Combined immunodeficiency due to CARD11 deficiency
Synonyms: CID due to CARD11 deficiency · Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare non-severe combined immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions due to CARD11 deficiency. It presents with severe susceptibility to infections, including opportunistic infections.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to CARD11 deficiency | CID due to CARD11 deficiency · Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency |
| fr | Déficit immunitaire combiné par déficit en CARD11 | CID par déficit en CARD11 · DIC par déficit en CARD11 · Déficit immunitaire combiné par déficit en caspase recruitment domain protein family member 11 |
| de | Immundefekt, kombinierter, durch CARD11-Mangel | CARD11-Defekt · CID durch CARD11-Defizienz |
| es | Inmunodeficiencia combinada por deficiencia de CARD11 | IDC por deficiencia de CARD11 · Inmunodeficiencia combinada por deficiencia del miembro 11 de la familia del dominio de reclutamiento de caspasas |
| it | Immunodeficienza combinata da deficit di CARD11 | CID da deficit di CARD11 · Immunodeficienza combinata da deficit della proteina 11 membro della famiglia contenente il dominio di reclutamento delle caspasi |
| nl | Gecombineerde immuundeficiëntie door CARD11-deficiëntie | CID door CARD11-deficiëntie · Gecombineerde immuundeficiëntie door deficiëntie van 'caspase recruitment domain family member 11'-proteïne |
| pt | Imunodeficiência combinada grave por deficiência de CARD11 | CID por deficiência CARD11 · Imunodeficiência combinada por deficiência do domínio de recrutamento de caspases na proteína do membro da família 11 |
| pl | Ciężki złożony niedobór odporności z powodu deficytu CARD11 | SCID z powodu niedoboru CARD11 |
| cs | Těžká kombinovaná imunodeficience způsobená deficitem CARD11 | SCID způsobená deficitem CARD11 |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом CARD11 | КІД через дефіцит CARD11 · Комбінований імунодефіцит, зумовлений дефіцитом білка 11 члена родини домену рекрутування каспаз |
| zh | CARD11基因缺陷所致重症联合免疫缺陷 | CARD11基因缺陷所致SCID |
| tr | CARD11 eksikliğine bağlı ağır kombine immün yetmezlik | CARD11 eksikliğine bağlı SCID |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615206 | E | validated | |
| ICD-10 | D81.2 | NTBT | attributed | validated |
| MONDO | 0014081 | E | validated | |
| UMLS | C5925010 | 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 |
|---|---|---|---|---|---|---|---|---|
| CARD11 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16393 | ENSG00000198286 | 607210 | 7p22.2 | caspase recruitment domain family member 11 | 23561803[PMID]_23374270[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 25087226[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25087226[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/357237
- This record as JSON: /data/d/357237.json