Objective: To determine the clinico-demographic features and laboratory parameters of children with severe combined immunodeficiency (SCID).
Study design: Case series.
Place and duration of study: Department of Paediatrics and Child Health, the Aga Khan University, Karachi, from July 2006 to July 2011.
Methodology: 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.
Conclusion: 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.