Familial chilblain lupus caused by an activating mutation in STING
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منابع مشابه
Familial chilblain lupus caused by an activating mutation in STING
Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus characterized by coldinduced cutaneous lesions at acral location. It is caused by loss-of-function mutations in the nucleic acid metabolizing enzymes TREX1 or SAMHD1. Gain-of-function mutations in STING (stimulator of Interferon genes) have been described in an infancy-onset autoinflammatory syndrome with fever, infla...
متن کاملInherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.
Innate immunity to viral infection involves induction of the type I IFN response; however, dysfunctional regulation of this pathway leads to inappropriate inflammation. Here, we evaluated a nonconsanguineous family of mixed European descent, with 4 members affected by systemic inflammatory and autoimmune conditions, including lupus, with variable clinical expression. We identified a germline do...
متن کاملFamilial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.
Chilblain lupus erythematosus is a rare form of cutaneous lupus erythematosus characterized by bluish red infiltrates in acral locations of the body mostly affecting middle-aged women. We recently described a familial form of chilblain lupus manifesting in early childhood caused by a heterozygous mutation in the TREX1 gene, which encodes a 3'-5' DNA exonuclease. Thus, familial chilblain lupus r...
متن کاملPhenotypic variation in familial chilblain lupus (FCL) and Aicardi-Goutières syndrome (AGS) associated with TREX1 mutation in 4 family members
Results The index case was a 10 year old Afro-Caribbean boy who initially presented with a non-progressive developmental delay and severe chilblains (the chilblains improved with methotrexate). He developed transient acute ataxia and flattened affect, with visual and auditory hallucinations. Parotid swelling, arthritis and proximal myopathy were noted, but autoantibodies were negative and compl...
متن کاملRAPID COMMUNICATIONS A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus
We recently described a novel autosomal-dominant genodermatosis, termed familial chilblain lupus, and mapped its genetic locus to chromosome 3p21. Familial chilblain lupus manifests in early childhood with ulcerating acral skin lesions and is associated with arthralgias and circulating antinuclear antibodies. In this study, we report the identification of a heterozygous missense mutation (D18N)...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2015
ISSN: 1546-0096
DOI: 10.1186/1546-0096-13-s1-o62