Information on IMD67

Basic details

Name: Immunodeficiency 67 | Acronym: IMD67
Alt. names:

Gene: IRAK4 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2003

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

OMIM: 607676

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 12637671; 15069404; 16647421; 17893200; 21734245

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	Infantile onset	3 (99.9%)	0 (0.0%)
2	Recurrent staphylococcal infections	3 (99.9%)	0 (0.0%)
3	Recurrent streptococcal infections	3 (99.9%)	0 (0.0%)
4	Increased IgE levels	2 (66.7%)	1 (33.3%)
5	Childhood onset	1 (99.9%)	0 (0.0%)
6	Absent ab-response to pneumococcal polysaccharide vaccine	1 (99.9%)	0 (0.0%)
7	Liver abscess	1 (33.3%)	2 (66.7%)
8	Meningitis	1 (99.9%)	0 (0.0%)
9	Infective Arthritis	1 (99.9%)	0 (0.0%)
10	Abnormal B cell count	0 (0.0%)	1 (99.9%)
11	Abnormal T cell count	0 (0.0%)	1 (99.9%)
12	Abnormal NK cell count	0 (0.0%)	1 (99.9%)

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.