Immunodeficiency due to CD25 deficiency
Synonyms: Interleukin-2 receptor alpha chain deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic primary immunodeficiency due to a defect in adaptive immunity characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immunodeficiency due to CD25 deficiency | Interleukin-2 receptor alpha chain deficiency |
| fr | Déficit immunitaire par déficit en CD25 | Déficit en chaîne alpha du récepteur de l'interleukine-2 · Immunodéficience par déficit en CD25 |
| de | Immundefekt durch CD25-Mangel | Defekt der Interleukin-2-Rezeptor-alpha-Kette |
| es | Inmunodeficiencia por deficiencia de CD25 | Deficiencia de cadena alpha del receptor de la interleuquina 2 |
| it | Immunodeficienza da deficit di CD25 | Deficit della catena alfa del recettore dell'interleuchina-2 |
| nl | Immuundeficiëntie door CD25-deficiëntie | Deficiëntie van alfaketen van interleukine-2-receptor |
| pt | Imunodeficiência por deficiência de CD25 | |
| pl | Niedobór odporności z powodu deficytu CD25 | Niedobór łańcucha alfa receptora dla interleukiny-2 |
| cs | Imunodeficience způsobená deficitem CD25 | IL2RA deficit · Deficit alfa řetězce interleukin-2 receptoru |
| uk | Імунодефіцит через дефіцит CD25 | Дефіцит альфа-ланцюга рецептора інтерлейкіну-2 |
| zh | CD25因子缺乏免疫缺陷 | 白介素-2受体α链缺乏症 |
| tr | CD25 eksikliğine bağlı immün yetmezlik | İnterlökin-2 reseptör alfa zinciri eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606367 | E | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.21 | NTBT | index | validated |
| MONDO | 0011664 | E | validated | |
| UMLS | C4755277 | 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 (3):
- ORPHA:169355Immunodeficiency syndrome with autoimmunity
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 - ORPHA:522043Syndromic autoimmune enteropathy
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 |
|---|---|---|---|---|---|---|---|---|
| IL2RA | Disease-causing germline mutation(s) in | Assessed | HGNC:6008 | ENSG00000134460 | 147730 | 10p15.1 | interleukin 2 receptor subunit alpha | 9096364[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 17196245[PMID]_9096364[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17196245[PMID]_9096364[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/169100
- This record as JSON: /data/d/169100.json