC CHRONIC GRANULOMATOUS DISEASE WITH DISSEMINATED HISTOPLASMOSIS IN A COLOMBIAN CHILD PATIENT C. Arango-Franco, A. Nieto-Patlan, M. Moncada-Velez, J. Alvarez, C. Oleaga-Quinta, C. Deswarte, F. Cabarcas, C. Garces, J. Orrego, J. Alzate, J.L. Casanova, J. Bustamante, J. Franco, A. Arias (Colombia)

053

EXOME SEQUENCING REVEALS KNOWN AND NOVEL MUTATIONS IN CYBA AND CYBB THAT CONFER CHRONIC GRANULOMATOUS DISEASE (CGD) IN COLOMBIAN PATIENTS M. Molina, D. Arboleda, J. Alzate, F. Cabarcas, C. Olmos, M. Alvarez, J. Orrego, J. Lopez, M. Olaya, M. Moncada, J. Franco, A. Arias (Colombia)

054

ANTI-N-METHYL-D-ASPARTATE RECEPTOR ENCEPHALITIS ASSOCIATED WITH IRAK4 DEFICIENCY T. Asano, S. Nishimura, Y. Kobayashi, M. Tsumura, N. Ishikawa, H. Ohnishi, H. Takada, V. Sancho-Shimizu, K. Moriya, A. Puel, C. Picard, S.R. Irani, J.L. Casanova, S. Okada, M. Kobayashi (Japan)

055

IDENTIFICATION OF NOVEL MUTATIONS IN GENES INVOLVED IN INNATE IMMUNITY IN PATIENTS WITH AUTOIMMUNE ADDISON’S DISEASE S. Aslaksen, A.B. Wolff, E.S. Husebye, E. Bratland (Norway)

056

CHRONIC GRANULAMATOUS DISEASE: THE PROGNOSTIC EFFECT OF MOLECULAR PATHOLOGIES E. Azarsiz, N. Karaca, G. Aksu, N. Kutukculer (Turkey)

057

INTRACELLULAR STAINING OF SUBUNITS OF NADPH OXIDASE ENZYME PREDICTS DEFECTIVE GENE IN PATIENTS WITH CHRONIC GRANULOMATOUS DISEASE E. Baris, I. Ogulur, B. Akcam, D. Baser, A. Kiykim, N. Kasap, Y. Koker, B. Saraymen, G. Yesil, A. Ozen, E. Karakoc-Aydiner, S. Baris (Turkey)

058

MOTHERS OF AUTOSOMAL RECESSIVE CHRONIC GRANULOMATOUS DISEASE PATIENTS DO NOT SHOW AUTOIMMUNE FINDINGS IN CONTRAST TO X-LINKED PATIENTS E. Baris, A. Kiykim, E. Nain, G. Akgun, I. Ogulur, D. Baser, Y. Koker, B. Saraymen, G. Yesil, A. Ozen, S. Baris, E. Karakoc-Aydiner (Turkey)

059

HEMOPHAGOCYTIC SYNDROME IN A CHILD WITH MYCOBACTERIA INFECTION J. Barroso Santos, M.A. Yamazaki Nakashimada, S.E. Espinosa Padilla, L. Blancas-Galicia, E. Venegas Montoya, J.C. Bustamante, M. Espinosa (Mexico)

060

DEFECTS OF THE INTERLEUKIN-12/ INTERFERON-GAMMA AXIS: MENDELIAN PREDISPOSITION TO MYCOBACTERIAL DISEASE IN A CHILD. CASE REPORT J. Barroso Santos, B. Quiroz Viveros, O.J. Saucedo Ramirez, M.A. Yamazaki Nakashimada, S.E. Espinosa Padilla, M.I. Espinosa Navarro, L. Blancas Galicia (Mexico)

061

CHRONIC MUCOCUTANEOUS CANDIDIASIS ABOUT 11 CASES I. Benhsaien, F. Ailal, A. Puel, J.L. Casanova, A.A. Bousfiha (Morocco)

062

CLINICAL MANIFESTATIONS OF CHRONIC GRANULOMATOUS DISEASE ABOUT 27 CASES. I. Benhsaien, F. Ailal, J. Najib, A.A. Bousfiha (Morocco)

063

PROFILE OF FUNGAL INFECTIONS IN CHILDREN WITH CHRONIC GRANULOMATOUS DISEASE (CGD) AT CHANDIGARH, NORTH INDIA D. Bhattarai, P. Vignesh, H. Kaur, S.M. Rudramurthy, A. Chakrabarti, A. Rawat, S. Singh (India)

064

FOLLOW UP OF A PATIENT WITH A LEUKOCYTES ADHESION DEFICIENCY TYPE 1 DURING 17 YEARS O. Boyarchuk, L. Volyanska, E. Burbela, L. Dmytrash (Ukraine)

065

AUTOSOMAL RECESSIVE CHRONIC GRANULOMATOUS DISEASE IN A SPANISH COHORT L.Y. Bravo Gallego, J.L. Valdivieso Shepard, A. Colmenero Velázquez, R. Pérez de Diego, A. López Lera, A. Martínez-Feito, C. Gianelli, R. Rodríguez Pena, E. López Granados, M. Bravo García-Morato, A. Ferreira Cerdán (Spain)

066

X-LINKED CHRONIC GRANULOMATOUS DISEASE AND MCLEOD PHENOTYPE. A. Colmenero Velázquez, L.Y. Bravo Gallego, M. Bravo García-Morato, A. Viejo Llorente, A. Méndez Echevarría, J. Valdivieso Shephard, C. Gianelli, A. Ferreira Cerdán, E. López Granados, R. Rodríguez Pena (Spain)

067

WHOLE EXOME SEQUENCING OF PATIENTS WITH PARALYTIC POLIO MYELITIS IDENTIFIES NOVEL RARE VARIANTS IN GENES ASSOCIATED WITH/ENCODING MOLECULES/PROTEINS OF INNATE IMMUNE DEFENSES (AND BEYOND) N.S. Brinck Andersen, S. Müller Larsen, S. Konstantin Nissen, P. Höllsberg, T. Vorup-Jensen, T. Hyrup Mogensen (Denmark)

068

INVESTIGATING THE ROLE OF RNA POLYMERASE III PRIMARY IMMUNODEFICIENY IN IDENTICAL TWINS WITH VARICELLA ZOSTER CENTRAL NERVOUS SYSTEM VASCULITIS

069

M. Carter-Timofte, A. Hansen, M. Mardahl, S. Fribourg, F. Rapaport, S.Y. Zhang, J.L. Casanova, S.R. Paludan, M. Christiansen, C.S. Larsen, T.H. Mogensen (Denmark)

CLINICAL, IMMUNOLOGICAL AND MOLECULAR SPECTRUM OF MSMD PATIENTS WITH IL12RΒ1 DEFICIENCY FROM INDIA. A. Dalvi, M. Gupta, J. Aluri, P. Taur, M. Desai, H. Prasad, I. Ck, S. Bhat, M. Madkaikar (India)

070

POTENTIAL ROLE OF NATURAL KILLER CELLS IN LRBA DEFICIENCY S. Cinar, M.Y. Gelmez, N. Akdeniz, G. Ozcit, A. Kiykim, A.O. Ozen, S. Baris, E. Karakoc Aydiner, G. Deniz (Turkey)

071

MOLECULAR MECHANISMS OF SEVERE CONGENITAL NEUTROPENIA (SCN) ASSOCIATED WITH DEFICIENCIES IN VACUOLAR PROTEIN SORTING 45 HOMOLOG (VPS45) L. Frey, N. Zietara, M. Lyszkiewicz, Y. Liu, J. Puchalka, F. Giesert, W. Wurst, M. Dahlhoff, E. Wolf, R. Somech, C. Klein (Germany)

072

VERY EARLY-ONSET INFLAMMATORY MANIFESTATIONS OF CHRONIC GRANULOMATOUS DISEASE N. Guirat, R. Kouki, M. Ouederni, M. Ben Khaled, F. Mellouli, M. Bejaoui (Tunisia)

073

AUTOIMMUNITY AND TOLERANCE DEFECTS IN TWO BOYS WITH TLR7 MUTATIONS A. Hayward, C. Cunningham-Rundles, E. Meffre (USA)

074

INTERLEUKIN 12 RECEPTOR BETA 1 DEFICIENCY: SINGLE CENTER EXPERIENCE Ö. Kaba, M. Kara, S. Hancerli Torun, A. Somer, N. Salman (Turkey)

075

CASE SERIES OF WISCOTT ALDRICH SYNDROME F. Karbasian, D. Babaie, M. Keramatipour, M. Mesdaghi, B.S. Shamsian, Z. Daneshmandi, M. Saberi, A. Karamzade, Z. Chavoshzadeh (Iran)

076

HEREDITARY ANGIOEDEMA IN CHILDREN: A CLINICAL EXPERIENCE OVER 20 YEARS FROM NORTH WEST INDIA A. Kaur, A. Rawat, D. Sharma, A. Jindal, R. Garg, D. Suri, A. Gupta, I. Panigrahi, S. Dogra, B. Saikia, R. Minz, S. Singh (India)

077

CAN A SELF-EATING DISORDER PREDISPOSE TO PARALYTIC POLIOMYELITIS? S.M. Larsen, N.S.B. Andersen, S.K. Nissen, M. Mardahl, T.H. Mogensen (Denmark)

078

CLINICAL, IMMUNOLOGICAL, AND CELLULAR PHENOTYPES OF 19 PATIENTS FROM 14 KINDREDS WITH AUTOSOMAL RECESSIVE STAT1 DEFICIENCY T. Le Voyer, J.J. Valentine, S. Sakata, S. Nishimura, E.S. Ana, S. Anna, A.S. Bandar, E.G. Hatice, T. Prasad, C. Mette, A. Mohammed, A. Peter D, B. Raffaele, A. Laia, D. Mukesh, B.D. Stephanie, A.M. Hamoud, O. Satoshi, C. Jean-Laurent (France)

079

TH1 AND TH17 HOST IMMUNITY AGAINST TALAROMYCES MARNEFFEI - INSIGHTS FROM MONOGENIC IMMUNODEFICIENCY SYNDROMES P. Lee, M. Lao-araya, J. Yang, K.W. Chan, W. Yang, M. Trakultivakorn, Y.L. Lau (Hong Kong S.A.R.)

