Information on IMD38

Basic details

Name: Immunodeficiency 38 | Acronym: IMD38
Alt. names: Immunodeficiency 38, with basal ganglia calcification

Gene: ISG15 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2012

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

OMIM: 616126

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Individuals may sufffer from severe infections (including Mycobacterial and Salmonella), and antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; BCG vaccine has been reported as resulting in adverse reactions. Refs. PMIDs: 22859821; 25307056

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	BCGitis	3 (99.9%)	0 (0.0%)
2	Basal ganglia calcification	3 (99.9%)	0 (0.0%)
3	Seizures	3 (50.0%)	3 (50.0%)
4	Lymphadenopathy	2 (66.7%)	1 (33.3%)
5	Recurrent mycobacterial infections	2 (66.7%)	1 (33.3%)
6	Axillary Lymphadenopathy	1 (33.3%)	2 (66.7%)
7	Infantile onset	1 (99.9%)	0 (0.0%)
8	Inguinal lymphadenopathy	1 (33.3%)	2 (66.7%)
9	Neurodevelopmental abnormality	0 (0.0%)	3 (99.9%)
10	Recurrent viral infections	0 (0.0%)	3 (99.9%)
11	(unusual) Viral infection	0 (0.0%)	3 (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.