ORPHA:217390
Combined immunodeficiency due to DOCK8 deficiency
Also known as: CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency · DOCK8 immunodeficiency syndrome
Publications
94
58.8th percentile
Trials
1
Interventional, condition-specific
Researchers
711
Distinct authors in sample
Gene link
DOCK8
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
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).
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009478
- OMIM:243700
- UMLS:C4722305
- NCIT:C126343
Additional Mondo synonyms (4)
Cid due to DOCK8 deficiency · combined immunodeficiency due to DOCK8 deficiency · combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency · dedicator of cytokinesis 8 deficiency
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — DOCK8
- LiteraturePresent
94 matched papers (66 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (DOCK8).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
94
94 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
94 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
66 in the last 10 years · high confidence · 58.8th percentile (publications denominator)
Phrase hits: 94 · MeSH hits: 0
Who's working on it?
711
Distinct author names in 94 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Freeman AF11 papers · 2021
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Papers in Europe PMC - 02Su HC11 papers · 2023
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. hsu@niaid.nih.gov
Papers in Europe PMC - 03Zhang Q6 papers · 2016
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Papers in Europe PMC - 04Al-Herz W5 papers · 2019
Department of Pediatrics, Faculty of Medicine, Kuwait University, and Allergy & Clinical Immunology Unit, Pediatric Department, Al-Sabah Hospital, Safat, Kuwait. wemh@hotmail.com
Papers in Europe PMC - 05Arkwright PD5 papers · 2019
Paediatric Allergy and Immunology & the Manchester Center for Genomic Medicine, University of Manchester, Manchester, United Kingdom.
Papers in Europe PMC - 06Geha RS5 papers · 2016
Division of Immunology, Children's Hospital, Boston, Mass.
Papers in Europe PMC - 07Cornall RJ4 papers · 2024
MRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Papers in Europe PMC - 08Grimbacher B4 papers · 2022
Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Papers in Europe PMC - 09Hickstein DD4 papers · 2021
Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md.
Papers in Europe PMC - 10Holland SM4 papers · 2017
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT01212055·RECRUITING·Apheresis of Patients With Immunodeficiency
Conditions: LAD-1 · DOCK8 · GATA2 Deficancy·Matched via recall expansion
- NCT00895271·ENROLLING BY INVITATION·Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
Conditions: Primary Immunodeficiency · DOCK8 · Virus Susceptibility·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Combined immunodeficiency due to DOCK8 deficiency" OR "CID due to DOCK8 deficiency" OR "Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency" OR "Combined immunodeficiency due to dedicator of the cytokinesis 8 protein deficiency" OR "DOCK8 immunodeficiency syndrome" OR "dedicator of cytokinesis 8 deficiency" OR "dedicator of the cytokinesis 8 deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Combined immunodeficiency due to DOCK8 deficiency" OR "CID due to DOCK8 deficiency" OR "Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency" OR "Combined immunodeficiency due to dedicator of the cytokinesis 8 protein deficiency" OR "DOCK8 immunodeficiency syndrome" OR "dedicator of cytokinesis 8 deficiency" OR "dedicator of the cytokinesis 8 deficiency" OR "DOCK8"
Recall-expansion terms: DOCK8
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T09:50:28.828Z