X-linked CGD

GPTKB entity

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