A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency

Affiliations

• ¹ Centre for Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany; Faculty of Biology, Albert-Ludwigs-University, Freiburg, Germany.
• ² Centre for Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany.
• ³ Faculty of Medicine, Department of Immunology & Histocompatibility, University of Thessaly, Larissa, Greece.
• ⁴ Faculty of Medicine, Department of Biochemistry, University of Lausanne, Lausanne, Switzerland.
• ⁵ Spemann Graduate School of Biology and Medicine (SGBM), Albert Ludwigs University, Freiburg, Freiburg, Germany.
• ⁶ 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.
• ⁷ Pediatric Clinic and A. Nocivelli Institute of Molecular Medicine, University of Brescia, Spedali Civili, Brescia, Italy.
• ⁸ Department of Laboratory Medicine, Karolinska Institutet, Huddinge, Sweden.
• ⁹ Division of Immunology and The Manton Center for Orphan Disease Research Center, Children's Hospital, Boston, Mass.
• ¹⁰ Developmental and Molecular Immunology, Department of Biomedicine, University of Basel, Basel, Switzerland.
• ¹¹ Centre for Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany. Electronic address: hermann.eibel@uniklinik-freiburg.de.