Encyclopedia of Medical Immunology

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

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

  • Menno C. van ZelmEmail author
  • Ismail Reisli
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_24-1


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


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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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Immunology and PathologyCentral Clinical School, Monash UniversityMelbourneAustralia
  2. 2.Department of Respiratory MedicineThe Alfred HospitalMelbourneAustralia
  3. 3.The Jeffrey Modell Diagnostic and Research Centre for Primary ImmunodeficienciesMelbourneAustralia
  4. 4.Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Department of PediatricsNecmettin Erbakan UniversityKonyaTurkey

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