ORPHA:169355
Immunodeficiency syndrome with autoimmunity
- Type
- Category
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immunodeficiency syndrome with autoimmunity | |
| fr | Syndrome de déficit immunitaire avec auto-immunité | Syndrome d'immunodéficience avec auto-immunité |
| de | Immundefekt-Syndrom mit Autoimmunität | |
| es | Síndrome de inmunodeficiencia con autoinmunidad | |
| it | Sindrome da immunodeficienza con autoimmunità | |
| nl | Immuundeficiëntiesyndroom met auto-immuniteit | |
| pt | Síndrome de imunodeficiência com autoimunidade | |
| pl | Zespół niedoboru odporności z autoagresją | |
| cs | Syndromy s imunodeficitem a autoimunitou | |
| uk | Синдром імунодефіциту з аутоімунними захворюваннями | |
| zh | 自身免疫性免疫缺陷综合征 | |
| tr | Otoimmüniteli immün yetmezlik sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 4A01.21 | E | specific | validated |
| MONDO | 15709 | E | validated | |
| UMLS | C5680460 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:169361Immune dysregulation disease with immunodeficiency
rare genetic diseases; rare immunological diseases - ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders
Children (17):
- ORPHA:444463Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
- ORPHA:3261Autoimmune lymphoproliferative syndrome
- ORPHA:436159Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- ORPHA:275517Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
- ORPHA:3453Autoimmune polyendocrinopathy type 1
- ORPHA:688594Combined immunodeficiency due to RELB deficiency
- ORPHA:275523Dianzani autoimmune lymphoproliferative disease
- ORPHA:619948Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
- ORPHA:658946Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
- ORPHA:306550FADD-related immunodeficiency
- ORPHA:699590Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency
- ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
- ORPHA:169100Immunodeficiency due to CD25 deficiency
- ORPHA:268114RAS-associated autoimmune leukoproliferative disease
- ORPHA:391487STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- ORPHA:438159STAT3-related early-onset multisystem autoimmune disease
- ORPHA:228426Syndromic multisystem autoimmune disease due to Itch 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169355
- This record as JSON: /data/d/169355.json