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

Menno C. van Zelm; Ismail Reisli

doi:10.1007/978-3-319-91785-6_7

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

Menno C. van Zelm, Ismail Reisli

Immunology Alfred Hospital

Research output: Chapter in Book/Report/Conference proceeding › Chapter (Book) › Other › peer-review

2 Citations (Scopus)

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.

Original language	English
Title of host publication	Humoral Primary Immunodeficiencies
Editors	Mario Milco D'Elios, Marta Rizzi
Place of Publication	Cham Switzerland
Publisher	Springer
Chapter	7
Pages	83-95
Number of pages	13
ISBN (Electronic)	9783319917856
ISBN (Print)	9783319917849
DOIs	https://doi.org/10.1007/978-3-319-91785-6_7
Publication status	Published - 2019

Publication series

Name	Rare Diseases of the Immune System
Publisher	Springer
ISSN (Print)	2282-6505
ISSN (Electronic)	2283-6403

Keywords

Autoreactivity
B cell
B-cell antigen receptor
CD19
CD81
Primary antibody deficiency
Vaccination responses

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1007/978-3-319-91785-6_7

Cite this

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title = "CD19 Deficiency due to Genetic Defects in the CD19 and CD81 Genes",

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.",

keywords = "Autoreactivity, B cell, B-cell antigen receptor, CD19, CD81, Primary antibody deficiency, Vaccination responses",

author = "{van Zelm}, {Menno C.} and Ismail Reisli",

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AU - Reisli, Ismail

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AB - 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.

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KW - CD81

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KW - Vaccination responses

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