Information on IMD50

Basic details

Name: Immunodeficiency 50 | Acronym: IMD50
Alt. names:

Gene: MSN | MOI: X-linked recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2016

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

OMIM: 300988

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Individuals have been described with early onset and recurrent bacterial or varicella zoster virus infections, and awareness may allow preventive measures and early and aggressive treatments of infections. Refs. PMIDs: 27405666

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 Absent Unreported

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.