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Article

Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.

Critical reviews in clinical laboratory sciences - 1 May 2018

Esteve-Solé Ana, Sologuren Ithaisa, Martínez-Saavedra María Teresa, Deyà-Martínez Àngela, Oleaga-Quintas Carmen, Martinez-Barricarte Rubén, Martin-Nalda Andrea, Juan Manel, Casanova Jean-Laurent, Rodriguez-Gallego Carlos, Alsina Laia, Bustamante Jacinta

Abstract excerpt

The integrity of the interferon (IFN)-γ circuit is necessary to mount an effective immune response to intra-macrophagic pathogens, especially Mycobacteria. Inherited monogenic defects in this circuit that disrupt the production of, or response to, IFN-γ underlie a primary immunodeficiency known as Mendelian susceptibility to mycobacterial disease (MSMD). Otherwise healthy patients display a selective...

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Identifiers

PMID: 29502462
DOI: 10.1080/10408363.2018.1444580
PMCID: PMC5880527

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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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