Presentation on theme: "Severe combined immune deficiency in Nablus Omar Abuzaitoun, MD."— Presentation transcript:
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 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 < patients Work 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.