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Article

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

Journal of clinical immunology - 1 Nov 2016

Rechavi Erez, Lev Atar, Eyal Eran, Barel Ortal, Kol Nitzan, Barhom Sarit Farage, Pode-Shakked Ben, Anikster Yair, Somech Raz, Simon Amos J

Abstract excerpt

PURPOSE: Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is an extremely rare autosomal recessive disease. The immune phenotype is characterized by hypogammaglobulinemia in the presence of B cells. T cell lymphopenia also develops in some patients. We sought to further investigate the immune defect in an ICF patient with a novel missense mutation in DNMT3B and a severe phenotype....

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Identifiers

PMID: 27734333
DOI: 10.1007/s10875-016-0340-z

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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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