Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Findings
No curated finding names Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections.
Definition from the Mondo Disease Ontology (MONDO:0014502), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
11 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.
- Basal ganglia calcificationHPOHP:0002135
- 3 of 3 reported patients
- BCGitisHPOHP:0020086
- 3 of 3 reported patients
- LymphadenopathyHPOHP:0002716
- 2 of 3 reported patients
- Recurrent mycobacterial infectionsHPOHP:0011274
- 2 of 3 reported patients
- SeizureHPOHP:0001250
- 3 of 6 reported patients
- Axillary lymphadenopathyHPOHP:0034752
- 1 of 3 reported patients
- Inguinal lymphadenopathyHPOHP:0034751
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.
- ISG15HGNC:4053
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- Also called
- autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiencyMSMD due to complete ISG15 deficiency