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

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  • First Online:
Encyclopedia of Medical Immunology

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Definition

An immunodeficiency defined by deleterious mutations and/or deletions in CD19 or CD81 encoding CD19 and CD81 B cell surface proteins.

Prevalence

To date, 10 patients have been identified with CD19 deficiency due to mutations in CD19 and 1 patient due to a deleterious mutation in CD81.

Physiology of CD19 and the Complex Members CD21, CD81, and CD225

B-cell lineage commitment from hematopoietic stem cells is a stepwise process and critically depends on several transcription factors, including E2A, EBF, and Pax5 (Lin and Grosschedl 1995; Urbanek et al. 1994; Zhuang et al. 1994). In addition to functioning as B-cell commitment factor, Pax5 directly regulates CD19 gene expression (Kozmik et al. 1992). As a result, CD19 membrane expression – first described in 1983 (Nadler et al. 1983) – is a direct marker of committed B cells and is reflective of the expression of Pax5 (Fig. 1). CD19 is expressed prior to surface immunoglobulin (Ig) and two previously characterized markers that...

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Author information

Authors and Affiliations

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

    Menno C. van Zelm

  2. Department of Respiratory Medicine, The Alfred Hospital, Melbourne, VIC, Australia

    Menno C. van Zelm

  3. The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, VIC, Australia

    Menno C. van Zelm

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

    Ismail Reisli

Authors
  1. Menno C. van Zelm
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  2. Ismail Reisli
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Corresponding author

Correspondence to Menno C. van Zelm .

Editor information

Editors and Affiliations

  1. Molecular Biology, Monash University Dept. Biochemistry &, Clayton, VIC, Australia

    Ian MacKay

  2. Autoimmune Disease Research Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Noel R. Rose

Section Editor information

  1. Center for Chronic Immunodeficiency, University Medical Center and University of Freiburg, Freiburg, Germany

    Klaus Warnatz

  2. UMC Utrecht, Utrecht, Netherlands

    Joris M. van Montfrans

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van Zelm, M.C., Reisli, I. (2018). CD19 Deficiency Due to Genetic Defects in the CD19 and CD81 Genes. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_24-1

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  • DOI: https://doi.org/10.1007/978-1-4614-9209-2_24-1

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  • Print ISBN: 978-1-4614-9209-2

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