chronic granulomatous disease
GPTKB entity
Statements (46)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
immunodeficiency |
| gptkbp:abbreviation |
gptkb:CGD
|
| gptkbp:affects |
immune system
|
| gptkbp:causedBy |
defective phagocyte NADPH oxidase
|
| gptkbp:complication |
autoimmune disease
chronic inflammation granuloma formation in GI tract obstructive granulomas |
| gptkbp:eponymOf |
Bridges–Good syndrome
Quie syndrome |
| gptkbp:firstDescribed |
1957
|
| gptkbp:frequency |
1 in 200,000 to 250,000 live births
|
| gptkbp:hasCommonPathogens |
gptkb:Serratia_marcescens
gptkb:Staphylococcus_aureus gptkb:Burkholderia_cepacia Aspergillus species Nocardia species |
| gptkbp:hasDiagnosticMethod |
gptkb:nitroblue_tetrazolium_(NBT)_test
dihydrorhodamine (DHR) flow cytometry |
| gptkbp:hasGeneticInheritance |
X-linked recessive
autosomal recessive |
| gptkbp:hasOrphanetID |
ORPHA:357
|
| gptkbp:hasRelatedDisorder |
Mendelian susceptibility to mycobacterial disease
|
| https://www.w3.org/2000/01/rdf-schema#label |
chronic granulomatous disease
|
| gptkbp:ICD-10_code |
D71
|
| gptkbp:inheritance |
autosomal recessive
X-linked |
| gptkbp:mortalityRate |
decreased life expectancy
|
| gptkbp:mutationAssociatedWith |
gptkb:CYBA
gptkb:NCF1 gptkb:NCF2 gptkb:NCF4 gptkb:CYBB |
| gptkbp:OMIM |
306400
|
| gptkbp:pathology |
defective respiratory burst in phagocytes
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
granuloma formation
recurrent bacterial infections recurrent fungal infections |
| gptkbp:treatment |
hematopoietic stem cell transplantation
antibiotic prophylaxis antifungal prophylaxis interferon gamma therapy |
| gptkbp:bfsParent |
gptkb:interferon-gamma
|
| gptkbp:bfsLayer |
6
|