title: Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R.
authors.affiliation: CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria Department of Pediatric Immunology, Hacettepe University of Medicine, Ankara, Turkey.
authors.forename: Baran
authors.initials: B
authors.lastname: Erman
authors.affiliation: CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
authors.forename: Ivan
authors.initials: I
authors.lastname: Bilic
authors.affiliation: CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
authors.forename: Tatjana
authors.initials: T
authors.lastname: Hirschmugl
authors.affiliation: CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Salzer
authors.affiliation: Department of Pediatric Immunology, Hacettepe University of Medicine, Ankara, Turkey.
authors.forename: Deniz
authors.initials: D
authors.lastname: Çagdas
authors.affiliation: Department of Pediatric Immunology, Hacettepe University of Medicine, Ankara, Turkey.
authors.forename: Saliha
authors.initials: S
authors.lastname: Esenboga
authors.affiliation: Department of Pediatric Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Zuhal
authors.initials: Z
authors.lastname: Akcoren
authors.affiliation: Department of Pediatric Immunology, Hacettepe University of Medicine, Ankara, Turkey.
authors.forename: Ozden
authors.initials: O
authors.lastname: Sanal
authors.affiliation: Department of Pediatric Immunology, Hacettepe University of Medicine, Ankara, Turkey.
authors.forename: Ilhan
authors.initials: I
authors.lastname: Tezcan
authors.affiliation: CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria kboztug@cemm.oeaw.ac.at fetezcan@hacettepe.edu.tr.
authors.forename: Kaan
authors.initials: K
authors.lastname: Boztug
mesh_terms: D002648:Child; D015209:Cholangitis, Sclerosing / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D053738:Interleukin-21 Receptor alpha Subunit / Q000235:genetics*; D008297:Male; D018344:T-Lymphocytopenia, Idiopathic CD4-Positive / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
chemical_list: C508117:IL21R protein, human; D053738:Interleukin-21 Receptor alpha Subunit
keywords: CD4 lymphopenia; IL21R; combined immunodeficiencies; loss-of-function mutation; sclerosing cholangitis