DOCK2 deficiency
MONDO:0014637Mondo
Findings
No curated finding names DOCK2 deficiency 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 · Neonatal onset
HPO, annotations 2026-09-02
Features
22 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 T cell countHPOHP:0005403
- 3 of 5 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 2 of 5 reported patients
- Chronic diarrheaHPOHP:0002028
- 1 of 5 reported patients
- Decreased antigen-specific T cell proliferationHPOHP:0031402
- 1 of 5 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 5 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 5 reported patients
- Eosinophilic granulomaHPOHP:0032253
- 1 of 5 reported patients
- Focal active colitisHPOHP:0033164
- 1 of 5 reported patients
- Growth delayHPOHP:0001510
- 1 of 5 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 5 reported patients
- Intermittent diarrheaHPOHP:0002254
- 1 of 5 reported patients
- Interstitial pneumonitisHPOHP:0006515
- 1 of 5 reported patients
Show the remaining 10
- Macrovesicular hepatic steatosisHPOHP:0001403
- 1 of 5 reported patients
- Pulmonary infiltratesHPOHP:0002113
- 1 of 5 reported patients
- Rectal fistulaHPOHP:0100590
- 1 of 5 reported patients
- Recurrent feverHPOHP:0001954
- 1 of 5 reported patients
- Recurrent oral thrushHPOHP:0009098
- 1 of 5 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 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.
- DOCK2HGNC:2988
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: DOCK2 deficiency
- Also called
- immunodeficiency type 40