Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.

doi:10.1172/JCI61014

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Article

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.

The Journal of clinical investigation - 1 Mar 2012

Gineau Laure, Cognet Céline, Kara Nihan, Lach Francis Peter, Dunne Jean, Veturi Uma, Picard Capucine, Trouillet Céline, Eidenschenk Céline, Aoufouchi Said, Alcaïs Alexandre, Smith Owen, Geissmann Frédéric, Feighery Conleth, Abel Laurent, Smogorzewska Agata, Stillman Bruce, Vivier Eric, Casanova Jean-Laurent, Jouanguy Emmanuelle

Abstract excerpt

Natural killer (NK) cells are circulating cytotoxic lymphocytes that exert potent and nonredundant antiviral activity and antitumoral activity in the mouse; however, their function in host defense in humans remains unclear. Here, we investigated 6 related patients with autosomal recessive growth retardation, adrenal insufficiency, and a selective NK cell deficiency characterized by a lack of the CD56(dim) NK...

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Identifiers

PMID: 22354167
DOI: 10.1172/JCI61014
PMCID: PMC3287233

Genes

MCM4
MCM2

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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