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01.05.2014 | Astute Clinician Report

Autosomal Recessive Agammaglobulinemia: The Third Case of Igβ Deficiency Due to a Novel Non-sense Mutation

verfasst von: Vassilios Lougaris, Massimiliano Vitali, Manuela Baronio, Daniele Moratto, Giacomo Tampella, Augusto Biasini, Raffaele Badolato, Alessandro Plebani

Erschienen in: Journal of Clinical Immunology | Ausgabe 4/2014

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Abstract

This study describes the third case worldwide of autosomal recessive agammaglobulinemia due to a novel non-sense mutation in Igβ presenting with neutropenia, ecthyma and mild respiratory infections.

Karasuyama H, Nakamura T, Nagata K, Kuramochi T, Kitamura F, Kuida K. The roles of pre B cell receptor in early B cell development and its signal transduction. Immunol Cell Biol. 1997;75:209–16.PubMedCrossRef

Benschop RJ, Cambier JC. B cell development: signal transduction by antigen receptors and their surrogates. Curr Opin Immunol. 1999;11:143–51.PubMedCrossRef

Melchers F, ten Boekel E, Seidl T, Kong XC, Yamagami T, Onishi K, et al. Repertoire selection by pre-B-cell receptors and B-cell receptors, and genetic control of B-cell development from immature to mature B cells. Immunol Rev. 2000;175:33–46.PubMedCrossRef

Conley ME, Broides A, Hernandez-Trujillo V, Howard V, Kanegane H, Miyawaki T, et al. Genetic analysis of patients with defects in early B-cell development. Immunol Rev. 2005;203:216–34.PubMedCrossRef

Conley ME, Dobbs AK, Farmer DM, Kilic S, Paris K, Grigoriadou S, et al. Primary B cell immunodeficiencies: comparisons and contrasts. Annu Rev Immunol. 2009;27:199–227.PubMedCrossRef

Yel L, Minegishi Y, Coustan-Smith E, Buckley RH, Trubel H, Pachman LM, et al. RohrerJ, Conley ME. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. N Engl J Med. 1996;335:1486–93.PubMedCrossRef

Ferrari S, Zuntini R, Lougaris V, Soresina A, Sourkova V, Fiorini M, et al. Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia. Genes Immun. 2007;8:325–33.PubMedCrossRef

Lopez Granados E, Porpiglia AS, Hogan MB, Matamoros N, Krasovec S, Pignata C, et al. Clinical and molecular analysis of patients with defects in micro heavy chain. J Clin Invest. 2002;110:1029–35.PubMedCentralPubMedCrossRef

Minegishi Y, Coustan-Smith E, Wang YH, Cooper MD, Campana D, Conely ME. Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. J Exp Med. 1998;187:71–7.PubMedCentralPubMedCrossRef

10.

Minegishi Y, Coustan-Smith E, Rapalus L, Ersoy F, Campana D, Conely ME. Mutations in Igalpha (CD79a) result in a complete block in B-cell development. J Clin Invest. 1999;104:1115–21.PubMedCentralPubMedCrossRef

11.

Wang Y, Kanegane H, Sanal O, Tezcan I, Ersoy F, Futatani T, et al. Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia. Am J Med Genet. 2002;108:333–6.PubMedCrossRef

12.

Dobbs AK, Yang T, Farmer D, Kager L, Parolini O, Conley ME. A hypomorphic mutations in Igβ (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development. J Immunol. 2007;179:2055–9.PubMedCrossRef

13.

Ferrari S, Lougaris V, Caraffi S, Zuntini R, Yang J, Soresina A, et al. Mutation of the Igβ gene causes agammaglobulinemia in man. J Exp Med. 2007;204:2047–51.PubMedCentralPubMedCrossRef

14.

Khalili A, Plebani A, Vitali M, Abolhassani H, Lougaris V, Mirminachi B, et al. Autosomal recessive agammaglobulinemia: a novel non-sense mutation in CD79a. J Clin Immunol. 2014;34(2):138–41.

15.

Minegishi Y, Rohrer J, Coustan-Smith E, Lederman HM, Pappu R, Campana D, et al. An essential role for BLNK in human B cell development. Science. 1999;286(5446):1954–7.PubMedCrossRef

16.

Conley ME, Dobbs AK, Quintana AM, Bosompem A, Wang YD, Coustan-Smith E, et al. Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K. J Exp Med. 2012;209(3):463–70.PubMedCentralPubMedCrossRef

17.

Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, et al. Cunningham-Rundles C, Ochs HD.X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore). 2006;85(4):193–202.CrossRef

18.

Cham B, Bonilla MA, Winkelstein J. Neutropenia associated with primary immunodeficiency syndromes. Semin Hematol. 2002;2(39):107–12.CrossRef

19.

Rezaei N, Farhoudi A, Pourpak Z, Aghamohammadi A, Moin M, Gharagozlou M, et al. Neutropenia in patients with primary antibody deficiency disorders. Iran J Allergy Asthma Immunol. 2004;3(2):77–81.PubMed

Titel: Autosomal Recessive Agammaglobulinemia: The Third Case of Igβ Deficiency Due to a Novel Non-sense Mutation
verfasst von: Vassilios Lougaris
Massimiliano Vitali
Manuela Baronio
Daniele Moratto
Giacomo Tampella
Augusto Biasini
Raffaele Badolato
Alessandro Plebani
Publikationsdatum: 01.05.2014
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 4/2014
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-014-0033-4

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Autosomal Recessive Agammaglobulinemia: The Third Case of Igβ Deficiency Due to a Novel Non-sense Mutation

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