combined immunodeficiency due to DOCK8 deficiency
Findings
No curated finding names combined immunodeficiency due to DOCK8 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).
Definition from the Mondo Disease Ontology (MONDO:0009478), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
44 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.
- Atopic dermatitisHPOHP:0001047
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Decreased circulating IgM concentrationHPOHP:0002850
- 11 of 11 reported patients
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 11 of 11 reported patients
- Recurrent bacterial infectionsHPOHP:0002718
- 11 of 11 reported patients
- Recurrent viral infectionsHPOHP:0004429
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Eczematoid dermatitisHPOHP:0000964
- 144 of 146 reported patients
Show the remaining 32
- AsthmaHPOHP:0002099
- 58 of 108 reported patients
- Very frequent (80% to 99% of cases)
- Chronic otitis mediaHPOHP:0000389
- Very frequent (80% to 99% of cases)
- Decreased total B cell countHPOHP:0010976
- Very frequent (80% to 99% of cases)
- Decreased total T cell countHPOHP:0005403
- Very frequent (80% to 99% of cases)
- PneumoniaHPOHP:0002090
- Very frequent (80% to 99% of cases)
- Recurrent bacterial skin infectionsHPOHP:0005406
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.
- DOCK8HGNC:19191
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2015
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: combined immunodeficiency due to DOCK8 deficiency
- Also called
- Cid due to DOCK8 deficiencycombined immunodeficiency due to dedicator of cytokinesis 8 protein deficiencydedicator of cytokinesis 8 deficiencyDOCK8 immunodeficiency syndrome