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Article

Circulating Follicular Helper and Follicular Regulatory T Cells Are Severely Compromised in Human CD40 Deficiency: A Case Report.

Frontiers in immunology - 1 Jan 2018

Cicalese Maria Pia, Gerosa Jolanda, Baronio Manuela, Montin Davide, Licciardi Francesco, Soresina Annarosa, Dellepiane Rosa Maria, Miano Maurizio, Baselli Lucia Augusta, Volpi Stefano, Dufour Carlo, Plebani Alessandro, Aiuti Alessandro, Lougaris Vassilios, Fousteri Georgia

Abstract excerpt

Mutations in genes that control class switch recombination and somatic hypermutation during the germinal center (GC) response can cause diverse immune dysfunctions. In particular, mutations in CD40LG, CD40, AICDA, or UNG cause hyper-IgM (HIGM) syndrome, a heterogeneous group of primary immunodeficiencies. Follicular helper (Tfh) and follicular regulatory (Tfr) T cells play a key role in the formation and...

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Identifiers

PMID: 30131802
DOI: 10.3389/fimmu.2018.01761
PMCID: PMC6090258

Genes

AICDA
UNG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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