Severe Combined Immunodeficiency

Description of the disease
Symptoms

Severe Combined Immunodeficiency – a genetic syndrome characterized by a deficiency in cellular and humoral immunity and decreased T cell count. Clinically, the disease manifests with early opportunistic infections, developmental delay, and chronic diarrhea. Untreated, newborns die within the first years of life. Every child with a decreased leukocyte count should be evaluated for severe combined immunodeficiency. This disease is treated with hematopoietic stem cell transplantation, gene therapy, enzyme replacement therapy. If severe combined immunodeficiency is suspected in an infant, they should not be vaccinated.

Source | Author Doctor Nikas Samuolis, reviewed by Prof. Virginijus Šapoka | Vilnius University | Faculty of Medicine | Head of the Department of Internal Medicine, Family Medicine, and Oncology