Heather N Hartman Julie Niemela Mary K Hintermeyer Mary Garofalo Jennifer Stoddard James W Verbsky Sergio D Rosenzweig John M Routes
10.1007/s10875-014-0109-1
J Clin Immunol
2015 Jan;35(1):11-4.
pik3cd immunodeficiency primary sclerosing cholangitis recurrent infections
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/25352054/
Cholangitis, Sclerosing / enzymology Cholangitis, Sclerosing / genetics Class I Phosphatidylinositol 3-Kinases / genetics Mutation, Missense
Cholangitis, Sclerosing / enzymology Cholangitis, Sclerosing / genetics Class I Phosphatidylinositol 3-Kinases / genetics Mutation, Missense Case Reports Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't Adult Amino Acid Substitution Child Cholangitis, Sclerosing / immunology Class I Phosphatidylinositol 3-Kinases / immunology Class I Phosphatidylinositol 3-Kinases / metabolism Female Heterozygote Humans Immunologic Deficiency Syndromes / enzymology Immunologic Deficiency Syndromes / genetics Immunologic Deficiency Syndromes / immunology Liver / pathology Male Pedigree Class I Phosphatidylinositol 3-Kinases PIK3CD protein, human
PMC4769101
25352054
Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis
2015