080

NADPH OXIDASE 2 DERIVED REACTIVE OXYGEN SPECIES PROMOTE CD8+ T CELL EFFECTOR FUNCTION C. Liu, A. Chernatynskaya, B. Newby, J. Chen, T. Brusko, Y. Xu, N. Morgan, W. Reeves, H. Tse, J. Leiding, C. Mathews (USA)

081

SERUM MYELOPEROXIDASE AND ELASTASE LEVELS IN PATIENTS WITH HEREDITARY ANGIOEDEMA J. Litzman, R. Hakl, P. Bejdak, M. Litzman, M. Vlkova (Czech Republic)

082

CHRONIC GRANULOMATOUS DISEASE IN PORTUGAL 2018 – A MULTICENTER STUDY M. Coelho, M. Guedes, J.G. Marques, S.L. Silva, J. Neves, S. Lemos, F. Regateiro, E. Faria, B. Vitor, E. Neves, J. Vasconcelos, L. Marques (Portugal)

083

GATA-2 DEFICIENCY: EXTENDING THE SPECTRUM OF THE DISEASE WITH A REPORT OF PATIENTS FROM A DERMATOLOGICAL AMBULATORY OF PRIMARY IMMUNODEFICIENCIES D. Moraes Vasconcelos, D.L. Bertolini-, M. Domingues Ferreira, N. Chuffi-Barros, I. Bendit, E. Velloso, L. Silva, A. Duarte (Brazil)

084

CELL-FREE DNA-PRETREATMENT OF MICE WITH DSS-COLITIS EXERTS HOST-PROTECTIVE EFFECT VIA AUTOPHAGY AND TLR9-SIGNALING F. Sipos, A. L. Kiss, G. Műzes (Hungary)

085

DEFICIENCY OF GATA-2 AN ENTITY OF MULTIPLES PHENOTYPES. CLINICAL CASE P. O Farrill, L. Berron, N. Segura, G. Lopez, D. Herrera (Mexico)

086

AUTOIMMUNITY IN ADULT PATIENTS WITH CHRONIC MUCOCUTANEOUS CANDIDIASIS GOF MUTATION IN STAT 1 P. O Farrill, M. Hernández Ojeda, L. Blancas Galicia, A. Puel, N.H. Segura Méndez (Mexico)

087

A NOVEL FORM OF PARTIAL RECESSIVE IFN-GAMMA RECEPTOR 2 DEFICIENCY CAUSED BY MUTATIONS OF THE INITIATION AND SECOND CODON C. Oleaga, C. Deswarte, A. Metin, I. Chikkanayakanahalli, S. Kınık Yüksek, A. Nieto-Patlán, A. Guérin, B. Gülhan, S. Murthy, A. Özkaya Parlakay, R. Martínez-Barricarte, L. Abel, S. Boisson-Dupuis, M. Moncada-Vélez, X.F. Kong, J.L. Casanova, J. Bustamante (France)

088

GENETIC, IMMUNOLOGICAL AND CLINICAL FEATURES OF PATIENTS WITH MYCOBACTERIAL INFECTIONS DUE TO INHERITED GATA2 DEFICIENCY C. Oleaga, E.B. De Oliveira-Júnior, J. Rosain, L. Branco, A.A. Arias, M. Guedes, R.A. Campos, G. Lopez-Herrera, P. O’Farrill Romanillos, L.F. Jobim, M. Pasquet, J. Franco Restrepo, F.O. Ardeniz, C. Rodriguez Gallego, J. Vasconcelos, C. Fieschi, M. Martinez-Gallo, J.L. Casanova, J. Bustamante (France)

089

SEVERE CONGENITAL NEUTROPENIA: CLINICAL MANIFESTATIONS AND OUTCOME M. Ouederni, S. Jouhari, M. Ben Khaled, S. Rekaya, R. Kouki, N. Dhouib, F. Mellouli, M. Bejaoui (Tunisia)

090

UNUSUAL BUT TYPICAL FOR COMMON VARIABLE IMMUNODEFICIENCY (CVID) INFECTIONS - CASE REPORT A. Lewandowicz-Uszyńska, G. Pasternak, A. Kuraszewicz (Poland)

091

FAMILIAL PULMONARY ALVEOLAR PROTEINOSIS CAUSED BY MUTATION IN CSF2RA: CASE REPORT L. Perez, M. Nieto, M. Griese, A. Schieber, F. Romagnoli, H. Botto (Argentina)

092

ALPHA3 INTEGRIN DEFICIENCY IS ASSOCIATED WITH ABNORMAL CHEMOTAXIS AND IMMUNODEFICIENCY M. Pinelli, F. Todaro, D. De Rose, D. Moratto, R. Badolato, G. Zuin, S. Sozzani, L. Larizza (Italy)

093

MYD88 DEFICIENCY IN A PATIENT WITH DELAYED UMBILICAL CORD SEPARATION AND BCG ADENITIS CAUSED BY A NOVEL TRUNCATION MUTATION C. Platt, M. Seleman, J. Wallace, J. Chou, N. Al Sukaiti, R. Geha (USA)

094

HEALTH RELATED QUALITY OF LIFE AND EMOTIONAL HEALTH IN PATIENTS WITH CHRONIC GRANULOMATOUS DISEASE: A MULTICENTER STUDY OF THE ITALIAN PRIMARY IMMUNODEFICIENCY NETWORK (IPINET) B. Martire, M. Sangerardi, M.G. Foschino, A. Plebani, A.R. Soresina, A. Finocchi, G. Dimatteo, C. Pignata, E. Cirillo, A. Aiuti, M. Migliavacca, A. Trizzino, A. Bertaina, M. Gattorno, M. Decarli, G. Fabio, F. Pulvirenti (Italy)

095

INFECTIOUS AND NON-INFECTIOUS SYMPTOMS IN A COHORT OF FEMALE CARRIERS OF CYBB GENE MUTATIONS, CAUSATIVE OF CHRONIC GRANULOMATOUS DISEASE (CGD) D. Yukhacheva, A. Roppelt, A. Laberko, V. Burlakov, E. Deripapa, Y. Rodina, T. Varlamova, E. Raykina, N. Davydova, I. Demina, A. Popov, A. Shcherbina (Russia)

096

THE GENETIC BASIS FOR RECURRENT HERPES VIRUS MENINGITIS – A ROLE FOR DEFECTIVE AUTOPHAGY? A. Schneider Hait, T. Hyrup Mogensen, S. Riis Paludan (Denmark)

097

TOLL-LIKE RECEPTOR 2 EXPRESSION ON MONOCYTES FROM PATIENTS WITH MYCOBACTERIUM BOVIS BCG-ASSOCIATED SUPPURATIVE LYMPHADENITIS K.S. Shin (Republic of Korea)

098

QUALITY OF LIFE OF PATIENTS’ FAMILIES’ USING HOSPITAL-BASED INTRAVENOUS IMMUNOGLOBULIN AND HOME-BASED SELF-ADMINISTRATED SUBCUTANEOUS IMMUNOGLOBULIN IN POLISH CHILDREN WITH PRIMARY IMMUNODEFICIENCY DISEASES A. Sobocińska, I. Stelmach (Poland)

099

HUMAN GENETIC BASIS OF SEVERE PYOGENIC INFECTIONS IN CHILDHOOD A. Spaan, F. Vandenesch, C. Picard, B. Boisson, J.L. Casanova (USA)

100

IDENTIFICATION OF MUTATIONS IN INTERFERON REGULATORY FACTOR 7 IN AN ADULT PATIENT WITH SEVERE INFLUENZA INFECTION. M.M. Thomsen, S.E. Jørgensen, H.H. Gad, L.K. Dalskov, M. Christiansen, M. Storgaard, R. Hartmann, T.H. Mogensen (Denmark)

101

VARIANT LOCATED IN C3A ANAPHYLATOXIN RESULTS IN HYPERACTIVATION OF C3 AND ASSOCIATES WITH AHUS AND C3G. A.V. Marin, D. Chacón, Ó. Sabúz, E. Arjona, H. Martín Merinero, S. Rodríguez de Córdoba, J.R. Regueiro, A. Tortajada (Spain)

102

CHARACTERIZATION OF REVERTANT CELLS IN A PATIENT WITH X-LINKED ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY T. Wada, Y. Matsuda, T. Shirahashi, Y. Mitani, T. Toma, O. Ohara, K. Tanita, H. Kanegane, A. Yachie (Japan)

103

ALTERED NK CELL HOMEOSTASIS IN CVID PATIENTS D. Friedmann, S. Unger, B. Zecher, M. Hofmann, K. Warnatz (Germany)

104

ACETAMINOPHEN TREATMENT REVERSIBLY INHIBITS THE NEUTROPHIL OXIDATIVE BURST ASSAY C. Yee, E. Tsitsikov, F. Bonilla, C. Platt (USA)

105

INFLAMMATORY BOWEL DISEASE WITH VERY EARLY ONSET: MUTATION IN THE IL-10 SIGNALLING PATHWAY M. Zelieskova, Z. Havlicekova, M. Jesenak (Slovak Republic)

106

INTERFERON GAMMA DEFICIENCY REVEALED BY BCGOSIS AND COMPLICATED BY HLH F. Ailal, I. Benhsaien, J. Bustamante, J.L. Casanova, A.A. Bousfiha (Morocco)

318

HEREDITARY PATTERN OF CHRONIC GRANULOMATOUS DISEASE IN MEXICO L. Blancas-Galicia, C. Deswarte, M.A. Yamazaki-Nakazhimada, F. Saracho-Weber, M.N. Guzman Hernández, T. Staines Boone, F. Espinosa Rosales, S. Espinosa Padilla, J. Bustamante (Mexico)

319

INCREASED MYCOBACTERIAL SUSCEPTIBILITY AND AUTOINFLAMMATORY PHENOTYPE DUE TO COMBINATION OF IFNGR1 AND NOD2 MUTATIONS Z. Paračková, M. Bloomfield, A. Klocperk, I. Zentsová, P. Vrabcová, R. Zachová, M. Svatoň, E. Froňková, T. Kalina, A. Šedivá (Czech Republic)

320

OTHERS 2

Poster Board Number

PRIMARY OR SECUNDARY HYPOGAMMAGLOBULINEMIA: DIFFICULT TO RESOLVE S. Andrejevic, B. Bonac-Nikolic, R. Mijanovic, P. Vladimir (Serbia)

107

POOR IMMUNE RECONSTITUTION AFTER LATE HEMATOPOIETIC STEM CELL TRANSPLANTATION IN PATIENT WITH MHC CLASS II DEFICIENCY N. Kechout, R. Boukari, K. Saidani, H. Boudiaf, S. Ladj, S. Otsmane, N. Attal (Algeria)

108

UPDATE ON ALGERIAN REGISTRY OF PRIMARY IMMUNODEFICIENCIES R. Boukari, A. Yagoubi, A. Boufersaoui, M.L. Atif, L. Smati, K.N. Benhalla, S. Touri, N. Cherif, S. Melzi, L. Oukrif, M.Y. Ferhani, S. Ladj, R. Belbouab, N. Kechout, R. Djidjik, C. Boubidi, A. Guedouar, W. Drali, A. Dehimi, A. Mohand Oussaid, A. Tahiat, L. Kedji, F. Benhassine, S. Naamoune, K. Djenouhat (Algeria)

109

ADVERSE REACTIONS OF IMMUNOGLOBULIN INFUSIONS IN PRIMARY IMMUNODEFICIENT PATIENTS C. Piza, M.C. Ortega, L. Bezrodnik, G. Seminario, E. Mansour, C. Cuellar, P. Roxo-Jr, H. Chong-Neto, B. Costa-Carvalho, A. Condino-Neto (Brazil)

110

LOSS OF IMMUNE TOLERANCE IN PATIENTS WITH PRIMARY HUMORAL IMMUNODEFICIENCY D. Deleanu, L. Damian, F. Vasile (Romania)

111

THE FIRST REPORT OF PRIMARY IMMUNODEFICIENCIES (PIDS) FROM SUDAN N. Erwa, T. Intisar, R. Goda, N. Ahmed, O. Abdelmajeed, S. Elmahdi, F. Nagi, T. Zean Elabdeen (Sudan)

112

PID DIAGNOSED BEYOND 50 YEAR OLD AGE: CLINICAL FEATURES OF 26 PATIENTS M. Geisler, T. Moulinet, J. Campagne, J. Deibener-kaminsky, S. Mohamed, F. Fouyssac, R. Jaussaud (France)

113

THE IMPORTANCE OF PHYSICIANS’ EDUCATION IN THE BOARD NUMBER OF BUILDING LONG-LASTING RELATIONS WITH PID PATIENTS B. Prandzioch-Górecka, A. Górecki (Poland)

114

JC-VIRUS GRANULAR CEREBELLAR NEURONOPATHY IN A PATIENT WITH ALPS AND CVID J. Helweg-Larsen, M. Rasmussen, M. Worsøe Rosenstierne, H. Marquart, J. T Bay, R. Lykke Marvig, L.P. Ryder, F. Thorup Sellebjerg, A. Fomsgaard, D. Kondziella (Denmark)

115

IMMUNOPHENOTYPING DIFFERENCES IN HYPER-IGE SYNDROMES ASSOCIATED WITH DOCK8 AND STAT3 MUTATIONS? D. Baser, I. Ogulur, A. Kiykim, N. Kasap, E. Nain, B. Safa, E. Karakoc-Aydiner, A. Ozen (Turkey)

