X-linked chronic granulomatous disease
GPTKB entity
Statements (129)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:affects |
immune system
|
| gptkbp:associated_with |
NADPH oxidase deficiency
|
| gptkbp:caused_by |
mutation in the CYBB gene
|
| gptkbp:clinical_trial |
available
|
| gptkbp:complications |
chronic lung disease
hepatosplenomegaly granuloma formation |
| gptkbp:condition |
other forms of chronic granulomatous disease
|
| gptkbp:diagnosis |
blood tests
clinical history and laboratory findings |
| gptkbp:first_described_by |
in the 1950s
|
| gptkbp:gender_predominance |
male
|
| gptkbp:genetic_studies |
available
recommended |
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked chronic granulomatous disease
|
| gptkbp:inherits_from |
X-linked recessive
|
| gptkbp:lifespan |
varies
|
| gptkbp:pathway |
defective reactive oxygen species production
|
| gptkbp:prevalence |
rare
|
| gptkbp:research |
ongoing
|
| gptkbp:symptoms |
gptkb:disease
gptkb:chronic_fatigue_syndrome gptkb:anemia gptkb:pneumonia fatigue weight loss abdominal pain fever gastrointestinal bleeding joint pain fungal infections sepsis failure to thrive thrombocytopenia abscesses skin infections autoimmune disorders lymphadenopathy neutropenia chronic sinusitis hypogammaglobulinemia chronic ear infections osteomyelitis pulmonary nodules dental abscesses chronic diarrhea chronic inflammatory conditions chronic viral infections hypergammaglobulinemia elevated inflammatory markers recurrent bacterial infections chronic addiction disorders chronic assessment disorders chronic behavioral disorders chronic bone infections chronic cardiovascular disorders chronic care disorders chronic cognitive disorders chronic dependency disorders chronic dermatological disorders chronic diagnosis disorders chronic dietary disorders chronic endocrine disorders chronic environmental disorders chronic evaluation disorders chronic exercise disorders chronic eye infections chronic fitness disorders chronic fitness management disorders chronic fitness support disorders chronic fitness therapy disorders chronic fitness treatment disorders chronic follow-up disorders chronic fungal infections chronic health disorders chronic health management disorders chronic health support disorders chronic health therapy disorders chronic health treatment disorders chronic hematological disorders chronic hepatic disorders chronic joint infections chronic lifestyle disorders chronic lifestyle management disorders chronic lifestyle support disorders chronic lifestyle therapy disorders chronic lifestyle treatment disorders chronic management disorders chronic metabolic disorders chronic monitoring disorders chronic musculoskeletal disorders chronic neurological disorders chronic occupational disorders chronic oncological disorders chronic otitis media chronic outcome disorders chronic parasitic infections chronic prognosis disorders chronic psychological disorders chronic quality of life disorders chronic recovery disorders chronic rehabilitation disorders chronic renal disorders chronic reproductive disorders chronic respiratory infections chronic sensory disorders chronic skin infections chronic skin lesions chronic sleep disorders chronic social disorders chronic stress disorders chronic support disorders chronic systemic infections chronic therapy disorders chronic trauma disorders chronic treatment disorders chronic urinary tract infections chronic wellness disorders chronic wellness management disorders chronic wellness support disorders chronic wellness therapy disorders chronic wellness treatment disorders chronic withdrawal disorders |
| gptkbp:treatment |
gptkb:interferon-gamma
antibiotics bone marrow transplant |
| gptkbp:bfsParent |
gptkb:cytochrome_b-245_beta_chain
|
| gptkbp:bfsLayer |
8
|