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

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.

American journal of medical genetics. Part A - 1 Mar 2010

Prando Carolina, Boisson-Dupuis Stéphanie, Grant Audrey V, Kong Xiao-Fei, Bustamante Jacinta, Feinberg Jacqueline, Chapgier Ariane, Rose Yoann, Jannière Lucile, Rizzardi Elena, Zhang Qiuping, Shanahan Catherine M, Viollet Louis, Lyonnet Stanislas, Abel Laurent, Ruga Ezia Maria, Casanova Jean-Laurent

Abstract excerpt

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency associated with clinical disease caused by weakly virulent mycobacterial species. Interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic etiology of MSMD. We describe the clinical and genetic fe...

Read the complete abstract on PubMed

Topics

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

Share to Actinomycetales Infections
Share to Chromosomes, Human, Pair 6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Fathers

Share to Interferon gamma Receptor

Share to Mycobacterium Infections

Share to Receptors, Interferon

Share to Uniparental Disomy

Source

Open in PubMed Open full text

Identifiers

PMID: 20186794
DOI: 10.1002/ajmg.a.33291
PMCID: PMC2946788

Genes

IFNGR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20186794-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.PMID 20186794Read ↗

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

Disseminated Mycobacterium avium complex infection in a child with partial dominant interferon gamma receptor 1 deficiency in India.Semantic proximity Read ↗

Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency.Semantic proximity Read ↗

Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.Semantic proximity Read ↗

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

Disseminated Bacillus Calmette-Guérin Osteomyelitis in Twin Sisters Related to STAT1 Gene Deficiency.Semantic proximity Read ↗

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

New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomySemantic proximity Read ↗

Eight years of follow-up experience in children with mendelian susceptibility to mycobacterial disease and review of the literature.Semantic proximity Read ↗

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.Semantic proximity Read ↗

Mitchell-Riley Syndrome Due to a Novel Mutation in RFX6Semantic proximity Read ↗

[Multifocal infection due to Mycobacterium intracellulare: first case of interferon gamma receptor partial dominant deficiency in tropical French territory].Semantic proximity Read ↗

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