Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Findings
No curated finding names Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG).
Definition from the Mondo Disease Ontology (MONDO:0013957), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BCGitisHPOHP:0020086
- 2 of 2 reported patients
- GranulomaHPOHP:0032252
- 2 of 2 reported patients
- LymphadenopathyHPOHP:0002716
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Abnormality of immune system physiologyHPOHP:0010978
- Very frequent (80% to 99% of cases)
- FeverHPOHP:0001945
- 1 of 2 reported patients
- Very frequent (80% to 99% of cases)
- LymphadenitisHPOHP:0002840
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IRF8HGNC:5358
- Strong · Illumina · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
Other names
6 names
Resolves to: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
- Also called
- autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8immunodeficiency type 32AIRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiencyMendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiencyMSMD due to partial interferon regulatory factor 8 deficiencyMSMD due to partial IRF8 deficiency