ORPHA:231154
Atypical/leaky severe combined immunodeficiency due to partial RAG defect
Synonyms: Atypical/leaky SCID due to partial RAG defect · Atypical/leaky severe combined immunodeficiency due to partial recombination activating gene defect
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atypical/leaky severe combined immunodeficiency due to partial RAG defect | Atypical/leaky SCID due to partial RAG defect · Atypical/leaky severe combined immunodeficiency due to partial recombination activating gene defect |
| fr | Déficit immunitaire combiné sévère atypique/atténué par déficit partiel en RAG | DICS atypique/atténué par déficit partiel en RAG · SCID atypique/atténuée par déficit partiel en RAG · Immunodéficience combinée sévère atypique/atténuée par déficit partiel en RAG · Déficit immunitaire combiné sévère atypique/atténué par déficit partiel en protéine recombination activating gene |
| de | Atypischer schwerer kombinierter Immundefekt durch partiellen RAG1-Mangel | Leaky-SCID durch partiellen RAG1-Defekt · Atypischer/Leaky-SCID mit partieller Rekombinationsaktivierung durch Gendefekt |
| es | Inmunodeficiencia combinada grave atípica/con fugas por un defecto parcial de RAG | IDCG atípica/con fugas por un defecto parcial de RAG · Inmunodeficiencia combinada grave atípica/con fugas por un defecto parcial del gen activador de recombinación |
| it | Immunodeficienza combinata grave atipica/con perdite da difetto parziale di RAG | SCID atipica/con perdite da difetto parziale di RAG · Immunodeficienza combinata grave atipica/con perdite da difetto parziale del gene attivante la ricombinazione |
| nl | Atypische/lekkende ernstige gecombineerde immuundeficiëntie door partieel RAG-defect | Atypische/lekkende SCID door partieel RAG-defect · Atypische/lekkende ernstige gecombineerde immuundeficiëntie door partieel defect van recombinatie-activerend gen |
| pt | Imunodeficiência combinada por deficiência parcial do RAG1 | |
| pl | Złożony niedobór odporności z powodu częściowego niedoboru RAG1 | CID powodu częściowego niedoboru RAG1 · CID z ekspansją komórek gamma delta T · Złożony niedobór odporności z ekspansją komórek gamma delta T |
| cs | Kombinovaná imunodeficience T+ B+ způsobená parciálním RAG1 deficitem | CID T+ B+ způsobená parciálním RAG1 deficitem · CID s expanzí gama delta T-buněk |
| uk | Комбінований імунодефіцит, зумовлений частковою недостатністю RAG1 | КІД через частковий дефіцит RAG1 · КІД з експансією гамма-дельта Т-лімфоцитів · Комбінований імунодефіцит з експансією гамма-дельта Т-клітин |
| zh | 部分RAG1基因缺陷所致联合免疫缺陷 | γδT细胞增生所致联合免疫缺陷 |
| tr | Kısmi RAG1 eksikliğine bağlı kombine immün yetmezlik | Kısmi RAG1 eksikliğine bağlı CID · Gama delta T hücrelerinin genişlemesi ile seyreden CID · Gama delta T hücrelerinin genişlemesi ile seyreden kombine immün yetmezlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609889 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0012359 | E | validated | |
| UMLS | C4510944 | E | validated | |
| GARD | 13712 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:480549Non-severe combined immunodeficiency
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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RAG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9831 | ENSG00000166349 | 179615 | 11p12 | recombination activating 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 16276422[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16276422[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.
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HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010976 | Decreased total B cell count | |
| HP:0005403 | Decreased total T cell count | |
| HP:0002721 | Immunodeficiency | |
| HP:0006515 | Interstitial pneumonitis | |
| HP:0100806 | Sepsis | |
| HP:0004430 | Severe combined immunodeficiency | |
| HP:0001744 | Splenomegaly | |
| Frequent (79-30%) | ||
| HP:0001890 | Autoimmune hemolytic anemia | |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | |
| Occasional (29-5%) | ||
| HP:0002960 | Autoimmunity | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231154
- This record as JSON: /data/d/231154.json