Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Serum Immunoglobulin Isotypes with Decreased or Absent B Cells, Reduction of

  • Vassilios Lougaris
  • Alessandro PlebaniEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_12-1


Reduction of all serum immunoglobulin isotypes (IgM, IgG, and IgA) with decreased or absent B cells is an immunodeficiency syndrome that may result from several genetic defects, which might be inherited either X-linked (Bruton’s agammaglobulinemia) or autosomal recessive (i.e., absent mu heavy chain, Ig-alpha deficiency, Ig-beta deficiency).


Immunoglobulins are produced by B lymphocytes and are divided in the following isotypes: IgG, IgA, IgM, and IgE. The first steps in B cell maturation take place in the bone marrow and are characterized by the sequential activation of diverse genes and the expression of diverse proteins involved in cell differentiation (Espeli et al. 2006; Rudin and Thompson 1998; Bartholdy and Matthias 2004). These events lead to the expression of the pre-B-cell receptor, which defines the passage from the pro-B to the pre-B step of early B-cell development. B-cell development in the bone marrow produces antigen-naive B cells that express...

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  1. Abolhassani H, Hirbod-Mobarakeh A, Shahinpour S, Panahi M, Mohammadinejad P, Mirminachi B, Shakari MS, Samavat B, Aghamohammadi A. Mortality and morbidity in patients with X-linked agammaglobulinaemia. Allergol Immunopathol (Madr). 2015;43(1):62–6.  https://doi.org/10.1016/j.aller.2013.09.013.CrossRefGoogle Scholar
  2. Bartholdy B, Matthias P. Transcriptional control of B cell development and function. Gene. 2004;327:1–23.PubMedCrossRefGoogle Scholar
  3. Espeli M, Rossi B, Mancini SJ, Roche P, Gauthier L, Schiff C. Initiation of pre-B cell receptor signaling: common and distinctive features in human and mouse. Semin Immunol. 2006;18:56–66.PubMedCrossRefGoogle Scholar
  4. Gaspar HB, Conley ME. Early B cell defects. Clin Exp Immunol. 2000;119(3):383–9. ReviewPubMedPubMedCentralCrossRefGoogle Scholar
  5. Plebani A, Soresina A, Rondelli R, Amato GM, Azzari C, Cardinale F, Cazzola G, Consolini R, De Mattia D, Dell’Erba G, Duse M, Fiorini M, Martino S, Martire B, Masi M, Monafo V, Moschese V, Notarangelo LD, Orlandi P, Panei P, Pession A, Pietrogrande MC, Pignata C, Quinti I, Ragno V, Rossi P, Sciotto A. Stabile a; Italian pediatric group for XLA-AIEOP. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin Immunol. 2002;104(3):221–30.PubMedCrossRefGoogle Scholar
  6. Rudin CM, Thompson CB. B-cell development and maturation. Semin Oncol. 1998;25:435–46.PubMedGoogle Scholar
  7. Shillitoe B, Gennery A. X-linked Agammaglobulinaemia: outcomes in the modern era. Clin Immunol. 2017;183:54–62.  https://doi.org/10.1016/j.clim.2017.07.008.PubMedCrossRefGoogle Scholar
  8. Stubbs A, Bangs C, Shillitoe B, Edgar JD, Burns SO, Thomas M, Alachkar H, Buckland M, McDermott E, Arumugakani G, Jolles MS, Herriot R, Arkwright PD. Bronchiectasis and deteriorating lung function in agammaglobulinaemia despite immunoglobulin replacement therapy. Clin Exp Immunol. 2018; 191(2):212–9.  https://doi.org/10.1111/cei.13068.PubMedCrossRefGoogle Scholar

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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental SciencesUniversity of Brescia and ASST-Spedali Civili of BresciaBresciaItaly

Section editors and affiliations

  • Klaus Warnatz
    • 1
  • Joris M. van Montfrans
    • 2
  1. 1.Center for Chronic ImmunodeficiencyUniversity Medical Center and University of FreiburgFreiburgGermany
  2. 2.UMC UtrechtUtrechtNetherlands