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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.