116

HEREDITARY ANGIOEDEMA TYPE 3 (CLINICAL CASE FROM LATVIA) N. Kurjane, V. Kenina, T. Romanova, R. Engels, S. Upmale (Latvia)

117

HEPATIC DISEASE IN ATAXIA-TELANGIECTASIA, DIAGNOSED IN INSTITUTO NACIONAL DE PEDIATRÍA IN MEXICO CITY R. Laurel, S. Scheffler-Mendoza, M.A. Yamazaki-Nakashimada (Mexico)

118

A BOY WITH X-LINKED INHIBITOR OF APOPTOSIS PROTEIN (XIAP) DEFICIENCY AS THE INITIAL PRESENTATION OF PURE RED CELL APLASIA N.Y. Lee, K.H. Kim, J.W. Rhim, S.Y. Lee, S.B. Han, N.G. Chung, B. Cho, J.H. Kang, M.S. Kim, D.C. Jeong (Republic of Korea)

119

DISTINCT NON-MHC GENE ASSOCIATIONS IN IGAD PATIENTS CARRYING DIFFERENT MHC SUSCEPTIBILITY HAPLOTYPES C.K. Lim, J. Varadé, Y.T. Goh, T.W. Behrens, L. Hammarström (Singapore)

120

MALIGNANCY AND PRIMARY IMMUNODEFICIENCY DISEASES S. Lotfy, N. Galal, S. Meshaal, R. Elhawary, D. Abdel Aziz, R. Alkady, A. Eldash, A. El-Marsafy, J. Boutros (Egypt)

121

PSYCHOLOGICAL SYMPTOMS IN PRIMARY IMMUNODEFICIENCY PATIENTS IN A DUTCH TERTIARY CARE HOSPITAL O. Manusama, H. Drexhage, M. Van Hagen, V. Dalm (The Netherlands)

122

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY: TWO CASE REPORTS AND A NEW MUTATION F. Andrade, L. Marques, M. Guedes, E. Neves, J. Vasconcelhos (Portugal)

123

A NOVEL HOMOZYGOUS MUTATION IN THREE TUNISIAN PATIENTS WITH MAJOR HISTOCOMPATIBILITY COMPLEX CLASS II DEFICIENCY

124

N. Mekki, I. Ben-Mustapha, H. Besbes, M. Ben-Ali, S. Hammami, A. Ben-Chehida, M. Bejaoui, M.R. Barbouche (Tunisia)

NOVEL MUTATION IN BIRC4/XIAP GENE IN PATIENT WITH ATYPICAL COURSE OF CROHN´S DISEASE T. Milota, Z. Parackova, P. Vrabcova, I. Zentsova, M. Svaton, A. Sediva (Czech Republic)

125

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME (AD-HIES) WITHOUT ELEVATED SERUM IGE C.S. Larsen, M. Christiansen, T. Mogenson (Denmark)

126

REPORT OF TWO SIBLINGS WITH CD27 DEFICIENCY WHO PRESENTED WITH ROSAI- DORFMAN SYNDROME AND LYMPHOPROLIFERATION T. Momen (Iran)

127

TRANSPLANTATION OF MUTATED TACI BY BMT TO A CVID PATIENT WITH ANAPHYLAXIS TO IVIG. SHOULD WE TEST FOR MUTATIONS ALL DONOR HEMATOPOIETIC STEM CELLS? D. Moraes Vasconcelos, D.L. Bertolini-, A. Duarte, R. Rosa, C. Deringer, V. Funke, J.B. Oliveira, V. Rocha (Brazil)

128

PRIMARY IMMUNODEFICIENCY DISEASES IN A SINGLE DERMATOLOGICAL OUTPATIENT UNIT FROM A TERTIARY UNIVERSITY HOSPITAL IN SÃO PAULO, BRAZIL. D. Moraes Vasconcelos, M. Domingues Ferreira, D.L. Bertolini, N. Chuffi Barros, L.E. Prestes Carneiro, A. Duarte (Brazil)

129

MINIPUBERTY AND THYMIC SEXUAL DIMORPHISM IN THE INFANT HUMAN THYMUS C.A. Moreira-Filho, S.Y. Bando, F.B. Bertonha, L.R. Ferreira, L.H.B. Oliveira, M.M.S. Carneiro-Sampaio (Brazil)

130

CLINICAL CASE: PATIENT WITH TRNT1 MUTATION PRESENTED WITH AGAMMAGLOBULINEMIA AND INTRACTABLE DIARRHEA I. Moreira, A. Seminario, L. Regairaz, A. García, M. Esnaola, M. Fleming, L. Bezrodnik (Argentina)

131

THE PROJECT VAXINPERMAM: PRELIMINARY RESULTS ON A MATERNAL IMMUNIZATION SURVEY L. Chini, A. Pietropolli, M.V. Capogna, C. Rizzo, V. Avarino, V. Giovinazzo, S. Graziani, B. Martire, E. Piccione, V. Moschese (Italy)

132

PRIMARY IMMUNODEFICIENCY CASES IN INDONESIA: REPORT FROM A LIMITED RESOURCES COUNTRY D. Muktiarti, N. Kurniati, E. Citraresmi, C.D. Satria (Indonesia)

133

SYRINGEABILITY AND INJECTABILITY COMPARISON OF COMMERCIALLY AVAILABLE HUMAN SUBCUTANEOUS IGG DRUG PRODUCTS A. Muranyi, J. Römisch (Austria)

134

INFECTIONS AND LYMPHOCYTE SUBSET ALTERATIONS IN ATAXIA TELANGIECTASIA MUTATED KINASE CARRIERS I. Ogulur, T. Ertuzun, A. Ozen, E. Uyar, A. Kiykim, D. Baser, G. Yesil, H. Akturk, A. Somer, M. Muftuoglu, E. Karakoc-Aydiner, S. Baris (Turkey)

135

CD55 MEDIATED LOSS OF CO-STIMULATION CAUSES INSUFFICIENT IL10 PRODUCTION IN PATIENTS WITH CD55 A. Ozen, I. Ogulur, A. Kiykim, S. Baris, E. Karakoc-Aydiner (Turkey)

136

IS IT POSSIBLE TO DISTINGUISH TRUE LRBA PATIENTS WITH THE EXPRESSION OF THE LRBA PROTEIN BY FLOW CYTOMETER? I. Ogulur, A. Kiykim, E. Karakoc-Aydiner, B. Safa, A. Ozen (Turkey)

137

REFRACTORY VISCERAL LEISHMANIASIS OCCURRED DURING CONGENITAL NEUTROPENIA M. Ben Khaled, R. Cherni, M. Ouederni, S. Rekaya, S. Jouahri, W. Touati, N. Dhouib, F. Mellouli, M. Bejaoui (Tunisia)

138

GRANULOMATOUS RESPIRATORY MANIFESTATIONS IN COMMON VARIABLE IMMUNODEFICIENCY S. Rekaya, M. Ben Khaled, M. Ouederni, W. Touati, R. Cherni, O. Ben Zaied, S. Jouahri, R. Kouki, F. Mellouli, M. Bejaoui (Tunisia)

139

KNOWLEDGE EVALUATION OF NURSES ABOUT PRIMARY IMMUNODEFICIENCY DISEASES M. Ben Khaled, O. Ben Zaied, M. Ouederni, S. Rekaya, S. Jouahri, R. Cherni, W. Touati, R. Kouki, N. Douib, F. Mellouli, M. Bejaoui (Tunisia)

140

CASE OF LRBA DEFICIENCY AND CHRONIC INTERSTISYEL NEPHRITIS S. Özen, O. Akcal, N. Gulez, F. Genel, I. Akil, H. Gulen (Turkey)

141

A GRANULOMATOUS-LYMPHOCYTIC INTERSTITIAL LUNG DISEASE (GLILD) IN PATIENT WITH COMMON VARIABLE IMMUNODEFICIENCY (CVID). M. Pac, K. Bernat-Sitarz, H. Dmenska, M. Pronicki, J. Komarnicka, B. Piatosa, E. Heropolitanska-Pliszka, D. Skoczynska, B. Pietrucha, E. Bernatowska (Poland)

142

QUALITY OF LIFE IN PRIMARY ANTIBODY DEFICIENCIES S. Pereira da Silva*, F. Barbosa*, A. Varandas, R. Ferreira, M. Laiges, S. Lopes da Silva, M. Pereira Barbosa (Portugal)

143

ANOTHER FACE TO NFKB2 MUTATIONS: A CASE REPORT J. Peter, B. Glanzmann, M. Urban, M. Moller, M. Esser, C. Kinnear (South Africa)

144

GLOBAL STATUS OF PID PRINCIPLES OF CARE M. Pergent, J. Prevot, N. Mahlaoui, S. Kiema, L. Solis (United Kingdom)

145

EXPERIENCE OF DIAGNOSIS AND TREATMENT OF PATIENTS WITH X-LINKED CHRONIC GRANULOMATOUS DISEASE IN LATVIA T. Prokofjeva, T. Sarajeva, I. Grantiņa (Latvia)

146

RETROSPECTIVE EVALUATION OF PATIENTS WITH PID BETWEEN 2001–2016 IN KONYA I. Reisli (Turkey)

147

WHOLE GENOME SEQUENCING REVEALS CHILDHOOD AUTOIMMUNE DISEASE INFREQUENTLY RESULTS FROM MENDELIAN INHERITANCE OR DE NOVO MUTATIONS INSTEAD EXHIBITING A HIGH BURDEN OF COMMON RISK VARIANTS A. Russell, M. Craig, O. Siggs, M. Pinese, P. Gray, K. Jackson, A. Minoche, V. Gayevskiy, D. Thomas, M. Dinger, M. Cowley, M. Wong, J. Teo, R. Dale, M. Stormon, C. Goodnow (Australia)

148

EVALUATION OF POLYSACCHARIDE ANTIBODY RESPONSE IN PATIENTS WITH B CELL HEMATOLOGICAL MALIGNANCY J. Ochoa Grullón, C. Benavente, R. Martínez, A. Peña, A. Álvarez, M. Polo, K. Guevara Hoyer, A. Rodríguez de la Peña, K. Llano Hernández, E. Rodríguez de Frías, M. Serrano Blanco, G. Cordero, C. D´Angelo, C. Orte, S. Sánchez-Ramón (Spain)

149

IMPROVING OUTCOMES IN PATIENTS WITH PRIMARY IMMUNODEFICIENCY F.O. Seeborg, C. Scalchunes, R. Seay, A. Nguyen, J. Boyle, J.S. Orange (USA)

150

THE ICEBERG MAP OF GERMLINE MUTATIONS (INCL. PRIMARY IMMUNODEFICIENCIES) THAT PREDISPOSE TO CANCERS IN CHILDREN AND ADOLESCENTS O. Kindler, M. Seidel (Austria)

151

AUTOIMMUNE PHENOMENA VERSUS AUTOIMMUNE DISEASES IN PATIENTS WITH PRIMARY IMMUNODEFICIENCIES O.I. Sobieschi, M. Aguilar Gonzalez, M.I. Alcala Peña, M.L. Vargas Perez (Spain)

152

EPIDEMIOLOGICAL STUDY ON THE INCIDENCE OF ACUTE RESPIRATORY INFECTIONS CAUSED BY RESPIRATORY SYNCYTIAL VIRUS REQUIRING HOSPITALIZATION IN PEDIATRIC POPULATIONS WITH PRIMARY IMMUNODEFICIENCY (THE PID-RSV STUDY). A. Martin-Nalda, I. Gonzalez-Granado, L. Alsina, O. Neth, M. Santamaria, C. Carreras-Gil de Santivañes, T. Del Rosal, M.E. Seoane-Reula, P. Llobet-Agullo, S. De Arriba-Mendez, J.L. Santos-Perez, J.D. Moure-Gonzalez, J.T. Ramos, J. Dueñas-Morales, P. Soler-Palacín (Spain)

