A greatly over-simplified approach to primary immunodeficieny
Humoral Cellular Phagocytic Complement
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Case 1 11 month old infant Recurrent fevers at least six
episodes One episode of gastroenteritis, lasting six days Two
episodes of otitis media
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Relevant history Growth Development Type of infections, and how
documented Duration Response to therapy Other illnesses Family
history- consanguinity ? Exposure
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PID ???
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Case 2 Three year old boy Recurrent lobar pneumonia beginning
at six months of age One episode of sepsis caused by Strep.
pneumoniae
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Relevant history Growth Development Type of infections, and how
documented Duration Response to therapy Other illnesses Family
history Exposure
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PID ???
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Humoral Cellular Phagocytic Complement
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Hallmarks of Humoral Immune Deficiency Respiratory tract
infections: Pneumonia, otitis media, sinusitis Encapsulated
microorganisms: Pneumococcus, H. influenzae, Staph aureus Chronic
diarrhea, other infections, various complications depending on
molecular variant Begin after 6 months of age Opportunistic
infections uncommon
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Three Criteria for Diagnosis of Humoral Immune Deficiency
Characteristic recurrent infections Low serum concentration of IgG
(be sure to check age-appropriate norms) Response to
immunizations
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Type:JPG. Cunningham-Rundles C et al 2005
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Clinical question What physical finding helps distinguish
between B cell positive and B cell negative forms of
hypogammaglobulinemia ?
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Case 3 Eight year old boy Second episode of meningitis caused
by Neisseria meningitides
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PID ???
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Cellular Phagocytic Complement
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Complement Pathway Holers in: R Rich et al (eds) Clinical
Immunology, 1986, p365
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Abbas et al, Cellular and Molecular Immunology, 6E
Case 4 On month old boy Failure thrive Persistent diarrhea
Pneumonia Pneumocystic jirovecii Sibling died at three months of
age of presumed SIDS
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Cellular Phagocytic
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Fischer A, Nat Rev Immunol 2:615, 2002
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Evaluation of cellular immunity Total lymphocyte count (CBC)
Presence of thymus Delayed hypersensitivty Flow cytometry
Lymphocyte responses to mitogens
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http://crl.berkeley.edu/flow_cytometry_basic.html Always order
a complete blood count with lymphocyte subset analysis.
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Molecular screening for SCID
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Phagocytic
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Three categories of phagocytic cell defects No cells Cells dont
know where to go Cells dont know what to do when they get
there
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No cells Several genetic forms including cyclic Diagnosis:
complete blood count, peripheral blood smear, bone marrow
examination Bacteremia No Pus !! GCSF BMT
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Cells dont know where to go: Leukocyte adhesion deficiency
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LAD-1 Clinical features Delayed umbilical cord separation
Marked granulocytosis in peripheral blood