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

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

Seminars in immunology - 1 Dec 2006

Filipe-Santos Orchidée, Bustamante Jacinta, Chapgier Ariane, Vogt Guillaume, de Beaucoudrey Ludovic, Feinberg Jacqueline, Jouanguy Emmanuelle, Boisson-Dupuis Stéphanie, Fieschi Claire, Picard Capucine, Casanova Jean-Laurent

Abstract excerpt

Mendelian susceptibility to mycobacterial diseases confers predisposition to clinical disease caused by weakly virulent mycobacterial species in otherwise healthy individuals. Since 1996, disease-causing mutations have been found in five autosomal genes (IFNGR1, IFNGR2, STAT1, IL12B, IL12BR1) and one X-linked gene (NEMO). These genes display a high degree of allelic heterogeneity, defining at least 13 disorders....

Read the complete abstract on PubMed

Topics

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

Share to IFNGR1 gene
Share to STAT1 gene

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Diseases, Inborn

Share to Immunodeficiency and Autoimmune Disorders

Share to Interferon-gamma

Share to Interleukin-12

Share to Interleukin-23

Share to Mutation

Source

Identifiers

PMID: 16997570
DOI: 10.1016/j.smim.2006.07.010

Genes

IFNGR1
IFNGR2
STAT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.PMID 16997570Read ↗

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

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

Impaired interferon gamma-mediated immunity and susceptibility to mycobacterial infection in childhood.Semantic proximity Read ↗

Defects in the interferon-gamma and interleukin-12 pathways.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 disease: IFN-γ-driven immunity collapse underlies heterogeneous infections.Semantic proximity Read ↗

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

Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion.Semantic proximity Read ↗

Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-gamma-dependent signaling.Semantic proximity Read ↗

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense.Semantic proximity Read ↗

Inborn errors of human transcription factors governing IFN-γ antimycobacterial immunity.Semantic proximity Read ↗

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

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