153

TOPOLOGICAL ANALYSIS OF DEVELOPMENTAL PATHWAYS IN THE HIGHLY COMPLEX MASS CYTOMETRY DATASETS OF LYMPHOCYTES’ DEVELOPMENT J. Stuchly, N. Brdickova, D. Kuzilkova, M. Cuenca, P. Engel, O. Hrusak, T. Kalina (Czech Republic)

154

EVALUATION OF AUTOIMMUNE CYTOPENIAS IN PATIENTS WITH PRIMARY ANTIBODY DEFICIENCY M. Tavakol, A. Aghamohammadi, G. Azizi (Iran)

155

ORAL VITAMIN D FOR THE EFFECTIVE TREATMENT OF REFRACTORY PLANTAR AND PALMER WARTS C. Tsakona (United Kingdom)

156

TCR V BETA REPERTOIRE IN DI GEORGE SYNDROME PATIENTS M. Tzanoudaki, S. Tantou, E. Gkika, A. Manousou, E. Ploumi, V. Polaki, A. Limioti, H. Fryssira, M. Liatsis, M. Kanariou (Greece)

157

A WIDE SPECTRUM OF AUTOIMMUNE MANIFESTATIONS IN PATIENTS WITH CARTILAGE-HAIR HYPOPLASIA S. Vakkilainen, R. Mäkitie, P. Klemetti, H. Valta, M. Taskinen, E.S. Husebye, O. Mäkitie (Finland)

158

PROGRESSIVE LATE-ONSET HYPOGAMMAGLOBULINEMIA IN A FAMILY WITH 18Q DELETION SYNDROME G. Vitiello, B. Palterer, A. Carraresi, S.R. Giglio, F. Liotta (Italy)

159

VACCINE COMPLICATIONS IN PRIMARY IMMUNODEFICIENCY A. Volokha, A. Bondarenko, A. Hilfanova, L. Chernyshova (Ukraine)

160

COMMON VARIABLE IMMUNODEFICIENCY (CVID) AND TWO DIFFERENT CONSECUTIVE STAGE IV LYMPHOMAS IN 14-YEAR OLD BOY A. Wakulinska, M. Stypinska, B. Wolska-Kusnierz, W. Grajkowska, J. Trubicka, B. Dembowska-Baginska (Poland)

161

UREAPLASMA UREALYTICUM ARTHRITIS AND GENITAL TRACT INFECTIONS IN PATIENT WITH COMMON VARIABLE IMMUNODEFICIENCY M. Ziętkiewicz, H. Suchanek, Z. Zdrojewski (Poland)

162

PATHOPHYSIOLOGY OF PID

Poster Board Number

STAT5B DEFICIENCY DUE TO A NOVEL MISSENSE MUTATION IN THE COILED-COIL DOMAIN M. Acres, A. Grainger, F. Gothe, D. Swan, S. Leech, S. Galcheva, V. Iotova, S. Hambleton, E. Karin (United Kingdom)

163

CD79A DEFICENCY: A RARE CAUSE OF FAMILIAL HYPOGAMMAGLOBULINEMIA A. Al Kuwaiti, H. Shendi (United Arab Emirates)

164

MOLECULAR GENETIC DEFECTS OF HEREDITARY ANGIOEDEMA IN SAUDI ARABIA A. Alqahtani, H. Alajlan, S. Alhissi, H. Alrayes, R. Arnaout, B. Al Saud, H. Aldhekri, H. Al Mousa, A. Khaliq, N. Sayes, F. Sheikh, A. Alazami (Saudi Arabia)

165

PRESENTATION, AND PROGNOSIS OF MALIGNANCIES IN ATAXIA-TELANGIECTASIA: 7 MEXICAN PATIENTS. J. Barroso Santos, S. Espinosa-Padilla, S. Scheffler, E.A. De la Cruz Córdoba, M.A. Yamazaki, M.E. Gonzalez (Mexico)

166

HOMOZYGOUS NIK MUTATION PRESENTING AS CEREBRAL MYCOBACTERIAL DISEASE WITH B CELL LYMPHOPENIA AND HYPOGAMMAGLOBULINEMIA K. Ben Farhat, M. Alosaimi, H. Shendi, J. Jones, L.S. Alawdah, S. Burchett, S. Albuhairi, H. Alsafar, J. Whangbo, K. Schwarz, M. Hönig, H. Shamseddin, F.S. Alkuraya, R.S. Geha, J. Chou (USA)

167

ANALYZING THE POTENTIAL ROLE OF CANDIDATE GENE MUTATIONS REGARDING NK- AND B-CELL DEVELOPMENT IN A PID WITH ASPLENIA J. Blaha, U. Pannicke, G. Barbi, T. Cathomen, J.J.M. Van Dongen, A. Enders, U. Wintergerst, K. Schwarz (Germany)

168

PI3KCD CHANGES IN DNA METHYLATION LEVELS AMONG CVID PATIENTS WITH UNKNOWN AETIOLOGY N. Camacho-Ordonez, N. Glaser, A. Weiβ, M. Elgizouli, K. Warnatz, B. Grimbacher (Germany)

169

NATURAL KILLER CELL ABNORMALITIES IN PATIENTS WITH 22Q11.2 DELETION SYNDROME D. Soares, M. Matta, A. Dantas, A. Pastorino, L. Kulikowski, M. Montenegro, N. Nunes, M.I. Melaragno, C. Kim, L. Torres, M. Carneiro-Sampaio (Brazil)

170

NGS INVESTIGATION IN ADULT CVID PATIENTS M. Carrabba, S. Giliani, M. Zarantonello, G. Fabio (Italy)

171

A HOMOZYGOUS SPLICE-SITE MUTATION IN CARMIL-2 LEADS TO IMPAIRED TCR SIGNALING AND ACTIN REMODELING DEFECTS C. Castro, M.E. Maccari, S. Ammann, G. Griffiths, C. Has, S. Ehl (Germany)

172

REDUCED BONE DENSITY AND RECURRENT FRACTURES IN A PATIENT WITH A GAIN-OF-FUNCTION (GOF) MUTATION IN STAT1. V. Cunill, Á. Molina-Fuentes, J.M. Ferrer, M.R. Julià, A. Martín-Santiago, J. Dueñas, J. Ramakers, J. Pons, N. Martinez-Pomar (Spain)

173

POLYGENIC BURDEN IN COMMON VARIABLE IMMUNODEFICIENCY? A MONOZYGOTIC TWIN PAIR STUDY M. Gaspar Fonseca, A. Serra-Caetano, M. Pereira, S. P. Silva, L. Hammarstrom, M. Gama Carvalho, S. L. Silva, A. E. Sousa (Portugal)

174

QUANTITATIVE AND QUALITATIVE DEFECTS IN PRECURSOR B-CELL DEVELOPMENT IN BONE MARROW OF GOOD SYNDROME PATIENTS L. Del Pino Molina, M. Wentink, M. Van Deuren, M. Van Hagen, C.I.E. Smith, M. Van der Burg (Spain)

175

LONG-TERM CLINICAL AND IMMUNOLOGICAL MONITORING OF AN APDS PATIENT TREATED WITH SIROLIMUS L. Del Pino Molina, F.J. Aracil-Santos, M. Bravo, E. López-Granados (Spain)

176

PHENOTYPIC AND GENETIC VARIABILITY OF SAP-DEFICIENCY: CLASSICAL XLP, XLP WITH SOMATIC REVERSION AND FEMALE XLP-CARRIER WITH SKEWED X-INACTIVATION A. Eichinger, S. Javeri, T. Magg, R. Conca, I. Somekh, I. Eckerlein, M. Hofmann, E. Eisl, S. Schlieben, G. Strotmann, F. Hoffmann, K. Reiter, M.H. Albert, C. Klein, F. Hauck (Germany)

177

ALTERED LIPID METABOLISM LINKED TO INFLAMMATORY AND AUTOIMMUNE COMPLICATIONS IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY M. Eide Macpherson, B. Halvorsen, A. Yndestad, T. Ueland, R.K. Berge, A. Rashidi, P. Aukrust, B. Fevang, S.F. Jørgensen (Norway)

178

DOCK2 DEFICIENCY IN A PATIENT PRESENTING WITH CD4 AND B CELL LYMPHOPENIA R. Elhawary, N. Galal, S. Meshaal, D. Abd Elaziz, S. Lotfy, J. Boutros, J. Chou, R. Geha, A. Elmarsafy (Egypt)

179

PATIENTS WITH CHRONIC GRANULOMATOUS DISEASE WITH AND WITHOUT GASTROINTESTINAL INFLAMMATION HAVE A DISTINCT INTESTINAL MICROBIOME SIGNATURE E.L. Falcone, Y. Han, C.S. Zerbe, S. Kreuzburg, T. Heller, S.S. DeRavin, H.L. Malech, C. Deming, J.A. Segre, S.M. Holland (USA)

180

CLINICAL PRESENTATION AND MANAGEMENT OF A PATIENT WITH A VARIANT IN IMMUNORESPONSIVE GENE 1 (IRG1) J. Farela Neves, A. Cordeiro, K. McCann, A. Hsu, S. Holland (Portugal)

181

RISK OF PULMONARY HYPERTENSION IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY. J. Farmer, S. Barmettler, M.S. Ong, J. Walter (USA)

182

SERIOUS COMPLICATION IN COMMON IMMUNODEFICIENCY VARIABLE: CASE REPORT. C. Ferreira, M. Vieira, A. Guilherme, I. Lopes (Portugal)

183

IL-21 AND ANTI-CD40 RESTORE BCL-2 FAMILY PROTEINS IMBALANCE IN LOW SURVIVAL CD27+ B CELLS FROM COMMON VARIABLE IMMUNODEFICIENCY PATIENTS A. López-Gómez, A. Clemente, V. Cunill, J. Pons, J. Ferrer (Spain)

184

LATE-ONSET GRANULOMATOUS HEPATIC DISEASE AND LYMPHOCYTOSIS IN PERFORINOPATHY V. Fonseca, A.S. Caetano, M.B. García-Morato, J. Valentin Quiroga, L.Y. Bravo Gallego, A. Albuquerque, D. López-Presa, C. Mota, M. Teixeira Silva, A.C. Ferreira, R. Victorino, A. Pérez-Martinez, E. López-Granados, A.E. Sousa (Portugal)

185

MOLECULAR CHARACTERIZATION OF SIX COLOMBIAN PATIENTS WITH MHC CLASS II DEFICIENCY DUE TO NOVEL MUTATIONS IN CIITA WITH POTENTIAL FOUNDER EFFECT A. Franco-Gallego, R.G. Peláez Sánchez, C. Arango Ferreira, J.C. Villada, C. Garcés, N. Builes, A. Escobar, J. Rodríguez, J. Bustamante, C. Picard, J.L. Franco (Colombia)

186

GUT MICROBIOME ANALYSIS IN COMMON VARIABLE IMMUNODEFICIENCY (CVID) PATIENTS K. Fiedorova, M. Radvansky, P. Kralickova, M. Cernochova, E. Nemcova, H. Grombirikova, J. Bosak, M. Lexa, J. Litzman, D. Smajs, T. Freiberger (Czech Republic)

187

AUTOIMMUNITY AND IMMUNODEFICIENCY IN TWO PATIENTS HARBORING A NOVEL HOMOZYGOTE MUTATION IN MALT1 GENE S. Frizinsky, A.J. Simon, A. Lev, E. Rehavi, O. Barel, Y.N. Lee, T. Stauber, R. Somech (Israel)

188

TRANSCRIPTION FACTOR EPAS1 LINKS DOCK8 DEFICIENCY TO ATOPIC SKIN INFLAMMATION VIA IL-31 INDUCTION IN HELPER T CELLS Y. Fukui (Japan)

