Autoinflammatory diseases

GPTKB entity

Statements (48)
Predicate Object
gptkbp:instanceOf gptkb:disease
immune system disorder
gptkbp:affects gptkb:skin
gastrointestinal tract
eyes
joints
immune system
serosal membranes
gptkbp:canBe hereditary
sporadic
gptkbp:cause amyloidosis
organ damage
gptkbp:causedBy dysregulation of innate immune system
gptkbp:characterizedBy recurrent episodes of inflammation
gptkbp:diagnosedBy clinical evaluation
genetic testing
gptkbp:distinctFrom autoimmune diseases
autoimmune diseases by lack of antigen-specific T cells
autoimmune diseases by lack of high-titer autoantibodies
gptkbp:example gptkb:Behçet's_disease
gptkb:Familial_Mediterranean_fever
gptkb:Still's_disease
gptkb:Blau_syndrome
Cryopyrin-associated periodic syndromes
Hyper-IgD syndrome
PFAPA syndrome
TRAPS
gptkbp:fieldOfStudy immunology
rheumatology
gptkbp:firstDescribed late 20th century
https://www.w3.org/2000/01/rdf-schema#label Autoinflammatory diseases
gptkbp:relatedTo gptkb:MEFV_gene
gptkb:TNFRSF1A_gene
genetic mutations
NLRP3 gene
gptkbp:studiedBy rheumatologists
immunologists
gptkbp:symptom fever
abdominal pain
joint pain
chest pain
rash
gptkbp:treatment corticosteroids
biologic agents
colchicine
IL-1 inhibitors
gptkbp:bfsParent gptkb:P03951
gptkbp:bfsLayer 8