Factor I mutations

GPTKB entity

Statements (60)
Predicate Object
gptkbp:instance_of gptkb:physicist
gptkbp:acquired functional assays
gptkbp:affects immune response
patient quality of life
complement system
blood coagulation
gptkbp:applies_to personalized medicine approaches
clinical management strategies
gptkbp:associated_with C3 glomerulopathy
gptkbp:can_be inflammatory responses
complement component deficiencies
dysregulation of immune system
gptkbp:can_lead_to chronic kidney disease
diagnostic challenges
increased susceptibility to infections
recurrent abdominal pain
reduced Factor I activity
gptkbp:caused_by edema
thrombotic microangiopathy
hemolytic uremic syndrome
variations in the SERPIN G1 gene
gptkbp:descendant in an autosomal dominant manner
https://www.w3.org/2000/01/rdf-schema#label Factor I mutations
gptkbp:influence treatment outcomes
gptkbp:is_affected_by environmental factors
genetic testing
gptkbp:is_associated_with chronic inflammation
autoimmune disorders
systemic complications
increased risk of thrombosis
poor prognosis in some cases
gptkbp:is_characterized_by recurrent infections
variable expressivity
gptkbp:is_essential_for understanding complement biology
gptkbp:is_involved_in complement activation pathways
pathogenesis of glomerulonephritis
research on complement inhibitors
gptkbp:is_linked_to gptkb:systemic_lupus_erythematosus
complement-mediated diseases
nephritis
genetic counseling needs
complement factor deficiencies
gptkbp:is_part_of gptkb:hereditary_angioedema
complement system disorders
diagnostic criteria for diseases
gptkbp:is_recognized_by gptkb:municipality
familial cases
next-generation sequencing.
gptkbp:is_related_to C4b-binding protein deficiency
gptkbp:is_studied_in animal models
clinical research
gene therapy approaches
gptkbp:managed_by plasma infusions
gptkbp:recognizes serum complement levels
gptkbp:requires complement replacement therapy
gptkbp:resulted_in uncontrolled complement activation
gptkbp:significance understanding immune deficiencies
gptkbp:treatment immunosuppressive therapy
gptkbp:bfsParent gptkb:Atypical_Hemolytic_Uremic_Syndrome
gptkbp:bfsLayer 8