189

MHV68 INFECTION IN ITK-/- DEFICIENT MICE – A MODEL FOR EBV LYMPHOPROLIFERATION ? S. Ghosh, I. Drexler, S. Bhatia, S. Tao, C. Knobbe-Thomsen, A. Borkhardt (Germany)

190

A MODEL SYSTEM TO STUDY STAT1 PHOSPHORYLATION IN CMC (CHRONIC MUCOCUTANEOUS CANDIDIASIS) AND CVID (COMMON VARIABLE IMMUNE DEFICIENCY) S. Hanson, S. Burns (United Kingdom)

191

CEREBRAL CRYPTOCOCCOSIS IN A HIV-1-NEGATIVE PATIENT ASSOCIATED WITH SARCOIDOSIS AND DEFICIENCY OF MANNOSE-BINDING-LECTIN T. Harrer, S. Günzelmann, T. Bollinger, P. Oschmann, T. Jess (Germany)

192

IDENTIFICATION OF AUTOANTIBODIES USING HUMAN PROTEOME MICROARRAYS IN PATIENTS WITH IPEX SYNDROME A. Hoshino, M. Takagi, M. Nishi, I. Tsuge, K. Imai, H. Kanegane, T. Morio (Japan)

193

QUANTITATIVE ASSESSMENT OF NFKB TRANSCRIPTION FACTOR ACTIVITY IN HEALTH AND DISEASE T. Hunter, D. Fear, P. Lavendar, J. Spencer, M. Peakman, M. A A Ibrahim (United Kingdom)

194

COMMON GAMMA CHAIN DEFICIENCY PREFERENTIALLY AFFECTING IL-4R- AND IL-21R-MEDIATED SIGNALING D. Illig, M. Navratil, J. Kelečić, R. Conca, M. Rohlfs, S. Hollizeck, J. Bohne, C. Klein, D. Kotlarz (Germany)

195

DYSGAMMAGLOBULINEMIA, PROGRESSIVE B CELL DEFICIENCY AND LOSS OF T CELL NAIVETY IN A FAMILY WITH A NOVEL HETEROZYGOUS (GERMLINE) IKFZ1 MUTATION S. Javeri, A. Rack-Hoch, T. Magg, M. Rohlfs, A. Boekstegers, I. Eckerlein, M. Hofmann, E. Eisl, S. Schlieben, G. Strotmann, M. Albert, C. Klein, F. Hauck (Germany)

196

GRANULOMATOUS LYMPHOCYTIC INTERSTITIAL LUNG DISEASE (GLILD) CASES IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY (CVID) FROM A SINGLE CENTRE BETWEEN 1994 AND 2018: COMPARISON WITH CONSENSUS T. Kanwar, E. Staples, D. Kumararatne, A. Manson, P. Wright, J. Babar, S. Karia, T. Sadler, M. Fordham, D. Springett, C. Sander (United Kingdom)

197

SERUM CXCL13 LEVELS AND CIRCULATING T FOLLICULAR HELPER CELLS CHARACTERISE A DISTINCTIVE PHENOTYPE OF COMMON VARIABLE IMMUNODEFICIENCY (CVID) H. Martini, I. Karafotias, R. Steven, C.V. Lee, K. Sundaram, P. Gurugama, T. Hunter, Z. Adhya, M. Guckian, S. Jolles, M.A.A. Ibrahim (United Kingdom)

198

CORRELATION BETWEEN IGA DEFICIENCY AND SKIN PRICK TEST RESULTS WITH FOOD ALLERGENS IN CHILDREN BORN WITH AND WITHOUT CESBOARD NUMBERN DELIVERY H.A. Khazaei, N. Muolai, J. Dehghan, A. Khazaei, E. Khazaei, B. Khazaei, M. Dehbashi, N. Rezaei, A. Aghammohammai (Iran)

199

CLINICAL AND IMMUNOLOGICAL PHENOTYPE OF PATIENTS WITH PRIMARY IMMUNODEFICIENCY DUE TO MUTATIONS IN NFKB2 C. Klemann, J. Premm, Y. Linlin, Z. Eskandarian, J.L. Rojas-Restrepo, N. Frede, A. Bulashevska, M.S. Al-Ddafari, M. Heeg, M. Seidl, S. Ammann, K. Schwarz, R. Sherkat, M.H. Emami, M. Salehi, S. Sheikhbahaei, M.

200

Behnam, N.C. Ordonez, K. Warnatz, S. Unger, R. Kobbe, A. Hüfner, T.R. Leahy, J. Cox, W. Ip, M. Fliegauf, B. Grimbacher (Germany)

ATYPICAL SIFD PATIENT WITHOUT SIDEROBLASTIC ANEMIA WITH NOVEL TRNT1 MUTATIONS: STUDIES ON MOLECULAR PATHOGENESIS OF B CELL DEFICIENCY AND PERIODIC FEVER E. Kumaki, K. Tanaka, K. Imai, Y. Aoki-Nogami, F. Isikawa, T. Morio (Japan)

201

INFLAMED CVID CD4+ T-CELL LANDSCAPES PROMOTE EXTRA-FOLLICULAR AUTOANTIBODY PRODUCTION C. Le Coz, B. Bengsch, M. Trofa, W. Meng, E.T. Luning Prak, K.E. Sullivan, J.E. Wherry, N. Romberg (USA)

202

OROPHARYNGEAL MICROBIOME AND IMMUNE DYSREGULATION IN COMMON VARIABLE IMMUNODEFICIENCY DISORDER R. Berbers, P. Ellerbroek, J. Montfrans- van, R. Willems, H. Leavis (The Netherlands)

203

MOLECULAR CHARACTERISTICS OF T CELL RECEPTOR GAMMA REPERTOIRE DETERMINED BY NEXT GENERATION SEQUENCING IN PATIENTS WITH MUTATIONS IN ARTEMIS Y.N. Lee, A. Lev, A. Simon, A. Grinberg, R. Somech (Israel)

204

PHENOTYPIC AND FUNCTIONAL B CELL DEFECTS IN IGA DEFICIENCY A.L. Lemarquis, F.P. Theodors, R.N. Kristjansdottir, I. Jonsdottir, H.K. Einarsdottir, B.R. Ludviksson (Iceland)

205

SYSTEMATIC CHARACTERIZATION OF THE T AND B CELL REPERTOIRE USING NEXT GENERATION SEQUENCING IN AT PATEINTS. A. Lev, A.J. Simon, Y.N. Lee, R. Somech (Israel)

206

JUVENILE-ONSET IMMUNODEFICIENCY SECONDARY TO ANTI-INTERFERON GAMMA AUTOANTIBODIES W.K. Liew, M.S.Y. Ng, D.T. Chen, M.J.A. Koh, K.C. Thoon, N.W.H. Tan, C.Y. Chong (Singapore)

207

A NOVEL HEMIZYGOUS MUTATION OF CYBB ASSOCIATED WITH MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE Y. Ling (China)

208

AGAMMAGLOBULINEMIA AND SEVERE INFECTIONS IN A PATIENT WITH 16P11.2 DELETION SYNDROME T. Martelius, M. Kaustio, L. Trotta, T. Hautala, M. Seppänen, J. Saarela (Finland)

209

REGULATION OF IMMUNORESPONSIVE GENE 1 (IRG1) AND FUNCTION OF ITACONATE IN THE HUMAN INNATE IMMUNE RESPONSE K. Mccann, J.P.M. Farela Neves, K. Marsh, H. Kim, S. Holland (USA)

210

CLINICAL PHENOTYPE AND DIAGNOSIS OF 42 EGYPTIAN PATIENTS PRESENTING WITH HYPOGAMMAGLOBULINEMIA S. Meshaal, R. El Hawary, D. AbdelAziz, R. Alkady, A. Eldash, S. Lotfy, N. Galal, J. Boutros, A. Elmarsafy (Egypt)

211

BEYOND RECALL: A UNIQUE FUNCTION OF MEMORY B CELLS IN MUCOSAL PROTECTION C. Milito, R. Carsetti, F. Pulvirenti, G. Donato, I. Quinti (Italy)

212

THE IDENTIFICATION OF MODIFIERS IN CYTOTOXIC-T-LYMPHOCYTE-ANTIGEN-4 (CTLA-4) INSUFFICIENCY N. Mitsuiki, C. Schwab, A. Bulashevska, D. Egg, A. Gabrysch, I.C. Rump, M.G. Kanariou, V. Lougaris, J. Litzman, T.F. Tomas Freiberger, V. Patinio, D. Wolff, H.M. Lorenz, C. Speckmann, S. Ehl, K. Warnatz, B. Grimbacher (Germany)

213

INHERITED RELB DEFICIENCY IS A NEW GENETIC ETIOLOGY OF COMBINED IMMUNODEFICIENCY WITH A HYPER-IGM PHENOTYPE K. Moriya, F. Celmeli, V. Beziat, R. Lévy, M. Migaud, K. Boztug, L. Abel, J.L. Casanova, A. Puel (France)

214

MINING THE MULTIGENIC LANDSCAPE UNDERLYING COMMON VARIABLE IMMUNODEFICIENCY DISORDERS P. Mota Prego Rosmaninho, A. Raposo, H. Abolhassani, L. Hammarström, A.E. Sousa, S.L. Silva (Portugal)

215

A RECURRENT RAG2 MUTATION (C.T653A P.I218N) IN NORTHERN ITALY: A POSSIBLE FOUNDER EFFECT L.D. Notarangelo, G. Carracchia, E. Soncini, V. Bennato, A. Lanfranchi, S. Giliani, L.D. Notarangelo, F. Porta (Italy)

216

INCREASED CD95 EXPRESSION IN PATIENTS WITH 22Q11.2 DELETION (DIGEORGE) SYNDROME D. Aresvik, K. Lima, T. Øverland, R.D. Pettersen, T.G. Abrahamsen (Norway)

217

A CVID PATIENT PRESENTING WITH ONLY DYSPEPTIC SYMPTOMS N. Paksoy, C. Tuzer, S. Beyaz, A. Gelıncık, S. Buyukozturk, B. Colakoglu (Turkey)

218

OUTCOMES OF INTERSTITIAL LUNG DISEASE IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY DISORDERS S. Patel, C. Anzilotti, M. Lucas, N. Moore, H. Chapel (United Kingdom)

219

NOVEL COMPOUND HETEROZYGOUS MUTATION IN PGM3 IN TWO SIBLINGS WITH SEVERE IGE-RELATED DERMATITIS, T-CELL LYMPHOPENIA, WITHOUT SYNDROMIC FEATURES M. Buendia Arellano, A. Deyà-Martínez, S. García-Gómez, C. Cubillos Zapata, A. Vicente, C. Prat, E. López-Collazo, L. Alsina, R. Pérez De Diego (Spain)

220

DEFECTIVE REPLICATION STRESS RESPONSE: A CLUE TO THE T-CELL IMMUNODEFICIENCY IN SCHIMKE IMMUNO-OSSEOUS DYSPLASIA (SIOD)? A. Safa, M. Perrig, A.V. Marin, A. Jiménez-Reinoso, A.C. Briones, R. Chaparro, E. Román-Ortiz, P.P. Cárdenas, J.R. Regueiro, M.J. Recio (Spain)

221

NOVEL STIM1 DEFICIENCY ASSOCIATED WITH MILD IMMUNOLOGICAL PHENOTYPE L. Rice, C. Stockdale, I. Berry, S. Preston, S. O'Riordan, R. Anwar, C. Carter, S. Savic (United Kingdom)

222

HYPOGAMMAGLOBULINEMIA, IMPAIRED VACCINE RESPONSE, AND RECURRENT INFECTIONS IN MUCOLIPIDOSIS II F. Saettini, J. Davison, A. Thrasher, B. Claire (Italy)

