Details of Disease

General Information of Disease (ID: DISY5F50)

Disease Name Immunodeficiency 31B
Synonyms
immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive; IMD31B; Stat1 deficiency, autosomal recessive; susceptibility to viral and mycobacterial infections; immunodeficiency 31B; immunodeficiency type 31B; STAT1 deficiency
Disease Hierarchy
DISIYKJL: Hereditary predisposition to infections
DISY5F50: Immunodeficiency 31B
Disease Identifiers
MONDO ID
MONDO_0013427
UMLS CUI
C3151088
OMIM ID
613796
MedGen ID
462438
Orphanet ID
391311

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
STAT1 TTN7R6K moderate Biomarker [1]
STAT1 TTN7R6K Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP7B1 DE36TMY Strong Genetic Variation [3]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BICRA OTDTPGW0 Strong Genetic Variation [3]
FRMPD1 OTCC9A0E Strong Genetic Variation [4]
STAT1 OTLMBUZ6 Definitive Autosomal recessive [2]
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References

1 Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1.Oral Dis. 2019 Apr;25(3):684-692. doi: 10.1111/odi.12881. Epub 2018 Jun 8.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.PLoS One. 2011;6(12):e28632. doi: 10.1371/journal.pone.0028632. Epub 2011 Dec 12.
4 Novel genetic locus implicated for HIV-1 acquisition with putative regulatory links to HIV replication and infectivity: a genome-wide association study.PLoS One. 2015 Mar 18;10(3):e0118149. doi: 10.1371/journal.pone.0118149. eCollection 2015.