X-linked Chronic Granulomatous Disease

GPTKB entity

Statements (51)
Predicate Object
gptkbp:instance_of gptkb:Genetics
gptkbp:advocacy active
gptkbp:affects immune system
gptkbp:associated_with catalase-positive bacteria
gptkbp:caused_by mutation in the CYBB gene
gptkbp:clinical_trial gptkb:pneumonia
ongoing
eczema
failure to thrive
skin infections
hepatosplenomegaly
osteomyelitis
gptkbp:complications gptkb:disease
gptkb:Oncology
abscesses
gptkbp:condition gptkb:Chronic_Granulomatous_Disease
gptkb:immunotherapy
gptkb:Hyper-Ig_E_syndrome
gptkbp:diagnosis blood tests
family history
clinical history
laboratory findings
gptkbp:first_described_by 1950s
gptkbp:gender_predominance male
gptkbp:genetic_studies available
recommended
important for families
https://www.w3.org/2000/01/rdf-schema#label X-linked Chronic Granulomatous Disease
gptkbp:inherits_from X-linked recessive
gptkbp:is_involved_in available
gptkbp:lifespan variable
gptkbp:pathway defective NADPH oxidase
gptkbp:prevalence rare
gptkbp:public_awareness ongoing
gptkbp:registration available
gptkbp:research_focus gptkb:gene_therapy
gptkb:immunotherapy
new antibiotics
gptkbp:research_institutes focused on infectious diseases
focused on genetics
focused on immunology
gptkbp:symptoms recurrent infections
granuloma formation
gptkbp:treatment gptkb:gene_therapy
gptkb:interferon-gamma
antibiotics
hematopoietic stem cell transplantation
prophylactic antibiotics
surgery for abscesses
gptkbp:bfsParent gptkb:CYBA
gptkbp:bfsLayer 6