Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

Haematologica. 2015 Jun;100(6):e216-9. doi: 10.3324/haematol.2014.120980. Epub 2015 Mar 13.
No abstract available

Keywords: CD4 lymphopenia; IL21R; combined immunodeficiencies; loss-of-function mutation; sclerosing cholangitis.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Cholangitis, Sclerosing / complications
  • Cholangitis, Sclerosing / diagnosis
  • Cholangitis, Sclerosing / genetics*
  • Frameshift Mutation / genetics*
  • Humans
  • Immunologic Deficiency Syndromes / complications
  • Immunologic Deficiency Syndromes / diagnosis
  • Immunologic Deficiency Syndromes / genetics*
  • Interleukin-21 Receptor alpha Subunit / genetics*
  • Male
  • T-Lymphocytopenia, Idiopathic CD4-Positive / complications
  • T-Lymphocytopenia, Idiopathic CD4-Positive / diagnosis
  • T-Lymphocytopenia, Idiopathic CD4-Positive / genetics*

Substances

  • IL21R protein, human
  • Interleukin-21 Receptor alpha Subunit