Information on IBD34
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 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.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|
Age of onset
distribution
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.
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).