223

LEUKOCYTE ADHESION DEFICIENCY-I: A COMPREHENSIVE REVIEW OF ALL PUBLISHED CASES S. Kasbekar, E. Almarza Novoa, A.J. Thrasher, D.B. Kohn, J. Sevilla, T. Nguyen, J.A. Bueren, J.D. Schwartz (USA)

224

THE PHENOTYPE OF WIP DEFICIENCY W. Schwinger, C. Urban, R. Ulreich, D. Sperl, A. Karastaneva, V. Strenger, H. Lackner, K. Boztug, M. Benesch, M. Seidel (Austria)

225

RITUXIMAB AS A TRIGGERING FACTOR FOR THE DEVELOPMENT OF COMMON VARIABLE IMMUNODEFICIENCY (CVID) E. Sevdali, A.M. Peristeri, E. Farmaki, G. Tsinti, M. Palassopoulou, A. Kioumi, N. Stavrogianni, M. Speletas (Greece)

226

OUTCOMES OF PATIENTS WITH X-LINKED AGAMMAGLOBULINAEMIA IN ENGLAND AND WALES B. Shillitoe, A. Gennery, M. Pearce, W. Ip, S. Hackett, A. Huissoon, S. Jolles, A. Bansal, S. Savic, S. O'Riordan, S. Hughes, T. Garcez, M. Buckland, A. Herwadkar, H. Alachkar, W. Egnder, T. Williams, S. Faust (United Kingdom)

227

A CASE OF TELOMEROPATHY WITH VARIABLE PENETRANCE P. Shires, C. Waruiru, H. Clements, K. Ugonna, T. Flood, F. Shackley, N. Shannon, I. Dokal (United Kingdom)

228

IMMUNODEFICIENCY AND COLITIS AS A CONSEQUENCE OF PI3KΔ DEFICIENCY G. Sogkas, M. Fedchenko, R.E. Schmidt, F. Atschekzei (Germany)

229

A LARGE COHORT OF RAG 1/2 DEFICIENT SCID PATIENTS – CLINICAL, IMMUNOLOGICAL AND PROGNOSTIC ANALYSIS T. Stauber, R. Somech, A. Lev, A.J. Simon, A. Grinberg, N. Greenberg (Israel)

230

THREE NOVEL NFKB1 MUTATIONS IN COMMON VARIABLE IMMUNODEFICIENCY S. Steiner, A.B. Stittrich, M. Danyel, K. Wittke, F. Sotzny, C. Scheibenbogen, L.G. Hanitsch (Germany)

231

NOVEL HUMAN NFKB2 PROTEIN MUTATION IN TWO UNRELATED PATIENTS IDENTICAL TO KNOWN LYM1 MUTATION IN MICE K. Sundaram, J. Guly, S. Tadros, F. Smith, T. Hunter, H. Martini, I. Karafotias, G. Hayman, M. Ibrahim (United Kingdom)

232

NEUROBLASTOMA AMPLIFIED SEQUENCE (NBAS) MUTATIONS IN A FAMILY WITH IMMUNODYSREGULATION; A LONG-TERM FOLLOW-UP N. Suratannon, S. M.A. Swagemakers, V. A.S.H. Dalm, W. Dik, M. Van der Burg, B. Barendregt, I. Van den Borne, P. Chatchatee, P. J. van de Spek, P.M. Van Hagen (The Netherlands)

233

NEW INSIGHTS ON X-LINKED AGAMMAGLOBULINEMIA CLINICAL MANIFESTATION SEVERITY: THE MODULATION OF THE TOLL-LIKE RECEPTOR SIGNALING BY DIFFERENT BTK MUTATIONS M. Teocchi, T. Andrade Eugênio, L. Furlaneto Marega, M.M. Vilela (Brazil)

234

VARIABLE CLINICAL AND MOLECULAR PHENOTYPES OF IFNGR1 MUTATIONS IN MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE IN SOUTH AFRICA A. Van Coller, B. Glanzmann, M. Möller, C. Kinnear, C. Uren, M. Urban, M. Schoeman, M. Esser, R. Glashoff (South Africa)

235

LYMPHOCYTES SUBSETS AND T FOLICULAR LYMPHOCYTES IN PATIENTS WITH ACTIVATED PI3KΔ SYNDROME (APDS) H. Velasco, M.K.C. Brunialti, G. Segundo, F.L. Campinhos, E. Goudouris, O.A. Takano, J.T.L. Mazzucchelli, M.I. De Moraes Pinto, B.T. Costa-Carvalho (Brazil)

236

NOVEL COMPOUND HETEROZYGOUS IL7R MUTATIONS IN A 15 MONTHS OLD GIRL PRESENTING WITH NORMAL LYMPHOCYTE COUNT AND MARKED HYPERGAMMAGLOBULINEMIA P. Zangari, G. Di Matteo, C. Cifaldi, S. Di Cesare, D. Amodio, M. Chiriaco, F. Conti, N. Cotugno, M. De Luca, P. Palma, C. Cancrini, A. Finocchi (Italy)

237

THERAPY

Poster Board Number

CASE OF DELAYED PHLEBITIS-LIKE SKIN REACTION FOLLOWING INFUSION WITH SELECTED PRODUCTS OF INTRAVENOUS IMMUNOGLOBULIN, FOR IMMUNE DEFICIENCY ASSOCIATED WITH X-

238

LINKED AGAMMAGLOBULINAEMIA N. Al-Muhandis, R. Avison, B. Fish, J. Moor, S. Sholtysek, P. Gordins (United Kingdom)

SUCCESSFUL CYTOKINE THERAPY TREATMENT FOR CHRONIC SALMONELLA OSTEOMYELITIS AND CASTLEMAN DISEASES IN PATIENT WITH INTERLEUKIN-12P40 DEFICIENCY D. Alzahrani, M. ALOsaimi, M. Satti, W. Jastaniah (Saudi Arabia)

239

INFLIXIMAB THERAPY FOR STEROID REFRACTORY INFLAMATORY COLITIS IN AN INFANT WITH X-LINKED ANHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY H. Artac, A. Emsen, H. Ucaryilmaz, H.H. Emiroglu, V. Uygun, A. Stray-Pedersen, J. Orange (Turkey)

240

ETHICAL DILEMMAS IN THE CARE OF PEDIATRIC PATIENTS AND THEIR FAMILIES DIAGNOSED WITH FAMILIAL OR PRIMARY HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS (HLH) I. Astigarraga Aguirre, S. Garcia-Obregón, J. De Pedro, J.L. Dapena, J.L. Fuster, A. Perez-Martinez, A. Sastre-Urgelles, L.M. Allende, B. Lopez-Ibor, S. Riesco, J. Gil-Herrera (Spain)

241

RETROSPECTIVE CHART ANALYSIS OF HUMAN HYALURONIDASE FACILITATED SUBCUTANEOUS IMMUNOGLOBULIN (FSCIG) USAGE IN PAEDIATRIC PATIENTS WITH PRIMARY OR SECONDARY IMMUNODEFICIENCIES (RAHPP) U. Baumann, N. Zessack, D. Pittrow, C. Hermann (Germany)

242

PHARMACOECONOMIC ANALYSIS OF INTRAVENOUS IMMUNOGLOBULINS (IVIGS) IN PRIMARY IMMUNODEFICIENCY DISORDERS (PIDS) IN RUSSIAN FEDERATION E. Beltyukov, A. Kulikov, D. Ugrekhelidze, I. Skorokhodov, V. Naumova (Russia)

243

EFFICACY OF JAK 1/2 INHIBITION IN TREATMENT-RESISTANT CHRONIC MUCOCUTANEOUS CANDIDIASIS M. Bloomfield, V. Kanderová, Z. Paračková, R. Zachová, M. Svatoň, E. Froňková, A. Šedivá (Czech Republic)

244

ERYTHROCYTE EXCHANGE TRANSFUSION AND HEMATOPOIETIC EARLY STEM CELL TRANSPLANTATION (HSCT) TO TREAT PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (PNP-SCID) IN 3 CHILDREN A. Boekstegers, H. Von Bernuth, A. Eichinger, S. Javeri, C. Dedieu, J.H. Schulte, U. Kölsch, S. Malvagia, G. La Marca, C. Klein, M.H. Albert, F. Hauck (Germany)

245

FACILITATED IMMUNOGLOBULIN ADMINISTRATION REGISTRY AND OUTCOMES STUDY (FIGARO): FIRST RESULTS M. Borte, L. Hanitsch, N. Mahlaoui, I. Quinti, D. Huscher, M. Speletas, M. Fasshauer, P. Panagiotidis, D. Pittrow (Germany)

246

REGISTRY TO COLLECT LONG TERM SAFETY DATA FROM PREGNANT WOMEN TREATED WITH RECOMBINANT HUMAN HYALURONIDASE (RHUPH20)-FACILITATED SUBCUTANEOUS IMMUNOGLOBULIN (FSCIG) M. Borte, S. Raffac, M. Hrubisko, K. Jahnz-Rozyk, M. Cvackova, H. Leibl, L. Yel (Germany)

247

IS IT SAFE TO SWITCH FROM IVIG TO SCIG IN PATIENTS WITH CVID AND AITP? N. Camacho-Ordonez, P. Scheuerlein, L. Pietsch, V. Reiser, S. Patel, S.O. Burns, K. Warnatz, B. Grimbacher (Germany)

248

POTENTIAL THERAPEUTIC TARGET FOR MALNUTRITION C. Carvalho Dias, J. Soares de Oliveira Beltran, E.W. Cavalcante Oliveira Santos, A. Nogueira-Pedro, A. Miranda, E. Julian Paredes-Gamero, R. Ambrosio Fock (Brazil)

249

TIME TO DIAGNOSIS, MANAGEMENT AND OUTCOME OF CHILDREN DIAGNOSED WITH SEVERE COMBINED IMMUNODEFICIENCY IN MELBOURNE, AUSTRALIA FROM 2008-2017 H. Johnson, B. Van Dort, S. Richards, J. Smart, S. Choo, T. Cole (Australia)

250

HSCT FAILURE IN A CHILD WITH CHRONIC GRANULOMATOUS DISEASE L. Cunha, Y. Kashiwabara, F. Cruz, J. Fernandes, F. Santos, R. Souza, J. Pinto (Brazil)

251

PRELIMINARY EVALUATION OF EFFICACY AND SAFETY OF INTRAVENOUS IMMUNOGLOBULIN IN RITUXIMAB ASSOCIATED SECONDARY ANTIBODY DEFICIENCY IN AUTOIMMUNE DISEASES M. Di Natale, E. Sarmiento, M.A. Mejia, J. Gil, J. Navarro, S. Padure, E. Fernandez-Cruz, F.J. Lopez Longo, J. Carbone (Spain)

252

ALLOGENEIC HEMATOPOIETIC CELL TRANSPLANTATION IN TWO ADULTS WITH IL2RG DEFICIENCY D. Dimitrova, A. Lisco, L.D. Notarangelo, K.N. Olivier, H.L. Malech, A.P. Hsu, H. Kuehn, J. Niemela, J. Rose, S.M. Holland, S.D. Rosenzweig, I. Sereti, M. Anderson, E. Carroll, S.N. Hicks, C.G. Kanakry, J.A. Kanakry (USA)

253

LEUKOCYTE ADHESION DEFICIENCY: CLINICAL FEATURES, TREATMENT AND FOLLOW-UP S. Köstel Bal, S. Haskologlu, C. Islamoglu, C. Aytekin, A. Yıldıran, M. Yüksek, Z. Şıklar, F. Dogu, A. Ikinciogullari (Turkey)

254

REGULATORY T-LYMPHOCYTE INVOLVEMENT DURING EXTRACORPOREAL PHOTOPHORESIS TREATMENT FOR ACUTE GRAFT-VERSUS-HOST-DISEASE A. Ehrlich, A. Flinn, X. Nong-Wang, A. Gennery (United Kingdom)

