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Article

IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.

Human mutation - 1 Oct 2017

van de Vosse Esther, van Dissel Jaap T

Abstract excerpt

IFN-γ signaling is essential for the innate immune defense against mycobacterial infections. IFN-γ signals through the IFN-γ receptor, which consists of a tetramer of two IFN-γR1 chains in complex with two IFN-γR2 chains, where IFN-γR1 is the ligand-binding chain of the interferon-γ receptor and IFN-γR2 is the signal-transducing chain of the IFN-γ receptor. Germline mutations in the gene IFNGR1 encoding the...

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Source

Identifiers

PMID: 28744922
DOI: 10.1002/humu.23302

Genes

IFNGR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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