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S.64. Severe Combined Immunodeficiency Associated with a Novel IL2RG Mutation

✍ Scribed by Kent Robertson; Robert Nelson; W. Scott Goebel; Darla Gowan; Kathleen Boyd; Michael Tsangaris; Jennifer Puck; Paul Haut


Book ID
113541194
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
42 KB
Volume
131
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