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10.1007/s10875-014-0109-1

http://scihub22266oqcxt.onion/10.1007/s10875-014-0109-1
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C4769101!4769101!25352054
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suck abstract from ncbi


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pmid25352054      J+Clin+Immunol 2015 ; 35 (1): 11-4
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  • Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis #MMPMID25352054
  • Hartman HN; Niemela J; Hintermeyer MK; Garofalo M; Stoddard J; Verbsky JW; Rosenzweig SD; Routes JM
  • J Clin Immunol 2015[Jan]; 35 (1): 11-4 PMID25352054show ga
  • Gain of function (GOF) mutation in the p110? 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 PI3CKD.
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