IL21-related infantile inflammatory bowel disease
Synonyms: IL21-related infantile IBD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | IL21-related infantile inflammatory bowel disease | IL21-related infantile IBD |
| fr | Maladie inflammatoire de l'intestin infantile associée à IL21 | |
| de | IL21-abhängige infantile chronisch-entzündliche Darmerkrankung | IL21-abhängige infantile IBD |
| es | Enfermedad inflamatoria intestinal del lactante asociada al gen IL21 | EII del lactante asociada al gen IL21 |
| it | Malattia infiammatoria intestinale neonatale correlata a IL21 | |
| nl | IL-21-gerelateerde infantiele inflammatoire darmziekte | IL-21-gerelateerde infantiele IBD |
| pt | Doença inflamatória do intestino da infância IL21-relacionada | |
| pl | Niemowlęce nieswoiste zapalenie jelit zależne od IL21 | Niemowlęce IBD zależna od IL21 |
| cs | IL21-vázaná zánětlivá nemoc střev s nástupem v kojeneckém věku | IL21-related infantile IBD · IL21-vázaná infantilní IBD |
| uk | Інфантильна запальна хвороба кишечника, повязана з IL21 | IL21-асоційована інфантильна ВЗК у дітей |
| zh | 白介素21相关婴儿炎症性肠病 | IL12相关婴儿IBD |
| tr | IL21 -ilişkili infantil inflamatuar bağırsak hastalığı | IL21-ilişkili infantil IBD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615767 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | DD7Y | NTBT | attributed | validated |
| MONDO | 0014338 | E | validated | |
| UMLS | C5567788 | 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 (2):
- ORPHA:695164Combined immunodeficiency with low B cells and hypogammaglobulinemia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:717851Rare non-syndromic inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IL21 | Disease-causing germline mutation(s) in | Assessed | HGNC:6005 | ENSG00000138684 | 605384 | 4q27 | interleukin 21 | 19890111[PMID]_24746753[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 19890111[PMID]_24746753[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19890111[PMID]_24746753[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/477661
- This record as JSON: /data/d/477661.json