Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome
Synonyms: NFAT5 haploinsufficiency
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy
- Status
- active
A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome | NFAT5 haploinsufficiency |
| fr | Syndrome de dérèglement immunitaire-maladie inflammatoire de l'intestin-infections sinopulmonaires récurrentes | Déficit en NFAT5 |
| de | Entzündliche Darmerkrankung-rekurrente sinupulmonale Infektionen-Syndrom | NFAT5-Haploinsuffizienz |
| es | Síndrome de desregulación inmunológica-enfermedad inflamatoria intestinal-infecciones sinopulmonares recurrentes | Haploinsuficiencia de NFAT5 |
| it | Sindrome disregolazione immunitaria-malattia infiammatoria intestinale-infezioni sinopolmonari ricorrenti | Aploinsufficienza di NFAT5 |
| nl | Immuundisregulatie - inflammatoire darmziekte - recidiverende sinopulmonale infecties-syndroom | NFAT5-haploinsufficiëntie |
| pt | Síndrome de doença inflamatória do intestino-infeções sinopulmonares recorrentes | |
| pl | Zaburzenia regulacji układu odpornościowego – nieswoiste zapalenie jelit – zespół nawracających zakażeń zatok i płuc | = en |
| cs | Syndrom zahrnující zánětlivé onemocnění střev a recidivující sinopulmonární infekce | Haploinsuficience NFAT5 |
| uk | Синдром запальних захворювань кишечника-рецидивуючих сінолегеневих інфекцій | Гаплонедостатність NFAT5 |
| zh | 炎症性肠病-复发性窦肺感染综合征 | NFAT5单倍剂量不足 |
| tr | İnflamatuar bağırsak hastalığı-tekrarlayan sinopulmoner enfeksiyon sendromu | NFAT5 haployetersizlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.2Y | NTBT | attributed | validated |
| MONDO | 0033969 | E | validated | |
| UMLS | C5568532 | 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 (1):
- ORPHA:529974Immune dysregulation with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NFAT5 | Candidate gene tested in | Not yet assessed | HGNC:7774 | ENSG00000102908 | 604708 | 16q22.1 | nuclear factor of activated T cells 5 | 25667416[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 25667416[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25667416[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/529980
- This record as JSON: /data/d/529980.json