Severe combined immune deficiency syndrome.

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.