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Efficient Detection of Thirty-Seven New IL2RG Mutations in Human X-Linked Severe Combined Immunodeficiency

✍ Scribed by Julie E. Niemela; Jennifer M. Puck; Roxanne E. Fischer; Thomas A. Fleisher; Amy P. Hsu


Book ID
115593729
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
103 KB
Volume
95
Category
Article
ISSN
1090-2341

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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