Information on IMD27A

Basic details

Name: Immunodeficiency 27A | Acronym: IMD27A
Alt. names:

Gene: IFNGR1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 1996

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

OMIM: 209950

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Individuals may be susceptible to frequent and severe mycobacterial infections, and awareness and early and aggressive treatment of infections may be beneficial; Consideration of potential adverse effects of BCG vaccination in some individuals may be beneficial. Refs. PMIDs: 8960475; 8960473; 9389728; 10192386

Management

Description of management option has not been reviewed yet.

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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.