Severe combined immune deficiency syndrome.
OBJECTIVE
To determine the clinico-demographic features and laboratory parameters of children with severe combined immunodeficiency (SCID).


METHODS
Case series.


METHODS
Department of Paediatrics and Child Health, the Aga Khan University, Karachi, from July 2006 to July 2011.


METHODS
Thirteen infants who were discharged with a diagnosis of SCID were inducted in the study. Their clinicodemographic features and laboratory parameters were determined. Descriptive statistics has been used for computing frequency and percentage.


RESULTS
The median age at diagnosis was five months; 5 infants presented within 3 months of life. Three-fourth (77%) were males. Most of the infants were severely malnourished (85%) at the time of presentation. More than two-thirds (69%) were products of consanguineous marriages. All subjects had severe lymphopenia {absolute lymphocyte count (ALC) ranging between 170 - 2280} and low T and B lymphocyte counts.


CONCLUSIONS
SCID should be considered in infants presenting with severe and recurrent infections. Low ALC (< 2500/mm³), is a reliable diagnostic feature of SCID. These infants should be promptly referred to a facility where stem cell transplant can be done.
Department of Paediatrics and Child Health, The Aga Khan University Hospital, Karachi, Pakistan. ali.saleem@aku.edu
Ali Faisal
AF
Saleem
Ranish Deedar
RD
Ali Khawaja
Abdul Sattar
AS
Shaikh
Syed Asad
SA
Ali
Anita Kaniz
AK
Mehdi Zaidi
D001402:B-Lymphocytes / Q000276:immunology*; D015331:Cohort Studies; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D018655:Lymphocyte Count; D008231:Lymphopenia / Q000453:epidemiology / Q000209:etiology; D008297:Male; D044342:Malnutrition / Q000453:epidemiology / Q000209:etiology; D010154:Pakistan / Q000453:epidemiology; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000453:epidemiology / Q000276:immunology; D017678:Sex Distribution; D013601:T-Lymphocytes / Q000276:immunology*