| umls-concept:C0085110 | skos:definition | MSH: Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).,CSP: group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels; it is inherited as an X-linked or autosomal recessive defect; about half of the patients with autosomal recessive SCID are deficient in the enzyme adenosine deaminase.,NCI: A rare, inherited disease that is marked by a lack of B lymphocytes (white blood cells that make antibodies and help fight infections) and a lack of T lymphocytes (white blood cells that attack virus-infected cells, foreign cells, and cancer cells). Patients with this disease have a high risk of developing viral, bacterial, and fungal infections.,NCI: X-linked or autosoma | lld:umls |
