Severe combined immune deficiency syndrome

ABSTRACT

To determine the clinico-demographic features and laboratory parameters of children with severe combined immunodeficiency [SCID]. Case series. Department of Paediatrics and Child Health, the Aga Khan University, Karachi, from July 2006 to July 2011. Thirteen infants who were discharged with a diagnosis of SCID were inducted in the study. Their clinico-demographic features and laboratory parameters were determined. Descriptive statistics has been used for computing frequency and percentage. 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. SCID should be considered in infants presenting with severe and recurrent infections. Low ALC [< 2500/mm[3]], is a reliable diagnostic feature of SCID. These infants should be promptly referred to a facility where stem cell transplant can be done