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

Superimposing the structural model of BAFFR on the CRD1 of TNFR1 shows that P21 corresponds to Q46 of TNFR1 (Fig E3, B), a residue involved in TNFR1-TNFR1 interactions in the crystal structure of dimeric TNFR1 (Fig E3, C). [...]we speculated that the P21 residue might form part of the yet to be iden...

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Veröffentlicht in:	Journal of allergy and clinical immunology 2014-04, Vol.133 (4), p.1222-1225.e10
Hauptverfasser:	Pieper, Kathrin, PhD, Rizzi, Marta, MD, PhD, Speletas, Matthaios, MD, PhD, Smulski, Cristian R., PhD, Sic, Heiko, PhD, Kraus, Helene, MSc, Salzer, Ulrich, MD, Fiala, Gina J., MSc, Schamel, Wolfgang W., PhD, Lougaris, Vassilios, MD, Plebani, Alessandro, MD, Hammarstrom, Lennart, MD, PhD, Recher, Mike, MD, Germenis, Anastasios E., MD, PhD, Grimbacher, Bodo, MD, Warnatz, Klaus, MD, PhD, Rolink, Antonius G., PhD, Schneider, Pascal, PhD, Notarangelo, Luigi D., MD, Eibel, Hermann, PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Allergy and Immunology B-Cell Activating Factor - metabolism Biological and medical sciences Common Variable Immunodeficiency - diagnosis Common Variable Immunodeficiency - genetics Common Variable Immunodeficiency - metabolism Deoxyribonucleic acid DNA Flow cytometry Fundamental and applied biological sciences. Psychology Fundamental immunology Genetic Predisposition to Disease Humans Immune system Immunodeficiencies Immunodeficiencies. Immunoglobulinopathies Immunopathology Ligands Lymphocytes Medical sciences Molecular weight Mutation Plasmids Polymorphism, Single Nucleotide Protein Multimerization Receptors, Interleukin-4 - chemistry Receptors, Interleukin-4 - genetics Receptors, Interleukin-4 - metabolism Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis Statistical analysis
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