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Severe combined immune deficiency syndrome

Ali Faisal Saleem1, Ranish Deedar Ali Khawaja, Abdul Sattar Shaikh

  • 1Department of Paediatrics and Child Health, The Aga Khan University Hospital, Karachi, Pakistan. ali.saleem@aku.edu

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|August 13, 2013
PubMed

Insights

Severe combined immunodeficiency (SCID) in infants presents with severe malnutrition and recurrent infections. Low absolute lymphocyte count (ALC) is a key diagnostic indicator, necessitating prompt stem cell transplant referral.

Area of Science:

  • Pediatric Immunology
  • Clinical Genetics
  • Hematology

Background:

  • Severe combined immunodeficiency (SCID) is a rare genetic disorder characterized by profound defects in cellular and humoral immunity.
  • Early diagnosis and treatment are crucial for survival in infants with SCID.

Purpose of the Study:

  • To characterize the clinical, demographic, and laboratory features of infants diagnosed with SCID.
  • To identify key indicators for early diagnosis of SCID in a Pakistani cohort.

Main Methods:

  • A case series design was employed, analyzing data from thirteen infants diagnosed with SCID.
  • Clinicodemographic data and laboratory parameters, including absolute lymphocyte count (ALC), were collected and analyzed using descriptive statistics.

Main Results:

  • The median age at diagnosis was five months, with 77% of affected infants being male.
  • Eighty-five percent of infants presented with severe malnutrition, and 69% were products of consanguineous marriages.
  • All infants exhibited severe lymphopenia (ALC 170-2280) and reduced T and B lymphocyte counts.

Conclusions:

  • SCID should be suspected in infants presenting with severe, recurrent infections.
  • A low ALC (< 2500/mm³) is a significant diagnostic marker for SCID.
  • Prompt referral for stem cell transplantation is essential for managing SCID patients.
Abstract

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