Information on CRACR2AD
Basic details
Name: CRACR2A deficiency | Acronym: CRACR2AD
Alt. names:
Gene: CRACR2A | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2021
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
OMIM:
Orphanet: -
MONDO: -
DOID: -
ClinGen:
Description
Only 1 patient reported with this condition. Patient presented with later onset, chronic diarrhea, recurrent lower respiratory tract infections, including pneumonia, low Ig, normal levels of B cells, and slightly reduced T cell numbers.(PMID: 34908525)
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.