Statements (65)
Predicate | Object |
---|---|
gptkbp:instance_of |
gptkb:Chronic_Granulomatous_Disease
|
gptkbp:affects |
depends on treatment
early diagnosis improves prognosis monitoring required for complications |
gptkbp:associated_with |
increased mortality risk
defective phagocyte function |
gptkbp:caused_by |
mutation in the CYBB gene
|
gptkbp:chromosome |
X chromosome
|
gptkbp:clinical_trial |
ongoing studies
skin infections lymphadenopathy ongoing for better understanding hepatosplenomegaly varies by study granuloma formation aims to improve therapies |
gptkbp:complication |
gptkb:Oncology
sepsis abscess formation osteomyelitis |
gptkbp:condition |
gptkb:disease
autoimmune diseases granulomatous diseases other forms of CGD |
gptkbp:diagnosis |
flow cytometry
nitroblue tetrazolium test clinical and laboratory findings |
gptkbp:financial_support |
support groups available
|
gptkbp:first_described_by |
in the 1950s
|
gptkbp:gender |
more common in males
|
gptkbp:genetic_studies |
available for diagnosis
recommended for families affects immune response leads to increased susceptibility to infections |
https://www.w3.org/2000/01/rdf-schema#label |
X-linked CGD
|
gptkbp:inherits_from |
X-linked recessive
|
gptkbp:pathway |
defect in NADPH oxidase
|
gptkbp:patient_education |
important for management
|
gptkbp:patient_population |
primarily affects children
|
gptkbp:prevalence |
rare disorder
|
gptkbp:promoter |
gptkb:CYBB
|
gptkbp:provides_guidance_on |
established treatment protocols
|
gptkbp:public_awareness |
increased awareness needed
|
gptkbp:research_areas |
genetic disorders
pediatric diseases immunodeficiencies |
gptkbp:research_focus |
immunology
gene therapy advancements new antibiotics |
gptkbp:risk_factor |
family history
|
gptkbp:symptoms |
fungal infections
recurrent bacterial infections preventive care important |
gptkbp:transmission |
X-linked inheritance
|
gptkbp:treatment |
gptkb:gene_therapy
gptkb:interferon-gamma improve quality of life antibiotics bone marrow transplant new therapeutic approaches immunomodulatory therapies antifungal therapies reduce infection risk |
gptkbp:bfsParent |
gptkb:CYBB
|
gptkbp:bfsLayer |
7
|