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

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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.

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Abbreviations

pre-BCR:

pre-B cell receptor complex

Igβ:

Immunoglobulin-associated beta

References

  1. 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.

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  3. 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.

    Article  CAS  PubMed  Google Scholar 

  4. 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.

    Article  CAS  PubMed  Google Scholar 

  5. 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.

    Article  CAS  PubMed  Google Scholar 

  6. 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.

    Article  CAS  PubMed  Google Scholar 

  7. 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.

    Article  CAS  PubMed  Google Scholar 

  8. 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.

    Article  PubMed Central  PubMed  Google Scholar 

  9. 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.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  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.

    Article  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  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.

    Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  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.

    Article  Google Scholar 

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

    Article  Google Scholar 

  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  Google Scholar 

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Funding

The research leading to these results has received funding from the European Community’s Seventh Framework Programme FP7/2007-2013 under grant agreement no 201549 (EURO-PADnet HEALTH-F2-2008-201549) and from the Italian Ministerial Grant GR-2010-2315762. The research leading to these results also received funding from the “Fondazione C. Golgi”, Brescia.

Conflict of interest

The authors declare no conflict of interest.

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Authors and Affiliations

  1. Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine “A. Nocivelli”, University of Brescia, Spedali Civili di Brescia, Brescia, Italy

    Vassilios Lougaris, Massimiliano Vitali, Manuela Baronio, Daniele Moratto, Giacomo Tampella, Raffaele Badolato & Alessandro Plebani

  2. Maternal-Infantile Department, Pediatrics Clinic, Cesena, Italy

    Augusto Biasini

Authors
  1. Vassilios Lougaris
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  2. Massimiliano Vitali
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  3. Manuela Baronio
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  4. Daniele Moratto
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  5. Giacomo Tampella
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  6. Augusto Biasini
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  7. Raffaele Badolato
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  8. Alessandro Plebani
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Corresponding author

Correspondence to Vassilios Lougaris.

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Lougaris, V., Vitali, M., Baronio, M. et al. Autosomal Recessive Agammaglobulinemia: The Third Case of Igβ Deficiency Due to a Novel Non-sense Mutation. J Clin Immunol 34, 425–427 (2014). https://doi.org/10.1007/s10875-014-0033-4

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  • DOI: https://doi.org/10.1007/s10875-014-0033-4

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