Information on IMD53

Basic details

Name: Immunodeficiency 53 | Acronym: IMD53
Alt. names:

Gene: RELB | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2015

Last updated on: 2023-02-28 16:41:18 by

OMIM: 617585

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Individuals have been described with recurrent respiratory and other infections, and awareness may allow preventative measures and early and aggressive treatment of infections; HSCT has been described. Refs. PMIDs: 26385063; 28552761

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	Unreported
1	Chronic cough	3 (99.9%)	0 (0.0%)
2	Impaired lymphocyte transformation with phytohemagglutinin	3 (99.9%)	0 (0.0%)
3	Infantile onset	3 (99.9%)	0 (0.0%)
4	Neutrophilia	3 (99.9%)	0 (0.0%)
5	Recurrent pneumonia	3 (99.9%)	0 (0.0%)
6	Recurrent otitis media	2 (66.7%)	1 (33.3%)
7	Asthma	1 (33.3%)	2 (66.7%)
8	Failure to thrive	1 (33.3%)	2 (66.7%)
9	Recurrent upper respiratory tract infection	1 (33.3%)	2 (66.7%)
10	Recurrent urinary tract infections	1 (33.3%)	2 (66.7%)
11	Skin rash	1 (33.3%)	2 (66.7%)

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.