Combined immunodeficiency due to DOCK2 deficiency
Synonyms: CID due to DOCK2 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, primary combined T and B cell immunodeficiency characterized by early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to DOCK2 deficiency | CID due to DOCK2 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency |
| fr | Déficit immunitaire combiné par déficit en DOCK2 | CID par déficit en DOCK2 · DIC par déficit en DOCK2 · Déficit immunitaire combiné par déficit en dedicator of cytokinesis 2 · Immunodéficience combinée par déficit en DOCK2 |
| de | Kombinierter Immundefekt durch DOCK2-Mangel | CID durch DOCK2-Defizienz · DOCK2-Mangel |
| es | Inmunodeficiencia combinada por deficiencia de DOCK2 | IDC por deficiencia de DOCK2 · Inmunodeficiencia combinada por deficiencia de la proteína dedicada a la citocinesis 2 |
| it | Immunodeficienza combinata da deficit di DOCK2 | CID da deficit di DOCK2 · Immunodeficienza combinata da deficit della proteina del dedicatore della citochinesi 2 |
| nl | Gecombineerde immuundeficiëntie door DOCK2-deficiëntie | CID door DOCK2-deficiëntie · Gecombineerde immuundeficiëntie door deficiëntie van 'dedicator of cytokinesis 2'-proteïne |
| pt | Imunodeficiência combinada por deficiência de DOCK2 | CID por deficiência DOCK2 · Imunodeficiência por deficiência da proteina dedicadora a citocinese 2 |
| pl | Niedobór DOCK2 | = en |
| cs | Deficit DOCK2 | = en |
| uk | Комбінований імунодефіцит зумовлений дефіцитом DOCK2 | CID через дефіцит DOCK2 · Комбінований імунодефіцит, зумовлений дефіцитом білка дедікатора цитокінезу 2 |
| zh | DPOCK2缺乏/免疫缺陷病40型 | |
| tr | DOCK2 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616433 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | attributed | validated |
| MONDO | 0014637 | E | validated | |
| UMLS | C5925035 | E | validated | |
| GARD | 12653 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:688571Combined immunodeficiency with low immunoglobulins and normal B cells
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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DOCK2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2988 | ENSG00000134516 | 603122 | 5q35.1 | dedicator of cytokinesis 2 | 26083206[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26083206[PMID] |
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 26083206[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/447737
- This record as JSON: /data/d/447737.json