Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.

Journal of medical genetics - 1 Feb 2007

Bustamante Jacinta, Picard Capucine, Fieschi Claire, Filipe-Santos Orchidée, Feinberg Jacqueline, Perronne Christian, Chapgier Ariane, de Beaucoudrey Ludovic, Vogt Guillaume, Sanlaville Damien, Lemainque Arnaud, Emile Jean-François, Abel Laurent, Casanova Jean-Laurent

Abstract excerpt

BACKGROUND: Mendelian susceptibility to mycobacterial disease (MSMD) is associated with infection caused by weakly virulent mycobacteria in otherwise healthy people. Causal germline mutations in five autosomal genes (IFNGR1, IFNGR2, STAT1, IL12RB1, IL12B) and one X-linked (NEMO) gene have been described. The gene products are physiologically related, as they are involved in interleukin 12/23-dependent, interferon...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to BCG Vaccine
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Granuloma

Share to Lymph Nodes

Share to Lymphatic Diseases

Share to Mycobacterium Infections

Share to Recurrence

Share to Tuberculosis

Source

Open in PubMed Open full text

Identifiers

PMID: 17293536
DOI: 10.1136/jmg.2006.043406
PMCID: PMC2598058

Genes

IFNGR1
IFNGR2
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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.PMID 17293536Read ↗

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.Semantic proximity Read ↗

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

The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.Semantic proximity Read ↗

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.Semantic proximity Read ↗

[Genetic susceptibility to mycobacterial disease: Mendelian disorders of the interleukin-12 -interferon-gamma axis].Semantic proximity Read ↗

Mendelian susceptibility to mycobacterial disease: 2014–2018 updateSemantic proximity Read ↗

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.Semantic proximity Read ↗

Mendelian susceptibility to mycobacterial disease: recent discoveries.Semantic proximity Read ↗

Inherited disorders of IL-12- and IFNgamma-mediated immunity: a molecular genetics update.Semantic proximity Read ↗

Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella.Semantic proximity Read ↗

Mendelian susceptibility to mycobacterial infection in man.Semantic proximity Read ↗

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.