immunodeficiency 76
MONDO:0030898Mondo
Findings
No curated finding names immunodeficiency 76 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 · Death in childhood · Childhood 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.
- Decreased total lymphocyte countHPOHP:0001888
- 5 of 5 reported patients
- Decreased total T cell countHPOHP:0005403
- 5 of 5 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 5 of 5 reported patients
- Growth delayHPOHP:0001510
- 3 of 5 reported patients
- LymphadenopathyHPOHP:0002716
- 3 of 5 reported patients
- SplenomegalyHPOHP:0001744
- 3 of 5 reported patients
- Chronic diarrheaHPOHP:0002028
- 2 of 5 reported patients
- Recurrent bronchiolitisHPOHP:0100501
- 2 of 5 reported patients
- B-cell lymphomaHPOHP:0012191
- 1 of 5 reported patients
- ColitisHPOHP:0002583
- 1 of 5 reported patients
- Decreased total B cell countHPOHP:0010976
- 1 of 5 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.
- FCHO1HGNC:29002
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: immunodeficiency 76
- Also called
- combined immunodeficiency due to FCHO1 deficiencyIMD76immunodeficiency due to FCHO1 deficiency