Information on CGD4

Basic details

Name: Granulomatous disease, chronic, 4 | Acronym: CGD4
Alt. names:

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

No. of cases in DB: 0 | First reported in: 1990

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

OMIM: 233690

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Surveillance for infections and infectious complications is indicated, and preventive measures (eg, antibacterial/antifungal prophylaxis, interferon gamma) may be beneficial; To treat fungal infections, specific antifungal drugs may be beneficial, and longer treatment courses (as well as specific considerations including coadministration with corticosteroids) may be indicated in individuals with CGD; In some instances, HSCT may be beneficial; Certain agents should be avoided, including material that would allow fungal spore inhalation. Refs. PMIDs: 4384563; 2770793; 3368442; 2713485; 2243141; 1415254; 11060536; 12073015; 18422995; 10759707; 20407811; 22336310; 22562447; 22876374; 22924696; 23910690

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

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