Information on CGDX
Basic details
Name: Granulomatous disease, chronic, X-linked | Acronym: CGDX
Alt. names: chronic granulomatous disease
Gene: CYBB | MOI: X-linked recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 1989
Last updated on: 2023-05-17 17:25:50 by Andrés Caballero-Oteyza
Description
It is characterized by onset of symptoms in the first months or years of life. Patients present with recurrent infections, lymphadenopathy, inflammatory bowel disease, granulomatous colitis, fever, skin infections, osteomyelitis, and/or abscesses. Infectious organisms usually include Staphylococcus aureus, Burkholderia cepacia, Serrata, Salmonella, mycobacteria, and fungi. The disorder results from impaired function of the phagocytic NADPH oxidase complex, which generates the microbiocidal respiratory burst. Laboratory studies using the DHR assay show impaired phagocytic production of reactive oxygen species in response to PMA stimulation (reviews by Dinauer et al., 2001 and Johnston, 2001; summary by Song et al., 2014).[OMIM]
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 |
|---|---|---|---|---|
| 1 | Air bronchogram |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Ascites |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Atelectasis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Childhood onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Cough |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Fever |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Granuloma |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Hepatomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Osteomyelitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Pleural effusion |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Recurrent pneumonia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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.