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Chronic Granulomatous Disease
URI:
https://gptkb.org/entity/Chronic_Granulomatous_Disease
GPTKB entity
Statements (49)
Predicate
Object
gptkbp:instanceOf
immunodeficiency
rare disease
gptkbp:abbreviation
gptkb:CGD
gptkbp:affects
adults
children
phagocytes
gptkbp:category
genetic disorder
immune system disorder
gptkbp:cause
recurrent infections
granuloma formation
gptkbp:causedBy
genetic disorder
gptkbp:characterizedBy
defective NADPH oxidase
gptkbp:complication
autoimmune disorders
inflammatory bowel disease
liver abscess
lung granulomas
gptkbp:diagnosedBy
gptkb:dihydrorhodamine_(DHR)_test
gptkb:nitroblue_tetrazolium_(NBT)_test
gptkbp:firstDescribed
1957
https://www.w3.org/2000/01/rdf-schema#label
Chronic Granulomatous Disease
gptkbp:inheritance
autosomal recessive
X-linked
gptkbp:involvedIn
gptkb:CYBA
gptkb:NCF1
gptkb:NCF2
gptkb:NCF4
gptkb:CYBB
gptkbp:MeSH_ID
D006061
gptkbp:mostCommonInheritance
X-linked recessive
gptkbp:namedFor
gptkb:Robert_A._Good
gptkbp:OMIM
306400
gptkbp:otherInheritance
autosomal recessive
gptkbp:prevalence
1 in 200,000 to 250,000 live births
gptkbp:riskFactor
gptkb:Aspergillus_infection
gptkb:Burkholderia_cepacia_infection
gptkb:Serratia_marcescens_infection
gptkb:Staphylococcus_aureus_infection
Nocardia infection
gptkbp:symptom
gptkb:pneumonia
skin infections
osteomyelitis
lymphadenitis
abscesses
gptkbp:treatment
gptkb:interferon_gamma
hematopoietic stem cell transplantation
antibiotic prophylaxis
antifungal prophylaxis
gptkbp:bfsParent
gptkb:CGD
gptkbp:bfsLayer
6