期刊
JOURNAL OF CLINICAL IMMUNOLOGY
卷 35, 期 1, 页码 11-14出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-014-0109-1
关键词
PIK3CD; immunodeficiency; primary sclerosing cholangitis; recurrent infections
类别
资金
- Intramural NIH HHS [Z99 CL999999] Funding Source: Medline
Gain of function (GOF) mutation in the p110 delta catalytic subunit of the phosphatidylinositol-3-OH kinase (PIK3CD) is the cause of a primary immunodeficiency (PID) characterized by recurrent sinopulmonary infections and lymphoproliferation. We describe a family of two adults and three children with GOF mutation in PIK3CD, all with recurrent sinopulmonary infections and varied infectious and non-infectious complications. The two adults have Primary Sclerosing Cholangitis (PSC) without evidence of Cryptosporidium parvum infection and have required liver transplantation. PSC is a novel phenotype of GOF mutation in PIK3CD.
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