Severe Combined Immunodeficiency

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).

Also Known As:

Bare Lymphocyte Syndrome; Immunodeficiency Syndrome, Severe Combined; Immunologic Deficiency, Severe Combined; Omenn's Syndrome; Reticuloendotheliosis, Familial; Severe Combined Immune Deficiency; Severe Combined Immunodeficiency Syndrome; Severe Combined Immunologic Deficiency; Bare Lymphocyte Syndromes; Combined Immunodeficiencies, Severe; Combined Immunodeficiency, Severe; Familial Reticuloendothelioses; Familial Reticuloendotheliosis; Immunodeficiencies, Severe Combined; Lymphocyte Syndrome, Bare; Lymphocyte Syndromes, Bare; Omenns Syndrome; Reticuloendothelioses, Familial; Severe Combined Immunodeficiencies; Syndrome, Bare Lymphocyte; Syndrome, Omenn; Syndrome, Omenn's; Syndromes, Bare Lymphocyte; Immunodeficiency, Severe Combined; Omenn Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Primary Immunodeficiency Diseases: 1189
    - Severe Combined Immunodeficiency: 2749
- Diseases Newborn Infant: 266
  - Severe Combined Immunodeficiency: 2749
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - DNA Repair-Deficiency Disorders: 538
    - Severe Combined Immunodeficiency: 2749
Immune System Diseases: 4321
- Immunologic Deficiency Syndromes: 91
  - Primary Immunodeficiency Diseases: 1189
    - Severe Combined Immunodeficiency: 2749

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