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Article

A human case of GIMAP6 deficiency: a novel primary immune deficiency.

European journal of human genetics : EJHG - 1 Apr 2021

Shadur Bella, Asherie Nathalie, Kfir-Erenfeld Shlomit, Dubnikov Taly, NaserEddin Adeeb, Schejter Yael Dinur, Elpeleg Orly, Mor-Shaked Hagar, Stepensky Polina

Abstract excerpt

The GTPase of immunity-associated proteins (GIMAPs) are a family of genes believed to contribute to lymphocyte development, signaling, and apoptosis, thus playing an important role in immune system homeostasis. While models of gene derangement have been described in both mice and immortalized cell lines, human examples of these diseases remain exceptionally rare. In this manuscript we describe the first...

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Identifiers

PMID: 33328581
DOI: 10.1038/s41431-020-00773-x
PMCID: PMC7739214

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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