Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients.

Adenosine Deaminase / deficiency Adolescent Adult Agammaglobulinemia / enzymology B-Lymphocytes / enzymology Case-Control Studies Cell Differentiation Cell Proliferation Child Child, Preschool Female Humans Immunologic Memory Immunophenotyping In Vitro Techniques Infant Infant, Newborn Intercellular Signaling Peptides and Proteins / deficiency Interleukins / biosynthesis Lymphocyte Activation Male Mutation Severe Combined Immunodeficiency / enzymology T Follicular Helper Cells / immunology

Adenosine deaminase 2 B cell Follicular helper T cells Hypogammaglobulinemia Immunodeficiency

Journal

European journal of immunology

ISSN: 1521-4141

Titre abrégé: Eur J Immunol

Pays: Germany

ID NLM: 1273201

Informations de publication

Date de publication:
01 2021

Historique:

received: 08 06 2020

revised: 29 06 2020

pubmed: 25 7 2020

medline: 23 4 2021

entrez: 25 7 2020

Statut: ppublish

Résumé

Adenosine deaminase 2 deficiency (DADA2) is an autoinflammatory disease characterized by inflammatory vasculopathy, early strokes associated often with hypogammaglobulinemia. Pure red cell aplasia, thrombocytopenia, and neutropenia have been reported. The defect is due to biallelic loss of function of ADA2 gene, coding for a protein known to regulate the catabolism of extracellular adenosine. We therefore investigated immune phenotype and B- and T-cell responses in 14 DADA2 patients to address if ADA2 mutation affects B- and T-cell function. Here, we show a significant decrease in memory B cells, in particular class switch memory, and an expansion of CD21

Identifiants

DOI: 10.1002/eji.202048549 PMID: 32707604

pubmed: 32707604

doi: 10.1002/eji.202048549

doi:

Substances chimiques

Intercellular Signaling Peptides and Proteins 0

Interleukins 0

ADA2 protein, human EC 3.5.4.4

Adenosine Deaminase EC 3.5.4.4

interleukin-21 MKM3CA6LT1

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

Pagination

206-219

Subventions

Organisme : Ministero della Salute

Informations de copyright

Références

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