Information on IMD65

Basic details

Name: Immunodeficiency 65 | Acronym: IMD65
Alt. names:

Gene: IRF9 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2018

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

OMIM: 618648

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Individuals have been described with early-onset severe and recurrent viral infections, and antiinfectious prophylaxis (intravenous immunoglobulin has been described) and early and aggressive treatment of infections may be beneficial; live attenuated vaccines have been reported as resulting in poor outcomes in patients with impaired interferon responses. Refs. PMIDs: 30143481; 30826365

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

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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.