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Journal of Clinical Immunology

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01-01-2016 | Letter to Editor

Monoallelic BAFFR P21R/H159Y Mutations and Familiar Primary Antibody Deficiencies

Authors: Vassilios Lougaris, Manuela Baronio, Daniele Moratto, Fabio Cardinale, Alessandro Plebani

Published in: Journal of Clinical Immunology | Issue 1/2016

Excerpt

To the Editor …

Durandy A, Kracker S, Fischer A. Primary antibody deficiencies. Nat Rev Immunol. 2013;13(7):519–33.PubMedCrossRef

Warnatz K, Salzer U, Rizzi M, Fischer B, Gutenberger S, Böhm J, Kienzler AK, Pan-Hammarström Q, Hammarström L, Rakhmanov M, Schlesier M, Grimbacher B, Peter HH, Eibel H. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc Natl Acad Sci U S A. 2009;106(33):13945–50.PubMedPubMedCentralCrossRef

Losi CG, Silini A, Fiorini C, Soresina A, Meini A, Ferrari S, Notarangelo LD, Lougaris V, Plebani A. Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency. J Clin Immunol. 2005;25(5):496–502.PubMedCrossRef

Pieper K, Rizzi M, Speletas M, Smulski CR, Sic H, Kraus H, Salzer U, Fiala GJ, Schamel WW, Lougaris V, Plebani A, Hammarstrom L, Recher M, Germenis AE, Grimbacher B, Warnatz K, Rolink AG, Schneider P, Notarangelo LD, Eibel H. A common single nucleotide polymorphism impairs B- cell activating factor receptor’s multimerization, contributing to common variable immunodeficiency. J Allergy Clin Immunol. 2014;133(4):1222–5.PubMedCrossRef

Germinaro M, Reynolds P, Knight V, Alam R. Association of B-cell activating receptor deficiency with the P21R polymorphism and common variable immunodeficiency. Ann Allergy Asthma Immunol. 2015;115(1):82–3.PubMedCrossRef

Title: Monoallelic BAFFR P21R/H159Y Mutations and Familiar Primary Antibody Deficiencies
Authors: Vassilios Lougaris
Manuela Baronio
Daniele Moratto
Fabio Cardinale
Alessandro Plebani
Publication date: 01-01-2016
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 1/2016
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-015-0217-6

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