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IL2RGbase: a database of γc-chain defects causing human X-SCID

1996; Elsevier BV; Volume: 17; Issue: 11 Linguagem: Inglês

10.1016/s0167-5699(96)80903-0

1355-8242

Jennifer M. Puck, Geneviève de Saint Basile, Klaus Schwarz, Sebastian D. Fugmann, Roxanne Fischer,

Pediatric health and respiratory diseases

X-linked severe combined immunodeficiency (X-SCID) is an immune disorder caused by mutations in the X-linked gene IL2RG, which encodes the common γ chain of the lymphocyte receptors for interleukin 2 (IL-2) and many other cytokines. A database of human X-SCID mutations (IL2RGbase) has been assembled, and this article summarizes the first 136 entries from unrelated patients.