ORPHA:217390
Combined immunodeficiency due to DOCK8 deficiency
Synonyms: CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency · DOCK8 immunodeficiency syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to DOCK8 deficiency | CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency · DOCK8 immunodeficiency syndrome |
| fr | Déficit immunitaire combiné par déficit en DOCK8 | CID par déficit en DOCK8 · DIC par déficit en DOCK8 · Déficit immunitaire combiné par déficit en dedicator of cytokinesis 8 |
| de | Immundefekt, kombinierter schwerer, durch DOCK8-Mangel | Immundefekt, kombinierter schwerer, durch DOCK8-Defekt · SCID durch DOCK8-Mangel |
| es | Inmunodeficiencia combinada por deficiencia de DOCK8 | CID por deficiencia de DOCK8 · Inmunodeficiencia combinada por deficiencia de dedicador de la proteina citocinesis 8 · Síndrome de inmunodeficiencia DOCK8 |
| it | Immunodeficienza combinata da deficit di DOCK8 | CID da deficit di DOCK8 · Immunodeficienza combinata da deficit del dedicatore della proteina di citochinesi 8 · Sindrome da immunodeficienza DOCK8 |
| nl | Gecombineerde immuundeficiëntie als gevolg van DOCK8-deficiëntie | CID als gevolg van DOCK8-deficiëntie · DOCK8 immuundeficiëntiesyndroom · Gecombineerde immuundeficiëntie als gevolg van dedicator of cytokinese 8-proteïnedeficiëntie |
| pt | Imunodeficiência combinada por deficiência de DOCK8 | |
| pl | Złożony Niedobór odporności z powodu deficytu DOCK8 | CID z powodu niedoboru DOCK8 · Zespół niedoboru odporności DOCK8 |
| cs | Kombinovaná imunodeficience způsobená deficitem DOCK8 | Syndrom DOCK8 imunodeficience · CID způsobená deficitem DOCK8 · Kombinovaná imunodeficience způsobená deficitem donoru proteinu cytokineze 8 |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом DOCK8 | CID через дефіцит DOCK8 · Комбінований імунодефіцит, зумовлений дефіцитом білка десикатора цитокінезу 8 · Синдром імунодефіциту DOCK8 |
| zh | DOCK8基因缺陷所致联合免疫缺陷 | 胞质分裂作用蛋白8缺陷所致联合免疫缺陷 |
| tr | DOCK8 eksikliğine bağlı kombine immün yetmezlik | DOCK8 eksikliğine bağlı CID · DOCK8 immün yetmezlik sendromu · Sitokinez 8 protein eksikliğinin belirleyicisine bağlı kombine immün yetmezlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243700 | E | validated | |
| ICD-10 | D81.1 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0009478 | E | validated | |
| UMLS | C5679816 | E | validated | |
| GARD | 2816 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:695164Combined immunodeficiency with low B cells and hypogammaglobulinemia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DOCK8 | Disease-causing germline mutation(s) in | Assessed | HGNC:19191 | ENSG00000107099 | 611432 | 9p24.3 | dedicator of cytokinesis 8 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 19776401[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19776401[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002099 | Asthma | |
| HP:0001047 | Atopic dermatitis | |
| HP:0000389 | Chronic otitis media | |
| HP:0010976 | Decreased total B cell count | |
| HP:0005403 | Decreased total T cell count | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0012203 | Onychomycosis | |
| HP:0002090 | Pneumonia | |
| HP:0005406 | Recurrent bacterial skin infections | |
| HP:0005401 | Recurrent candida infections | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0011108 | Recurrent sinusitis | |
| HP:0004429 | Recurrent viral infections | |
| HP:0200042 | Skin ulcer | |
| HP:0200043 | Verrucae | |
| Occasional (29-5%) | ||
| HP:0006763 | Anal canal squamous carcinoma | |
| HP:0002860 | Squamous cell carcinoma | |
| HP:0030417 | Squamous cell carcinoma of the vulva | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217390
- This record as JSON: /data/d/217390.json