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STING-associated vasculopathy with onset in infancy

STING-associated vasculopathy with onset in infancy is an autosomal dominant autoinflammatory disorder caused by mutations of the TMEM173 gene (STimmulator of INterferne Genes). Tthe disease is characterized by small vessel vasculopythy with skin, joint, and pulmonary damage. The onset is in childhood when patients present with low-grade fever, cough, and failure to thrive.

Systematic

Autoinflammatory disease
Autoinflammation with arthritis and dyskeratosis
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
CARD14 associated psoriasis
Chronic recurrent multifocal osteomyelitis
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
F12
Familial cold autoinflammatory syndromes
Hereditary pediatric Behçet-like disease
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Inflammatory bowel disease
Interleukin 10 deficiency
Interleukin 10 receptor deficiency
Interleukin-1 receptor antagonist deficiency
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Proteasome-associated autoinflammatory syndrome
Pseudo-TORCH-Syndrom
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
SH3BP2 deficienc with multilocular cysticy disease of the mandibles
STING-associated vasculopathy with onset in infancy
TMEM173
Singleton-Merten syndrome
Susceptibility to malignant hyperthermia 5
Susceptibility to rheumatoid arthritis
Systemic autoinflammatory disease
Systemic-onset juvenile idiopathic arthritis
TNF receptor-associated periodic syndrome

References:

1.

Liu Y et. al. (2014) Activated STING in a vascular and pulmonary syndrome.

external link
2.

Jeremiah N et. al. (2014) Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.

external link
Update: Aug. 14, 2020
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