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Article

Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.

Journal of clinical immunology - 1 Feb 2016

Sterlin Delphine, Velasco Guillaume, Moshous Despina, Touzot Fabien, Mahlaoui Nizar, Fischer Alain, Suarez Felipe, Francastel Claire, Picard Capucine

Abstract excerpt

PURPOSE: Autosomal recessive deficiencies of DNMT3B or ZBTB24 account for two-thirds of cases of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). This primary immunodeficiency (PID) is characterized mainly by an antibody deficiency, facial abnormalities and centromeric instability. We analyzed the national cohort of patients with ICF syndrome with the aim of providing a more...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26851945
DOI: 10.1007/s10875-016-0240-2

Genes

ZBTB24

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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