255

INTERIM ANALYSIS OF A POSTAUTHORIZATION SAFETY STUDY ON THE LONG TERM SAFETY OF HYALURONIDASE-FACILITATED SUBCUTANEOUS IMMUNOGLOBULIN 10% IN PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISEASES IN EUROPE

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P.M. Ellerbroek, P. Van Paassen, L. Hanitsch, A. Plebani, R.E. Schmidt, P.M. Van Hagen, P. Wang, K. Fielhauer, H. Leibl, L. Yel (Netherlands Antilles)

ELEMENTAL DIET ALTERED THE MICROBIOTA AND IMPROVED INFLAMMATORY BOWEL DISEASE IN A PATIENT WITH CHRONIC GRANULOMATOUS DISEASE E.L. Falcone, Y. Han, S. Kreuzburg, A. Rump, L. Foruraghi, T. Heller, J.A. Church, C. Deming, J.A. Segre, S.M. Holland, C.S. Zerbe (USA)

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STRUCTURED PATIENT EDUCATION PROGRAMME FOR PATIENTS WITH PRIMARY IMMUNODEFICIENCY (PIDS-PROGRAMME) – EXPERIENCES OVER 10 YEARS IN GERMANY M. Fasshauer, H. Von Bernuth, N. Gebert, S. Goldacker, R. Krueger, P. Manzey, G. Notheis, H. Ritterbusch, U. Schauer, S. Schlieben, G. Schuermann, I. Schulze, V. Umlauf, U. Baumann (Germany)

258

ADVERSE REACTIONS TO INTRAVENOUS IMMUNOGLUBULIN FOR THE TREATMENT OF PATIENTS WITH PRIMARY IMMUNODEFICIENCY C. Ferreira, J. Lopes, A. Guilherme, I. Lopes (Portugal)

259

THYMOPOIETIC RECOVERY IN A PAEDIATRIC COHORT WITH ACUTE GVHD - THE EFFECT OF EXTRACORPOREAL PHOTOPHERESIS A. Flinn, X.N. Wang, A.R. Gennery (United Kingdom)

260

CD27 DEFICIENCY – WHAT IS THE BEST TIME FOR HSCT ? S. Ghosh, F. Schuster, F. Babor, O. Kyrillopoulou, K. Lehmberg, J. Neubert, P. Oommen, M. Paulussen, A. Borkhardt, R. Meisel (Germany)

261

USE OF INTRAVENOUS IMMUNOGLOBULINS (5% AND 10%) FOR THE TREATMENT OF PATIENTS WITH PRIMARY OR SECONDARY ANTIBODY DEFICIENCIES –AN INTERIM ANALYSIS OF A NON-INTERVENTIONAL STUDY A. Habier, M. Jansen, C. Lietz, U. Muenster (Germany)

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A SCID COHORT TREATED WITH HSCT: CLINICAL FEATURES AND OUTCOME F. Dogu, S. Haskologlu, O. Bayram, S. Bal, C. Islamoglu, T. Kendirli, A. Ikinciogulları (Turkey)

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CASE SERIES OF PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISORDERS AND IMPROVEMENT IN WARTS WITH SUBCUTANEOUS IMMUNOGLOBULIN V. Hernandez-Trujillo, W. Blouin, J. Calderon (USA)

264

IMMUNOLOGY FOLOW-UP AFTER RITUXIMAB TREATMENT IN PEDIATRIC NON HODGKIN LYMPHOMA E. Hlavackova, Z. Krenova, J. Nechvatalova, J. Sterba, J. Litzman (Czech Republic)

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TOLERABILITY OF HIGH INFUSION RATES (60 ML/H/SITE) AND VOLUMES (60 ML/SITE) IN PATIENTS TREATED WITH SUBCUTANEOUS IMMUNE GLOBULIN 20% (IG20GLY) ACCORDING TO PRESTUDY ADMINISTRATION ROUTE I. Hussain, K. Paris, S. Gupta, M. Stein, L. Kobrynski, P. Wang, B. McCoy, L. Yel (USA)

266

SIMULTANEOUS TREATMENT WITH TNF INHIBITOR AND IVIG IN A PATIENT WITH PRIMARY IMMUNODEFICIENCY AND AUTOIMMUNITY: A TREATMENT CONUNDRUM N. Cekada, M. Sestan, M. Frkovic, J. Kelecic, M. Jelusic (Croatia)

267

CUTANEOUS GRANULOMAS AND RESPONSE TO IMMUNOGLOBULIN REPLACEMENT TREATMENT IN COMMON VARIABLE IMMUNODEFICIENCY (CVID) F. Kalala, E.C. Vervessou, I. Papamargariti, A. Koutsi, M. Speletas (Greece)

268

IS PIOGLITAZONE THERAPY BENEFICIAL IN CHRONIC GRANULOMATOUS DISEASE WITH ANAL ABSCESS? N. Kasap, A. Kiykim, S. Baris, A. Ozen, E. Karakoc-Aydıner (Turkey)

269

COADMINISTRATION OF THALIDOMIDE AMELIORATES INFLAMMATORY BOWEL DISEASE ASSOCIATED WITH CHRONIC GRANULOMATOUS DISEASE T. Kawai, K. Arai, T. Ishikawa, E. Tamura, T. Uchiyama, O. Masafumi (Japan)

270

THIRD-PARTY T CELL IMMUNOTHERAPY FOR VIRAL INFECTIONS IN PRIMARY IMMUNODEFICIENCY DISORDERS M. Keller, P. Hanley, H. Lang, G. Sani, B. O'Brien, J. Tanna, R. Ulrey, N. Zhang, A. Abraham, B. Davila, K. Williams, R. Adams, J. Leiding, J. Heimall, C. Bollard (USA)

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DIVERSITY OF CANCERS IN PRIMARY IMMUNE DEFICIENCIES; HARD TO DEFINE, HARD TO TREAT A. Kiykim, N. Eker, O. Surekli, E. Nain, N. Kasap, H. Akturk, A. Canbolat, A. Somer, G. Tokuc, E. Karakoc-Aydiner, A. Ozen, S. Baris (Turkey)

272

LOW LEVEL DONOR T-CELL CHIMAERISM IN TWO PATIENTS WITH COMPLETE DIGEORGE SYNDROME AFTER THYMIC TRANSPLANTATION A. Klocperk, G. Dueckers, E. Jacobsen, M. Hoenig, S. Adams, A. Worth, T. Niehus, A. Šedivá, E.G. Davies (Czech Republic)

273

RUXOLITINIB TREATMENT ALTERS THE EXPRESSION OF STAT1-DEPENDENT GENES, RECONSTITUTES IMMUNGLOBULIN PRODUCTION AND FACILITATES WEIGHT GAIN IN A BOY WITH A STAT1 GAIN-OF-FUNCTION MUTATION R. Kobbe, M. Kolster, U. Schulze-Sturm, J. Staab, E. Tolosa, B. Grimbacher, T. Meyer (Germany)

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EFFICACY, SAFETY AND TOLERABILITY OF A 10% INTRAVENOUS IMMUNOGLOBULIN –PRIVIGEN IN REAL-LIFE PRACTICE. E. Latysheva, T. Latysheva, I. Manto, L. Hludova (Russia)

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RETROSPECTIVE OBSERVATIONAL STUDY TO ASSESS THE EFFICACY AND SAFETY OF KEDRION IVIG 5% IN PAEDIATRIC PATIENTS AFFECTED BY PRIMARY IMMUNODEFICIENCY (PID) F. Lippi, C. Canessa, S. Ricci, C. Guarnieri, R. Macchia, I. Marjanovic, C. Azzari (Italy)

276

EFFICACY AND SAFETY OF INTERFERON GAMMA IN CHRONIC GRANULOMATOUS DISEASE: A SYSTEMATIC REVIEW AND META-ANALYSIS S. Lugo Reyes, A. Gonzalez-Garay, N.Y. Gonzalez-Bobadilla, D. Rivera-Lizárraga, A. Madrigal-Paz, E.A. Medina Torres, A. Alvarez-Carmona, S.E. Espinosa Padilla, C. Solis Galicia, C. Murata (Mexico)

277

SUBCUTANEOUS IMMUNOGLOBULIN INFUSIONS IN VERY YOUNG CHILDREN WITH PRIMARY IMMUNODEFICIENCY; USE AND EFFICACY K.M. Lundeby, T. Overland, K. Halvorsen, M. Hoff, T.G. Abrahamsen, H.C. Erichsen (Norway)

278

IMPROVING PATIENTS SUBCUTANEOUS IMMUNOGLOBULIN (SCIG) TREATMENTS THROUGH THE RIGHT SELECTION OF INFUSION DEVICE TECHNOLOGY F. Ma, A. Sealfon, P.M. Baker (USA)

279

IN UTERO STEM CELL TRANSPLANTATION IN A X-LINKED SEVERE COMBINED IMMUNODEFICIENCY FETUS: INSIGHTS INTO VERY EARLY IMMUNOLOGICAL RECONSTITUTION A. Magnani, J.M. Jouannic, J. Rosain, A. Gabrion, F. Touzot, C. Roudaut, S. Kracker, N. Mahlaoui, A. Toubert, E. Clave, E. Macintyre, M. Alcantara, I. Radford-Weiss, E. Magrin, B. Ternaux, J. Nisoy, L. Caccavelli, A.M. Darras, C. Picard, S. Blanche, M. Cavazzana (France)

280

SUCCESSFUL HAPLOIDENTICAL HSCT WITH POST TRANSPLANTATION CYCLOPHOSPHAMIDE FOR A CRITICALLY CHILD CGD PATIENT PRESENTING WITH RAPIDLY PROGRESSIVE IBD N. Marcus, S. Jerry, B. Wolach, R. Gavrieli, A. Yahel (Israel)

281

HIGH-DOSE SCIGFH SELF-ADMINISTRATION TRAINING M. Martin (Spain)

282

MANUAL PUSH IMMUNOGLOBULIN G REPLACEMENT THERAPY IN ADULT AND PAEDIATRIC PATIENTS AFFECTED BY PRIMARY IMMUNODEFICIENCY DISEASE: PROTOCOL OF A PROSPECTIVE STUDY A. Matucci, S. Ricci, C. Canessa, F. Lippi, A. Vultaggio (Italy)

283

BIWEEKLY SUBCUTANEOUS IMMUNOGLOBULINS INFUSION (HIZENTRA®) IN PATIENTS WITH PRIMARY IMMUNODEFICIENCIES: TREATMENT EXPOSURE AND INFUSION PARAMETERS DURING THE ITALIAN IBIS STUDY A. Vultaggio, A. Matucci, C. Azzari, S. Ricci, B. Martire, V. Palladino, V. Gallo, A. Pecoraro, C. Pignata, G. Spadaro, S. Graziani, V. Moschese, A. Trizzino, G.M. Boggia (Italy)

284

TREATMENT OF A FEMALE PATIENT WITH HYPOGAMMAGLOBULINEMIA, EVANS SYNDROME, MASSIVE SPLENOMEGALY AND AN EXPANDED POPULATION OF TFH CELLS WITH ABATACEPT D. Mcdonald, H. Niebur, L.M. Charbonnier, T. Chatila (USA)

285

BARICITINIB TREATMENT IN AICARDI-GOUTIÈRES SYNDROME K. Meesilpavikkai, W.A. Dik, B. Schrijver, C.G. Van Helden-Meeuwsen, M.A. Versnel, E.K. Bijlsma, P.M. Van Hagen, V.A.S.H. Dalm (The Netherlands)

286

DOSAGE INCREASE OF INTRAVENOUS IMMUNOGLOBULINE DURING PREGNANCY IN A PATIENT WITH COMMON VARIABLE IMMUNODEFICIENCY. CASE REPORT. L.D. Mendoza Reyna, S. García Lara, B. Chávez García (Mexico)

