Information on IMD15B

Basic details

Name: Immunodeficiency 15B | Acronym: IMD15B
Alt. names:

Gene: IKBKB | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 0 | First reported in: 2013

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

OMIM: 615592

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Individuals may be susceptible to severe and recurrent infections, and prophylaxis and early and aggressive treatment of infections may be beneficial; BMT/HSCT has been described in Immunodeficiency 15B. Refs. PMIDs: 24369075; 25216719

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	Oral candidiasis	4 (99.9%)	0 (0.0%)
2	Hypogammaglobulinemia	4 (99.9%)	0 (0.0%)
3	Infantile onset	4 (99.9%)	0 (0.0%)
4	Recurrent infections	4 (99.9%)	0 (0.0%)
5	Agammaglobulinemia	3 (75.0%)	1 (25.0%)
6	Failure to thrive	3 (75.0%)	1 (25.0%)
7	Reduced NK cell number	3 (75.0%)	1 (25.0%)
8	Death in infancy	2 (50.0%)	2 (50.0%)
9	Decreased lymphocyte proliferation in response to mitogens	2 (50.0%)	2 (50.0%)
10	Monocytosis	2 (50.0%)	2 (50.0%)

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.