Information on IBD34
Basic details
Name: Inflammatory bowel disease 34 | Acronym: IBD34
Alt. names: NFAT5 haploinsufficiency
Gene: NFAT5 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2015
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
OMIM:
Orphanet: -
MONDO: -
DOID: -
ClinGen:
Description
It is characterized by IBD and recurrent sinopulmonary infections. Lab studies show decreased memory B cells and plasmablasts, with normal numbers of circulating B and T cells (PMID:25667416).
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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 |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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.