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CD19 Deficiency due to Genetic Defects in the CD19 and CD81 Genes

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Humoral Primary Immunodeficiencies

Part of the book series: Rare Diseases of the Immune System ((RDIS))

Abstract

CD19 is a transmembrane protein specifically expressed on B cells and acts together with CD21, CD81, and CD225 to reduce the threshold for B-cell antigen receptor (BCR) signaling. To date, 11 patients with childhood-onset hypogammaglobulinemia have been identified with CD19 deficiency due to mutations in the CD19 or CD81 genes. The patients have circulating B cells that lack CD19 expression and are impaired in BCR-induced signal transduction. In addition to recurrent respiratory infections, several patients suffer from autoimmunity and IgA nephropathy. These non-infectious complications might arise from altered signal transduction thresholds. Although rare, genetic defects in CD19 or CD81 should be considered in patients with childhood onset of autosomal recessive antibody deficiency.

As part of: “Humoral Primary Immunodeficiencies” by Springer press, edited by Mario D’Elios and Martha Rizzi

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Author information

Authors and Affiliations

  1. Department of Immunology and Pathology, Central Clinical School, Monash University and The Alfred Hospital, Melbourne, VIC, Australia

    Menno C. van Zelm

  2. Division of Pediatric Allergy and Immunology, Department of Pediatrics, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey

    Ismail Reisli

Authors
  1. Menno C. van Zelm
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  2. Ismail Reisli
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Correspondence to Menno C. van Zelm .

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Editors and Affiliations

  1. Careggi Hospital, Department of Clinical and Experimental Medicine, University of Florence, Firenze, Italy

    Mario Milco D'Elios

  2. University Medical Centre Freiburg, Department of Rheumatology and Clinical Immunology and Center for Chronic Immunodeficiency, Freiburg, Germany

    Marta Rizzi

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van Zelm, M.C., Reisli, I. (2019). CD19 Deficiency due to Genetic Defects in the CD19 and CD81 Genes. In: D'Elios, M., Rizzi, M. (eds) Humoral Primary Immunodeficiencies. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-319-91785-6_7

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  • DOI: https://doi.org/10.1007/978-3-319-91785-6_7

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-91784-9

  • Online ISBN: 978-3-319-91785-6

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