ORPHA:720280
T-B+NK+ severe combined immunodeficiency
Synonyms: T-B+NK+ SCID
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | T-B+NK+ severe combined immunodeficiency | T-B+NK+ SCID |
| fr | Déficit immunitaire combiné sévère T-B+NK+ | DICS T-B+NK+ · Immunodéficience combinée sévère T-B+NK+ · SCID T-B+NK+ |
| de | Immundefekt, kombinierter schwerer, T-B+NK+ | = en |
| es | Inmunodeficiencia combinada grave T-B+NK+ | IDCG T-B+NK+ · SCID T-B+NK+ |
| it | Immunodeficienza combinata grave T-B+NK+ | SCID T-B+NK+ |
| nl | T-B+NK+ ernstige gecombineerde immuundeficiëntie | T-B+NK+ SCID · T-cel negatieve B-cel positieve NK-cel positieve ernstige gecombineerde immuundeficiëntie |
| pt | T-B+NK+ severe combined immunodeficiency | |
| pl | T-B+NK+ severe combined immunodeficiency | = en |
| cs | T-B+NK+ severe combined immunodeficiency | = en |
2
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:317416T-B+ severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
Children (8):
- ORPHA:720357Otofaciocervical syndrome with thymic hypoplasia
- ORPHA:169160T-B+NK+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta deficiency
- ORPHA:169157T-B+NK+ severe combined immunodeficiency due to CD45 deficiency
- ORPHA:228003T-B+NK+ severe combined immunodeficiency due to CORO1A deficiency
- ORPHA:169095T-B+NK+ severe combined immunodeficiency due to FOXN1 deficiency
- ORPHA:169154T-B+NK+ severe combined immunodeficiency due to IL-7Ralpha deficiency
- ORPHA:504523T-B+NK+ severe combined immunodeficiency due to LAT deficiency
- ORPHA:720371T-B+NK+ severe combined immunodeficiency due to LCP2 deficiency
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/720280
- This record as JSON: /data/d/720280.json