C4682Level 5
X-Linked Severe Combined Immunodeficiency
**Semantic type:** Disease or Syndrome
**Definition:** An X-linked form of severe combined immunodeficiency characterized as T-cell negative, B-cell positive, NK cell negative, and with mutations in the IL2RG gene, resulting in an impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels.
**Synonyms:** - X-linked SCID - XL IL2RG
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