Information on IBD30
Basic details
Name: Inflammatory bowel disease 30 | Acronym: IBD30
Alt. names: Inflammatory bowel disease (Crohn disease) 30
Gene: CARD8 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2018
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
Condition only described thus far in 3 members of one family (PMID: 29408806). The affected individuals all presented with Crohn disease and showed evidence of NLRP3 inflammasome activation, including high serum IL-1β and increased NLRP3 activation in PBMCs.
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.