A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease
β Scribed by Richard L. Somberg; Robin P. Pullen; Margret L. Casal; Donald F. Patterson; Peter J. Felsburg; Paula S. Henthorn
- Book ID
- 119100231
- Publisher
- Elsevier Science
- Year
- 1995
- Tongue
- English
- Weight
- 939 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0165-2427
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π SIMILAR VOLUMES
Three novel mutations in the IL-2R gamma chain gene were identified in four Japanese patients with X-linked severe combined immunodeficiency by direct sequence analysis of polymerase chain reaction (PCR) amplified DNA fragments.
Mutations in the gene encoding the common gamma chain (Ξ³c) of interleukin receptors 2, 4, 7, 9, 15 and 21 result in X-linked severe combined immunodeficiency (SCID-X1). Classically, this disease is characterised by an absence of T and NK cells, and near normal numbers of functionally deficient B cel