A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency - 29/03/14

Kathrin Pieper, PhD ^{a, b}, Marta Rizzi, MD, PhD ^a, ∗

  These authors contributed equally to this work.

, Matthaios Speletas, MD, PhD ^c, ∗

  These authors contributed equally to this work.

, Cristian R. Smulski, PhD ^d, ∗

  These authors contributed equally to this work.

, Heiko Sic, PhD ^{a, b}, Helene Kraus, MSc ^{a, b}, Ulrich Salzer, MD ^a, Gina J. Fiala, MSc ^{a, e}, Wolfgang W. Schamel, PhD ^{a, e}, Vassilios Lougaris, MD ^f, Alessandro Plebani, MD ^f, Lennart Hammarstrom, MD, PhD ^g, Mike Recher, MD ^h, Anastasios E. Germenis, MD, PhD ^c, Bodo Grimbacher, MD ^a, Klaus Warnatz, MD, PhD ^a, Antonius G. Rolink, PhD ⁱ, Pascal Schneider, PhD ^d, Luigi D. Notarangelo, MD ⁱ, Hermann Eibel, PhD ^a

^a Centre for Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg, Germany 

^b Faculty of Biology, Albert-Ludwigs-University, Freiburg, Germany 

^c Faculty of Medicine, Department of Immunology & Histocompatibility, University of Thessaly, Larissa, Greece 

^d Faculty of Medicine, Department of Biochemistry, University of Lausanne, Lausanne, Switzerland 

^e Faculty of Biology, Institute of Biology III, and BIOSS Center for Biological Signalling Studies, Albert-Ludwigs University Freiburg, Freiburg, Germany 

^f Pediatric Clinic and A. Nocivelli Institute of Molecular Medicine, University of Brescia, Spedali Civili, Brescia, Italy 

^g Department of Laboratory Medicine, Karolinska Institutet, Huddinge, Sweden 

^h Division of Immunology and The Manton Center for Orphan Disease Research Center, Children's Hospital, Boston, Mass 

ⁱ Developmental and Molecular Immunology, Department of Biomedicine, University of Basel, Basel, Switzerland