immunodeficiency 85 and autoimmunity
MONDO:0030428Mondo
Findings
No curated finding names immunodeficiency 85 and autoimmunity yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
21 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.
- Chronic diarrheaHPOHP:0002028
- 2 of 2 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 2 of 2 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 1 reported patient
- Decreased circulating IgM concentrationHPOHP:0002850
- 2 of 2 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 2 of 2 reported patients
- Growth delayHPOHP:0001510
- 2 of 2 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 2 of 2 reported patients
- Reduced total natural killer cell countHPOHP:0040218
- 2 of 2 reported patients
- VomitingHPOHP:0002013
- 2 of 2 reported patients
- Decreased circulating IgE concentrationHPOHP:0005479
- 1 of 2 reported patients
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 1 of 2 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 2 reported patients
Show the remaining 9
- Decreased total T cell countHPOHP:0005403
- 1 of 2 reported patients
- ErythrodermaHPOHP:0001019
- 1 of 2 reported patients
- Failure to thrive in infancyHPOHP:0001531
- 1 of 2 reported patients
- OligoarthritisHPOHP:0040313
- 1 of 2 reported patients
- Persistent EBV viremiaHPOHP:0020072
- 1 of 2 reported patients
- Pulmonary fibrosisHPOHP:0002206
- 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.
- TOM1HGNC:11982
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency 85 and autoimmunity
- Also called
- IMD85