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Agammaglobulinemia

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Primary and Secondary Immunodeficiency

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Abstract

Agammaglobulinemia is a type of primary B-cell immunodeficiency. According to the European Society for Immunodeficiencies (ESID), the diagnostic criteria for agammaglobulinemia include the onset of recurrent infections before 5 years of age, IgG levels <500 mg/dL and IgA and IgM levels <2 standard deviations of normal levels, and <2% of circulating B cells. The most common form, X-linked agammaglobulinemia (XLA), accounts for approximately 85% of patients with congenital agammaglobulinemia. Approximately half of the remaining patients have mutations encoding components of the pre-B-cell receptor (pre-BCR) or BCR, including μ heavy chain (IGHM); the signal transduction molecules, Igα (CD79A) and Igβ (CD79B); and λ5 (IGLL1), which forms the surrogate light chain with Vpre-B. A small number of patients with defects in B-cell linker protein (BLNK), a scaffold protein that assembles signal transduction molecules activated by cross-linking of the BCR, have been reported. Regardless of the specific diagnosis, all patients with antibody deficiencies are treated with gamma globulin replacement.

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Authors and Affiliations

  1. Department of Medical Education, Nicklaus Children’s Hospital, Miami, FL, USA

    Camile Ortega

  2. Allergy and Immunology Care Center of South Florida, Nicklaus Children’s Hospital, Miami Lakes, FL, USA

    Vivian Hernandez-Trujillo

Authors
  1. Camile Ortega
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  2. Vivian Hernandez-Trujillo
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Correspondence to Vivian Hernandez-Trujillo .

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Editors and Affiliations

  1. College of Medicine, University of Cincinnati, Cincinnati, OH, USA

    Jonathan A. Bernstein

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Ortega, C., Hernandez-Trujillo, V. (2021). Agammaglobulinemia. In: Bernstein, J.A. (eds) Primary and Secondary Immunodeficiency. Springer, Cham. https://doi.org/10.1007/978-3-030-57157-3_3

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