immunodeficiency 88
Findings
No curated finding names immunodeficiency 88 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines.
Definition from the Mondo Disease Ontology (MONDO:0030483), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
3 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.
- AsthmaHPOHP:0002099
- 1 of 1 reported patient
- BCGosisHPOHP:0020087
- 1 of 1 reported patient · Infantile onset
- Increased total eosinophil countHPOHP:0001880
- 1 of 1 reported patient
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.
- TBX21HGNC:11599
- Moderate · LiferaOmics · Autosomal recessive · 2026
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: immunodeficiency 88
- Also called
- IMD88Mendelian susceptibility to mycobacterial diseases due to TBX21 deficiency