Severe combined immune deficiency in Nablus

Omar Abuzaitoun, MD

SCID

• Primary immune deficiency diseases are considered rare diseases. SCID is one of the most common of this group of illnesses.

• Almost 8 different molecular defects have been described with different mode of inheritance. AR, and X linked inheritance.

Clinical presentation

• Usually early in life; before the age of 6 months chronic bronchiolitis like picture, chronic diarrhea, failure to thrive, skin rash eczema like, fever, and sepsis.

Our cases.

• Only cases from Nablus and the villages around are included.• From December 1999 to September

2008.• Private office settings, as a general

pediatrician and occasional referrals.

SCID

• 10 patients were diagnosed.• 6 males and 4 females.• The following slide show the initial

presentation that initiated the work up for SCID.

Initial presentation

Eczema like skin rash in young infant

4 cases.

Prolonged fever, > 2 weeks in young infant

2 cases.

Chronic diarrhea with failure to thrive.

4 cases.

Chest infection, prolonged bronchiolitis like picture

5 patients.

Lymphopenia ALC < 1500 7 patientsWork up was initiated because a sibling died with SCID or thought to be SCID

3 patients.

Lymphocyte phenotyping

T negative B negative and NK positive

8 cases.

T positive, B negative and NK positive

2 cases (Ommen’s syndrome)

Unwanted practice before and after diagnosis

• All infants, except the 3 who were screened, received life vaccine (BCG)• Blood transfusion: 3 patient

received blood that was not tested for CMV, nor it was irradiated or leukocyte depleted.

Unwanted practice/Use of steroids

• All patients who had bronchiolitis like illness received systemic steroids.• Some needed antibiotics like

IV cotrimexasole and amphotericin were not available.

Outcome

• 6 patient who were symptomatic on presentation died. 5 of them died in Watani hospital, and one died one day after arrival to a tertiary center for treatment.

• One patient died at home as the family refused the offered bone marrow transplantation.

• 3 patients who were screened for the illness were transplanted, one of them died 3 weeks after transplant. 2 of them are still surviving.

Conclusions• An unaccepted high mortality rate. 100% when

symptomatic, 70% as overall MR.• Late diagnosis played an important factor, all

symptomatic patients died.• Psychosocial issues: one patient was denied his right

of treatment though diagnosis was made early, patient was asymptomatic.

• Unwanted medical practice like systemic steroids for young infants with bronchiolitis are common.

• All cases are autosomal recessive, raising the issue of consanguinity as a major impact on high incidence of rare and fatal diseases in our community.