Combined immunodeficiency due to IL21R deficiency
Synonyms: CID due to IL21R deficiency · Combined immunodeficiency due to interleukin 21 receptor deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, non-severe combined immunodeficiency disorder characterized by variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxicity to lymphopenia) due to IL21R deficiency, manifesting with recurrent respiratory and/or gastrointestinal tract infections and, in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to IL21R deficiency | CID due to IL21R deficiency · Combined immunodeficiency due to interleukin 21 receptor deficiency |
| fr | Déficit immunitaire combiné par déficit en IL21R | CID par déficit en IL21R · DIC par déficit en IL21R · Déficit immunitaire combiné par déficit en protéine interleukin 21 receptor · Immunodéficience combinée par déficit en IL21R |
| de | Kombinierter Immundefekt durch IL21R-Mangel | CID durch IL21R-Defizienz · IL-21R-Defekt · Kombinierter Immundefekt durch Interleukin-21-Rezeptor-Mangel |
| es | Inmunodeficiencia combinada por deficiencia de IL21R | IDC por deficiencia de IL21R · Inmunodeficiencia combinada por deficiencia del receptor de interleucina 21 |
| it | Immunodeficienza combinata da deficit di IL21R | CID da deficit di IL21R · Immunodeficienza combinata da deficit del recettore dell'interleuchina 21 |
| nl | Gecombineerde immuundeficiëntie door IL21R-deficiëntie | CID door IL21R-deficiëntie · Gecombineerde immuundeficiëntie door deficiëntie van interleukine 21-receptor |
| pt | Imunodeficiência combinada por deficiência de IL21R | |
| pl | Kryptosporidioza - przewlekłe zapalenie dróg żółciowych - choroba wątroby | Złożony niedobór odporności spowodowany niedoborem IL21R |
| cs | Syndrom zahrnující kryptosporidiózu, chronickou cholangitidu a postižení jater | = en |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом IL21R | |
| zh | IL21R基因缺陷所致联合免疫缺陷 | |
| tr | IL21R eksikliğine bağlı kombine immün yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615207 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| UMLS | C5191307 | 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 (1):
- ORPHA:688571Combined immunodeficiency with low immunoglobulins and normal B cells
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IL21R | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6006 | ENSG00000103522 | 605383 | 16p12.1 | interleukin 21 receptor | 23440042[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 23440042[PMID]_25769540[PMID]_25398835[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23440042[PMID]_25769540[PMID]_25398835[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/357329
- This record as JSON: /data/d/357329.json