immunodeficiency 87 and autoimmunity
MONDO:0030457Mondo
Findings
No curated finding names immunodeficiency 87 and autoimmunity yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Fetal onset · Childhood onset
HPO, annotations 2026-09-02
Features
55 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.
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 4 of 4 reported patients
- Increased fecal calprotectin levelHPOHP:0034056
- 1 of 1 reported patient
- Recurrent bacterial infectionsHPOHP:0002718
- 2 of 2 reported patients
- Recurrent fungal infectionsHPOHP:0002841
- 2 of 2 reported patients
- Recurrent viral infectionsHPOHP:0004429
- 2 of 2 reported patients
- Inverted CD4:CD8 ratioHPOHP:0033222
- 3 of 4 reported patients
- Persistent EBV viremiaHPOHP:0020072
- 3 of 4 reported patients
- Growth delayHPOHP:0001510
- 2 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 3 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 3 reported patients
- Metabolic acidosisHPOHP:0001942
- 2 of 3 reported patients
- Small for gestational ageHPOHP:0001518
- 2 of 3 reported patients
Show the remaining 43
- AnasarcaHPOHP:0012050
- 1 of 3 reported patients
- Anticardiolipin IgG antibody positivityHPOHP:0020136
- 1 of 3 reported patients
- AscitesHPOHP:0001541
- 1 of 3 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 3 reported patients
- Atrioventricular canal defectHPOHP:0006695
- 1 of 3 reported patients
- Atrophic gastritisHPOHP:0002582
- 1 of 3 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.
- DEF6HGNC:2760
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: immunodeficiency 87 and autoimmunity
- Also called
- IMD87immunodeficiency due to DEF6 deficiency