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Article

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Seminars in immunology - 1 Dec 2014

Bustamante Jacinta, Boisson-Dupuis Stéphanie, Abel Laurent, Casanova Jean-Laurent

Abstract excerpt

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria, in otherwise healthy individuals with no overt abnormalities in routine hematological and immunological tests. MSMD designation does not recapitulate all the clinical features, as patients are...

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Source

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Identifiers

PMID: 25453225
DOI: 10.1016/j.smim.2014.09.008
PMCID: PMC4357480

Genes

CYBB
IFNGR1
IFNGR2
ISG15
STAT1

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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