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

Gineau, Laure; Cognet, Céline; Kara, Nihan; P. Lach, Francis; Dunne, Jean; Veturi, Uma; Pïcard, Capucine; Trouillet, Céline; Eidenschenk, Céline; Aoufouchi, Saïd; Alcaïs, Alexandre; Smith, Owen; Geissmann, Frédéric; Feighery, Conleth; Abel, Laurent; Smogorzewska, Agata; Stillman, Bruce; Vivier, Éric; Casanova, Jean‐Laurent; Jouanguy, Emmanuelle

doi:10.1172/jci61014

Public

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

Published in Journal of Clinical Investigation • Feb 22, 2012

Authors:

Laure Gineau

Céline Cognet

Nihan Kara

Abstract

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 ret...

Subject

Biology

Frameshift mutation

Phenotype

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