Transcript Severe combined immune deficiency in Nablus

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
2 cases.
young infant
Chronic diarrhea with failure to 4 cases.
thrive.
Chest infection, prolonged
bronchiolitis like picture
Lymphopenia ALC < 1500
5 patients.
Work up was initiated because
a sibling died with SCID or
thought to be SCID
3 patients.
7 patients
Lymphocyte phenotyping
T negative B negative and NK
positive
T positive, B negative and NK
positive
8 cases.
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.