Severe combined immune deficiency syndrome

Ali Faisal Saleem, Ranish Deedar Ali Khawaja, Abdul Sattar Shaikh, Syed Asad Ali, Anita Kaniz Mehdi Zaidi

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


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 dischargedwitha 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. Results: The median age at diagnosis was five months; 5 infants presented within 3 monthsof 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 beconsidered in infants presenting with severe and recurrent infections. Low ALC (2500/mm3), is a reliable diagnostic feature of SCID. Theseinfants should be promptly referred to a facility where stem cell transplant can be done.

Original languageEnglish
Pages (from-to)570-573
Number of pages4
JournalJournal of the College of Physicians and Surgeons--Pakistan : JCPSP
Issue number8
Publication statusPublished - 2013


  • Absolute lymphocyte count (ALC)
  • Infants
  • Lymphopenia
  • Recurrent infections
  • Severe combined immune deficiency (SCID)


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