Combined immunodeficiency with granulomas and/or autoimmunity due to RAG defect
Synonyms: CID with granulomas and/or autoimmunity due to RAG defect · Combined immunodeficiency with granulomas and/or autoimmunity due to recombination activating gene defect
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency with granulomas and/or autoimmunity due to RAG defect | CID with granulomas and/or autoimmunity due to RAG defect · Combined immunodeficiency with granulomas and/or autoimmunity due to recombination activating gene defect |
| fr | Déficit immunitaire combiné avec granulomes et/ou auto-immunité par déficit en RAG | CID-G/AI · DIC avec granulomes et/ou auto-immunité par déficit en RAG · CID avec granulomes et/ou auto-immunité par déficit en RAG · Déficits combinés de l'immunité humorale et cellulaire avec granulomes multiples · Immunodéficience combinée avec granulomes et/ou auto-immunité par déficit en RAG · Déficit immunitaire combiné avec granulomes et/ou auto-immunité par déficit en protéine recombination activating gene |
| de | Kombinierter Immundefekt mit Granulomatose und/oder Autoimmunität durch RAG-Defekt | CID mit Granulomatose und/oder Autoimmunität durch RAG 1/2-Defekt · Immundefekt, kombinierter, durch RAG 1/2-Mangel |
| es | Inmunodeficiencia combinada con granulomatosis y/o autoinmunidad por un defecto RAG | CID con granulomatosis y/o autoinmunidad por un defecto de RAG · IDC con granulomatosis y/o autoinmunidad por un defecto de RAG · Inmunodeficiencia combinada con granulomatosis y/o autoinmunidad por un defecto del gen activador de recombinación |
| it | Immunodeficienza combinata con granulomi e/o autoimmunità da deficit di RAG | CID con granulomi e/o autoimmunità da deficit di RAG · Immunodeficienza combinata con granulomi e/o autoimmunità da difetto del gene attivante la ricombinazione |
| nl | Gecombineerde immuundeficiëntie met granulomen en/of auto-immuniteit door RAG-defect | CID met granulomen en/of auto-immuniteit door RAG-defect · Gecombineerde immuundeficiëntie met granulomen en/of auto-immuniteit door defect van recombinatie-activerend gen |
| pt | Imunodeficiência combinada com granulomatose | |
| pl | Złożony Niedobór odporności z ziarniniakami skóry | CID z powodu niedoboru RAG 1/2 · Złożony Niedobór odporności z powodu niedoboru RAG 1/2 |
| cs | Kombinovaná imunodeficience s kožními granulomy | CID zpusobený deficitem RAG 1/2 · CID způsobený deficitem RAG 1/2 · Kombinovaná imunodeficience způsobená deficitem RAG 1/2 · Těžká kombinovaná imunodeficience způsobená mutací RAG1 či RAG 2 |
| uk | Комбінований імунодефіцит з гранулематозом | КІД через дефіцит RAG 1/2 · Комбінований імунодефіцит внаслідок дефіциту RAG 1/2 |
| zh | 细胞和体液免疫缺陷合并肉芽肿 | RAG1/2缺陷所致联合免疫缺陷 |
| tr | Granülomatoz ile seyreden kombine immün yetmezlik | RAG1/2 eksikliğine bağlı CID · RAG1/2 eksikliğine bağlı kombine immün yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 233650 | E | validated | |
| ICD-10 | D81.1 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | attributed | validated |
| MONDO | 0009306 | E | validated | |
| UMLS | C5191061 | E | validated | |
| GARD | 13587 | 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 (4):
- ORPHA:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases - 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.
Genes
2 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 | 18463379[PMID] |
| RAG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9832 | ENSG00000175097 | 179616 | 11p12 | recombination activating 2 | 18463379[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157949
- This record as JSON: /data/d/157949.json