title: A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency.
authors.affiliation: Centre for Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany; Faculty of Biology, Albert-Ludwigs-University, Freiburg, Germany.
authors.forename: Kathrin
authors.initials: K
authors.lastname: Pieper
authors.affiliation: Centre for Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany.
authors.forename: Marta
authors.initials: M
authors.lastname: Rizzi
authors.affiliation: Faculty of Medicine, Department of Immunology & Histocompatibility, University of Thessaly, Larissa, Greece.
authors.forename: Matthaios
authors.initials: M
authors.lastname: Speletas
authors.affiliation: Faculty of Medicine, Department of Biochemistry, University of Lausanne, Lausanne, Switzerland.
authors.forename: Cristian R
authors.initials: CR
authors.lastname: Smulski
authors.affiliation: Centre for Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany; Faculty of Biology, Albert-Ludwigs-University, Freiburg, Germany.
authors.forename: Heiko
authors.initials: H
authors.lastname: Sic
authors.affiliation: Centre for Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany; Faculty of Biology, Albert-Ludwigs-University, Freiburg, Germany.
authors.forename: Helene
authors.initials: H
authors.lastname: Kraus
authors.affiliation: Centre for Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany.
authors.forename: Ulrich
authors.initials: U
authors.lastname: Salzer
authors.affiliation: Spemann Graduate School of Biology and Medicine (SGBM), Albert Ludwigs University, Freiburg, Freiburg, Germany.
authors.forename: Gina J
authors.initials: GJ
authors.lastname: Fiala
authors.affiliation: Centre for Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany; Faculty of Biology, Institute of Biology III, and BIOSS Center for Biological Signalling Studies, Albert-Ludwigs University Freiburg, Freiburg, Germany.
authors.forename: Wolfgang W
authors.initials: WW
authors.lastname: Schamel
authors.affiliation: Pediatric Clinic and A. Nocivelli Institute of Molecular Medicine, University of Brescia, Spedali Civili, Brescia, Italy.
authors.forename: Vassilios
authors.initials: V
authors.lastname: Lougaris
authors.affiliation: Pediatric Clinic and A. Nocivelli Institute of Molecular Medicine, University of Brescia, Spedali Civili, Brescia, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Plebani
authors.affiliation: Department of Laboratory Medicine, Karolinska Institutet, Huddinge, Sweden.
authors.forename: Lennart
authors.initials: L
authors.lastname: Hammarstrom
authors.affiliation: Division of Immunology and The Manton Center for Orphan Disease Research Center, Children's Hospital, Boston, Mass.
authors.forename: Mike
authors.initials: M
authors.lastname: Recher
authors.affiliation: Faculty of Medicine, Department of Immunology & Histocompatibility, University of Thessaly, Larissa, Greece.
authors.forename: Anastasios E
authors.initials: AE
authors.lastname: Germenis
authors.affiliation: Centre for Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany.
authors.forename: Bodo
authors.initials: B
authors.lastname: Grimbacher
authors.affiliation: Centre for Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany.
authors.forename: Klaus
authors.initials: K
authors.lastname: Warnatz
authors.affiliation: Developmental and Molecular Immunology, Department of Biomedicine, University of Basel, Basel, Switzerland.
authors.forename: Antonius G
authors.initials: AG
authors.lastname: Rolink
authors.affiliation: Faculty of Medicine, Department of Biochemistry, University of Lausanne, Lausanne, Switzerland.
authors.forename: Pascal
authors.initials: P
authors.lastname: Schneider
authors.affiliation: Developmental and Molecular Immunology, Department of Biomedicine, University of Basel, Basel, Switzerland.
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.affiliation: Centre for Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany. Electronic address: hermann.eibel@uniklinik-freiburg.de.
authors.forename: Hermann
authors.initials: H
authors.lastname: Eibel
mesh_terms: D053264:B-Cell Activating Factor / Q000378:metabolism; D017074:Common Variable Immunodeficiency / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D055503:Protein Multimerization; D019948:Receptors, Interleukin-4 / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism
chemical_list: D053264:B-Cell Activating Factor; D019948:Receptors, Interleukin-4