287

RECOMBINANT HYPERIMMUNE GAMMAGLOBULIN FOR RECURRENT BACTERIAL INFECTIONS IN PRIMARY IMMUNE DEFICIENCY R. Mizrahi, A. Adler, S. Keating, D. Johnson (USA)

288

SUCCESSFUL BONE MARROW TRANSPLANTATION USING AN IMMUNOMYELOSUPPRESSIVE CONDITIONING IN PATIENTS WITH SEVERE CONGENITAL NEUTROPENIA: A SINGLE-INSTITUTE EXPERIENCE S. Nishimura, Y. Mizoguchi, T. Asano, M. Miki, A. Furue, H. Kawaguchi, S. Okada, S. Mochizuki, T. Doi, M. Kobayashi (Japan)

289

SUCCESSFUL TREATMENT OF A PATIENT WITH HEREDITARY ANGIOEDEMA USING SUBCUTANOUS C1 INHIBITOR CONCENTRATE S. Noorani (United Kingdom)

290

THE CLINICAL OPTIONS IN LATE THERAPEUTIC FAILURES IN SCID: FROM THE FETUS TO THE YOUNG ADULT F. Porta, L.D. Notarangelo, E. Soncini, G. Carracchia, A. Beghin, M. Comini, R. Baffelli, A. Lanfranchi (Italy)

291

CYTOMEGALOVIRUS INFECTION AFTER HEMATOPOEITIC STEM CELL TRANSPLANTATION FOR PRIMARY IMMUNODEFICIENCIES M. Ouederni, W. Toueiti, M. Ben Khaled, S. Rekaya, R. Kouki, F. Mellouli, M. Bejaoui (Tunisia)

292

HAPLOIDENTICAL HEMATOPOTIC STEM CELL TRANSPLANTATION USING T-CELL REPLETE GRAFT AND POST-TRANSPLANT CYCLOPHOSPHAMIDE IN PATIENTS WITH SEVERE COMBINED IMMUNE

293

DEFICIENCY (SCID) M. Ouederni, O. Ben Zayed, M. Ben Khaled, S. Rekaya, R. Kouki, F. Mellouli, M. Bejaoui (Tunisia)

TOLERABILITY AND ONBOARDING EXPERIENCE WITH SUBCUTANEOUS HUMAN IMMUNE GLOBULIN 20% (IG20GLY) INFUSED AT HIGH RATES AND VOLUMES IN PEDIATRIC PATIENTS WITH PRIMARY IMMUNODEFICIENCY K. Paris, I. Hussain, S. Gupta, P. Wang, H. Leibl, B. McCoy, L. Yel (USA)

294

A CASE OF GIANT CELL HEPATITIS WITH AUTOIMMUNE HAEMOLYTIC ANEMIA RELATED TO STAT3 GAIN-OF-FUNCTION: REGRESSION OF HEPATIC FIBROSIS AND DIFFUSE ARTHRALGIA UNDER TOCILIZUMAB TREATMENT L. Kollen, F. Rieux Laucat, B. Neven, P. Cougoul, K. Barange, D. Debray, P. Broue, M. Pasquet (France)

295

SENEQA: STUDY ON THE UTILISATION OF FSCIG (10% NORMAL IMMUNOGLOBULIN AND RECOMBINANT HUMAN HYALURONIDASE) IN ELDERLY PATIENTS P. Van Paassen, D. Pittrow, C. Scheidegger, N. Storch, J. Klotsche, P. Ellerbroek (Germany)

296

BI-WEEKLY 20%-SUBCUTANEOUS IMMUNOGLOBULIN (HIZENTRA®) INFUSION IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY: PRIMARY ENDPOINTS IN THE CVID SUBCOHORT OF THE IBIS STUDY S. Ricci, A. Vultaggio, A. Matucci, C. Azzari, B. Martire, V. Palladino, V. Gallo, A. Pecoraro, C. Pignata, G. Spadaro, S. Graziani, V. Moschese, A. Trizzino, G.M. Boggia (Italy)

297

BLEEDING AND SPLENECTOMY IN WISKOTT ALDRICH SYNDROME L. Rivers, A. Worth, A.J. Thrasher, S. Burns (United Kingdom)

298

CHRONIC MENINGOENCEPHALITIS IN XLA. (WHEN) SHOULD HSCT BE ADDRESSED? A.P. Rocha, M. Borges, A. Cordeiro, C. Neves, J. Farela Neves (Portugal)

299

CASE OF SYSTEMIC HUMAN HERPES VIRUS – 6 INFECTION AFTER HEMATOPOIETIC STEM CELL TRANSPLANTATION IN A PATIENT WITH OMENN SYNDROME. A. Laberko, Y. Rodina, R. Pirumova, D. Abramov, D. Balashov, A. Shcherbina (Russia)

300

RAPID PUSH: NEW OPPORTUNITIES IN SUBCUTANEOUS IMMUNOGLOBULIN (SCIG) THERAPY FOR CHILDREN WITH PID (EXPERIENCE WITH GAMUNEX-C PREPARATION). Y. Rodina, E. Deripapa, V. Burlakov, N. Kuzmenko, A. Shcherbina (Russia)

301

AN OPEN-LABEL MULTICENTER STUDY OF THE TOLERABILITY OF HIGHER THAN CURRENT INFUSION PARAMETERS OF THE 20% SUBCUTANEOUS IMMUNOGLOBULIN IGPRO20 IN PRIMARY IMMUNODEFICIENCY: THE HILO STUDY M. Rojavin, M. Praus (USA)

302

SERUM IMMUNOGLOBULIN TROUGH LEVELS FOLLOWING SWITCH FROM INTRAVENOUS TO SUBCUTANEOUS IMMUNOGLOBULIN REPLACEMENT THERAPY AT EQUAL DOSE: DATA FROM EUROPEAN AND JAPANESE TRIALS M. Rojavin, J. Neufang-Hueber, M. Praus, A. Hubsch (USA)

303

REAL WORLD US COSTS OF TREATING PIDD WITH IV AND SC IMMUNOGLOBULINS M.C. Runken, S. Whitmire, J.M. Noone, C.M. Blanchette, E. Zacherle, R. Howden (USA)

304

REAL WORLD INFECTIONS ASSOCIATED WITH ROUTES OF ADMINISTRATION IN PRIMARY IMMUNE DEFICIENCY TREATMENT M.C. Runken, J.M. Noone, C.M. Blanchette, S. Whitmire, E. Zacherle, R. Howden (USA)

305

IMMUNOGLOBULIN REPLACEMENT THERAPY IN SOLID ORGAN TRANSPLANTATION WITH SECONDARY IMMUNEDEFICIENCY (SID): PROOF OF CONCEPT E. Sarmiento, M.L. Rodriguez-Ferrero, E. Zatarain, M. Salcedo, M. Romero, A. Fernandez-Yunquera, M. Valerio, M. Olmedo, P. Navas, I. Sousa-Casasnovas, J. Carbone (Spain)

306

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION FOR INVASIVE DERMATOPHYTOSIS DUE TO CARD9 DEFICIENCY T. Mercier, L. Coorevits, J.C. Goffard, S. Henrard, J. Maertens, R. Schrijvers (Belgium)

307

HEMATOPOIETIC STEM CELL TRANSPLANTATION FOR VPS45 DEFICIENCY B. Shadur, N. Asherie, E. Even Or, I. Zaidman, A. NaserEddin, P. Stepensky (Israel)

308

SUBCUTANEOUS IMMUNOGLOBULINS IN PATIENTS WITH MULTIPLE MYELOMA AND SECONDARY HYPOGAMMAGLOBULINEMIA: A RANDOMIZED TRIAL A. Vacca, A. Melaccio, A. Sportelli, A. Solimando, F. Dammacco, R. Ria (Italy)

309

CASE REPORT: ACQUIRED SKIN VASCULAR LESIONS IN AN IMMUNOCOMPROMISED CHILD: NOT ALWAYS INFECTIOUS. A. Tilmanne, S. Gatineau-Sailliant, A. Danby, E. Haddad, Y. Pastore, M.L. Cossio, C. McCuiag, V. Kokta, B. Tapiero (Canada)

310

EARLY IGG RECONSTITUTION FOLLOWING STEM CELL TRANSPLANTATION FOR PRE-B-ALL IN A PATIENT WITH X-LINKED AGAMMAGLOBULINEMIA M. Van Zelm, M. Pumar, A. Grigg, P. Shuttleworth, P. Aui, J. Smart, J. Bosco (Australia)

311

RAPID PUSH INFUSION - A WELL-TOLERATED, COST-EFFECTIVE METHOD FOR SUBCUTANEOUS SELF-INJECTIONS OF GAMMANORM®: A RANDOMIZED NON-INFERIORITY CROSS-OVER TRIAL IN ADULT PATIENTS WITH PRIMARY IMMUNODEFICIENCIES

312

K. Warnatz, S. Jolles, C. Agostini, M. Borte, C. Bethune, S. Grigoriadou, A. Richter, R. Jain, D. Lowe, C. Katelaris, C. Milito, A.B. Taumberger, M. Cook (Germany)

RECOMMENDATIONS FOR THE MANAGEMENT OF SECONDARY HYPOGAMMAGLOBULINEMIA DUE TO B-CELL TARGETED THERAPIES IN AUTOIMMUNE RHEUMATIC DISEASES S. Wijetilleka, D. Jayne, C. Mukhtyar, A. Ala, P. Bright, H. Chinoy, L. Harper, M. Kazmi, S. Kiani-Alikhan, C. Li, S. Misbah, L. Oni, F. Price-Kuehne, A. Salama, S. Workman, D. Wrench, M.Y. Karim (United Kingdom)

313

IMMUNOGLOBULIN REPLACEMENT THERAPY IN THE MANAGEMENT OF SECONDARY ANTIBODY DEFICIENCY ASSOCIATED WITH B-CELL TARGETED THERAPIES IN AUTOIMMUNE RHEUMATIC DISEASE: SYSTEMATIC LITERATURE REVIEW S. Wijetilleka, C. Mukhtyar, D. Jayne, A. Ala, P. Bright, H. Chinoy, L. Harper, K. Kazmi, S. Kiani-Alikhan, C. Li, S. Misbah, L. Oni, F. Price-Kuehne, A. Salama, S. Workman, D. Wrench, M.Y. Karim (United Kingdom)

314

TARGETED DELIVERY OF CURCUMIN RESCUES ER-RETAINED MUTANT NOX2 PROTEIN AND AVOIDS LEUKOCYTE APOPTOSIS C.L. Yen, Y.C. Liao, R.F. Chen, Y.F. Huang, W.C. Chung, P.C. Lo, C.F. Chang, P.C. Wu, D.B. Shieh, S.T. Jiang, C.C. Shieh (Taiwan R.O.C.)

315

AUTOSOMAL DOMINANT IFNGR1 WITH ACTIVE DISSEMINATED NONTUBERCULOUS MYCOBACTERIAL INFECTION: SUCCESSFUL MATCHED RELATED DONOR HEMATOPOIETIC STEM CELL TRANSPLANTATION C. Zerbe, J. Gea-Banacloche, S. Kreuzburg, A. Rump, D. Dimitrova, S. Holland, J. Kanakry (USA)

316

ANAKINRA AS A SALVAGE TREATMENT FOR A SEVERE REFRACTORY CHRONIC GRANULOMATOUS DISEASE M. Serbes, D. Doğruel, A.Ş. Sasihuseyinoğlu, M. Yılmaz, D.U. Altıntaş (Turkey)

317

THE USE OF OMALIZUMAB FOR DERMATOLOGIC MANIFESTATIONS OF HYPER-IGE SYNDROME – A CASE REPORT J. Miranda, N. Gomes, L. Leão, T. Baudrier, J. Torres Costa (Portugal)

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