SEVERE COMBINED IMMUNE DEFICIENCY

Abstract

Severe combined immune deficiency is a disorder characterized by defective production or function of lymphocytes resulting in early-onset severe infections in infants. It is a medical emergency and needs to be recognized early for optimal treatment outcomes. Opportunistic infections are the hallmark clinical manifestation and presence of lymphopenia in complete blood counts is a vital clue for diagnosis. Diagnosis can be confirmed by lymphocyte subset analysis with flow cytometry. Hematopoietic stem cell transplantation is the treatment of choice. Establishment of genetic diagnosis is needed for counselling of the affected families.