/inherited susceptibility to mycobacterial diseases

/Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Rare Disease

MONDO:0013956

Also Known As

MSMD due to partial STAT1 deficiencyMSMD due to partial signal transducer and activator of transcription 1 deficiencyMendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiencySTAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiencyautosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1immunodeficiency type 31AIMD31AStat1 deficiency, autosomal dominantimmunodeficiency 31Aimmunodeficiency 31A, Mycobacteriosis, autosomal dominant

Definition

A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

STAT1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:614892 ↗

Orphanet

Orphanet:319595 ↗

Related Diseases

immunodeficiency 27A

MONDO:0008856

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

MONDO:0013954

Rare

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

MONDO:0013955

Rare

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

MONDO:0013957

Rare

autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

MONDO:0014429

Rare

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

MONDO:0014502

Rare

← Back to All Diseases