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Journal article

Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG.

Abstract:

The present study focuses on a large family with an X-linked immunodeficiency in which there are variable clinical and laboratory phenotypes, including recurrent viral and bacterial infections, hypogammaglobulinemia, Epstein-Barr virus-driven lymphoproliferation, splenomegaly, colitis, and liver disease. Molecular and genetic analyses revealed that affected males were carriers of a hypomorphic hemizygous mutation in XIAP (XIAP(G466X)) that cosegregated with a rare polymorphism in CD40LG (CD40...

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Publication status:
Published

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Journal:
Blood
Volume:
118
Issue:
2
Pages:
252-261
Publication date:
2011-07-05
DOI:
EISSN:
1528-0020
ISSN:
0006-4971
URN:
uuid:aaeaf77e-331c-4103-8f41-a81c910dd9db
Source identifiers:
167639
Local pid:
pubs:167639

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