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Article

Defective B-cell-negative selection and terminal differentiation in the ICF syndrome.

Blood - 1 Apr 2004

Blanco-Betancourt Carla E, Moncla Anne, Milili Michèle, Jiang Yun Liang, Viegas-Péquignot Evani M, Roquelaure Bertrand, Thuret Isabelle, Schiff Claudine

Abstract excerpt

Immunodeficiency, centromeric region instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disease. Mutations in the DNA methyltransferase 3B (DNMT3B) gene are responsible for most ICF cases reported. We investigated the B-cell defects associated with agammaglobulinemia i...

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Share to Chromosomal Instability
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14645008
DOI: 10.1182/blood-2003-08-2632

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14645008-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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