Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic immune disease characterized by early onset of recurrent bacterial, viral, and fungal infections, chronic inflammatory bowel disease, gastritis, and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis, and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome | |
| fr | Syndrome de dérèglement immunitaire-maladie inflammatoire de l'intestin-arthrite-infections récurrentes-lymphopénie | |
| de | Immundysregulation-entzündliche Darmerkrankung-Arthritis-rekurrente Infektionen-Lymphopenie | |
| es | Síndrome de desregulación inmunológica-enfermedad inflamatoria intestinal-artritis-infecciones recurrentes-linfopenia | |
| it | Sindrome disregolazione immunitaria - malattia infiammatoria intestinale - artrite - infezioni ricorrenti- linfopenia | |
| nl | Immuundisregulatie - inflammatoire darmziekte - artritis - recurrente infecties - lymfopenie-syndroom | |
| pt | Síndrome de imunodesregulação-doença inflamatória do intestino-artrite-infeções recorrentes-linfopenia | |
| pl | Zespół dysregulacji immunologicznej, zapalnej choroby jelita, zapalenia stawów, nawracających infekcji i limfopenii | |
| cs | Syndrom zahrnující imunitní dysregulaci, zánětlivé onemocnění střev, artritidu, recidivující infekce a lymfopenii | |
| uk | Синдром імунної дисрегуляції-запальних захворювань кишечника-артриту-рецидивуючих інфекцій-лімфопенії | |
| zh | 免疫失调-炎症性肠病-关节炎-复发性感染-淋巴细胞减少综合征 | |
| tr | Bağışıklık düzensizliği-inflamatuar bağırsak hastalığı-artrit-tekrarlayan enfeksiyonlar-lenfopeni sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618108 | E | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.2Y | NTBT | attributed | validated |
| MONDO | 0033968 | E | validated | |
| UMLS | C5568533 | 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:529974Immune dysregulation with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:271870Rare genetic systemic or rheumatologic disease
rare genetic diseases - ORPHA:182231Rare rheumatologic disease
rare systemic and rheumatological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RIPK1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10019 | ENSG00000137275 | 603453 | 6p25.2 | receptor interacting serine/threonine kinase 1 | 30026316[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 30026316[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30026316[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/529977
- This record as JSON: /data/d/529977.json