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Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency

MedGen UID:
1842482
Concept ID:
C5679889
Finding
Synonym: Autosomal dominant MSMD due to a partial deficiency
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Orphanet: ORPHA319543

Definition

A group of variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Professional guidelines

PubMed

Holland SM
Microbes Infect 2000 Nov;2(13):1579-90. doi: 10.1016/s1286-4579(00)01314-9. PMID: 11113377

Recent clinical studies

Etiology

Sharma VK, Pai G, Deswarte C, Lodha R, Singh S, Kang LW, Yin CC, Casanova JL, Bustamante J, Kabra SK
J Clin Immunol 2015 Jul;35(5):459-62. Epub 2015 Jun 9 doi: 10.1007/s10875-015-0173-1. PMID: 26054576

Diagnosis

Sharma VK, Pai G, Deswarte C, Lodha R, Singh S, Kang LW, Yin CC, Casanova JL, Bustamante J, Kabra SK
J Clin Immunol 2015 Jul;35(5):459-62. Epub 2015 Jun 9 doi: 10.1007/s10875-015-0173-1. PMID: 26054576
Hirata O, Okada S, Tsumura M, Kagawa R, Miki M, Kawaguchi H, Nakamura K, Boisson-Dupuis S, Casanova JL, Takihara Y, Kobayashi M
Haematologica 2013 Oct;98(10):1641-9. Epub 2013 Apr 12 doi: 10.3324/haematol.2013.083741. PMID: 23585529Free PMC Article

Therapy

Sharma VK, Pai G, Deswarte C, Lodha R, Singh S, Kang LW, Yin CC, Casanova JL, Bustamante J, Kabra SK
J Clin Immunol 2015 Jul;35(5):459-62. Epub 2015 Jun 9 doi: 10.1007/s10875-015-0173-1. PMID: 26054576
Holland SM
Microbes Infect 2000 Nov;2(13):1579-90. doi: 10.1016/s1286-4579(00)01314-9. PMID: 11113377

Clinical prediction guides

Dotta L, Vairo D, Giacomelli M, Moratto D, Tamassia N, Vermi W, Lonardi S, Casanova JL, Bustamante J, Giliani S, Badolato R
Front Immunol 2020;11:1161. Epub 2020 Jun 26 doi: 10.3389/fimmu.2020.01161. PMID: 32676075Free PMC Article

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