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