Information on IMD17

Basic details

Name: Immunodeficiency 17 | Acronym: IMD17
Alt. names:

Gene: CD3G | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 1992

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

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 1709425; 1635567

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.

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).

[Considering only Definitive and Possible cases]

Rank	Clinical term	Present	Unreported
1	Infantile onset	3 (99.9%)	0 (0.0%)
2	Anoperineal fistula	2 (99.9%)	0 (0.0%)
3	Chronic decreased cirulating IgG2	2 (99.9%)	0 (0.0%)
4	Chronic diarrhea	2 (99.9%)	0 (0.0%)
5	Oral candidiasis	2 (99.9%)	0 (0.0%)
6	Recurrent otitis media	2 (99.9%)	0 (0.0%)
7	Recurrent respiratory infections	2 (99.9%)	0 (0.0%)
8	Reduced T cell count	2 (99.9%)	0 (0.0%)
9	Autoimmune hemolytic anemia	1 (50.0%)	1 (50.0%)
10	Death in childhood	1 (50.0%)	1 (50.0%)
11	Death in infancy	1 (50.0%)	1 (50.0%)
12	Failure to thrive	1 (50.0%)	1 (50.0%)
13	Abnormal B cell morphology	0 (0.0%)	2 (99.9%)

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

[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.