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X-linked agammaglobulinemia in a 10-year-old boy with a novel non-invariant splice-site mutation in Btk gene

✍ Scribed by Kota Maekawa; Masafumi Yamada; Yuka Okura; Yasumasa Sato; Yutaka Yamada; Nobuaki Kawamura; Tadashi Ariga


Book ID
116304745
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
572 KB
Volume
44
Category
Article
ISSN
1079-9796

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A novel splice-site mutation in the comm
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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