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

Journal of Allergy and Clinical Immunology

Volumn 133, Issue 4, 2014, Pages 1222-1225.e10

  Pieper, Kathrin ^a,b   Rizzi, Marta ^a   Speletas, Matthaios ^c   Smulski, Cristian R ^d   Sic, Heiko ^a,b   Kraus, Helene ^a,b   Salzer, Ulrich ^a   Fiala, Gina J ^a,b   Schamel, Wolfgang W ^a,b   Lougaris, Vassilios ^e   Plebani, Alessandro ^e   Hammarstrom, Lennart ^f   Recher, Mike ^g   Germenis, Anastasios E ^c   Grimbacher, Bodo ^a   Warnatz, Klaus ^a   Rolink, Antonius G ^h   Schneider, Pascal ^d   Notarangelo, Luigi D ^h   Eibel, Hermann ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF THESSALY   (Greece)

^d UNIVERSITY OF LAUSANNE   (Switzerland)

^e UNIVERSITY OF BRESCIA   (Italy)

^f KAROLINSKA INSTITUTE   (Sweden)

^g BOSTON CHILDREN S HOSPITAL   (United States)

^h UNIVERSITY OF BASEL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

B CELL ACTIVATING FACTOR RECEPTOR; TUMOR NECROSIS FACTOR RECEPTOR;

B LYMPHOCYTE; CELL SURVIVAL; COMMON VARIABLE IMMUNODEFICIENCY; COMPLEX FORMATION; CRYSTAL STRUCTURE; DISEASE ASSOCIATION; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENE FREQUENCY; GENETIC ASSOCIATION; HUMAN; LETTER; LIGAND BINDING; MISSENSE MUTATION; PRE B LYMPHOCYTE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TWO DIMENSIONAL GEL ELECTROPHORESIS;

B-CELL ACTIVATING FACTOR; COMMON VARIABLE IMMUNODEFICIENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN MULTIMERIZATION; RECEPTORS, INTERLEUKIN-4;

EID: 84897469677     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.11.021     Document Type: Article

References (10)

1. Y. Sasaki, S. Casola, J.L. Kutok, K. Rajewsky, and M. Schmidt-Supprian TNF family member B cell-activating factor (BAFF) receptor-dependent and -independent roles for BAFF in B cell physiology J Immunol 173 2004 2245 2252
2. K. Warnatz, U. Salzer, M. Rizzi, B. Fischer, S. Gutenberger, and J. Bohm et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans Proc Natl Acad Sci U S A 106 2009 13945 13950
3. L.D. Notarangelo Primary immunodeficiencies J Allergy Clin Immunol 125 2010 S182 S194
4. C.G. Losi, A. Silini, C. Fiorini, A. Soresina, A. Meini, and S. Ferrari et al. Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency J Clin Immunol 25 2005 496 502
5. F.K. Chan Three is better than one: pre-ligand receptor assembly in the regulation of TNF receptor signaling Cytokine 37 2007 101 107
6. L. Garibyan, A.A. Lobito, R.M. Siegel, M.E. Call, K.W. Wucherpfennig, and R.S. Geha Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID) J Clin Invest 117 2007 1550 1557
7. A. Cerutti, M. Cols, and I. Puga Marginal zone B cells: virtues of innate-like antibody-producing lymphocytes Nat Rev Immunol 13 2013 118 132
8. K. Warnatz, U. Salzer, M. Rizzi, B. Fischer, S. Gutenberger, and J. Bohm et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans Proc Natl Acad Sci U S A 106 2009 13945 13950
9. M. Swamy, G.M. Siegers, S. Minguet, B. Wollscheid, and W.W. Schamel Blue native polyacrylamide gel electrophoresis (BN-PAGE) for the identification and analysis of multiprotein complexes Sci STKE 2006 2006 pl4
10. C. Banning, J. Votteler, D. Hoffmann, H. Koppensteiner, M. Warmer, and R. Reimer et al. A flow cytometry-based FRET assay to identify and analyse protein-protein interactions in living cells PLoS One 5 2010 e9344