Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis. J Clin Immunol 2015 Jan;35(1):11-4
Date
10/30/2014Pubmed ID
25352054Pubmed Central ID
PMC4769101DOI
10.1007/s10875-014-0109-1Scopus ID
2-s2.0-84943195340 (requires institutional sign-in at Scopus site) 50 CitationsAbstract
Gain of function (GOF) mutation in the p110δ 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.
Author List
Hartman HN, Niemela J, Hintermeyer MK, Garofalo M, Stoddard J, Verbsky JW, Rosenzweig SD, Routes JMAuthor
James Verbsky MD, PhD Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdultAmino Acid Substitution
Child
Cholangitis, Sclerosing
Class I Phosphatidylinositol 3-Kinases
Female
Heterozygote
Humans
Immunologic Deficiency Syndromes
Liver
Male
Mutation, Missense
Pedigree
