International audienceCutaneous lesions described as chilblain lupus occur in the context of familial chilblain lupus or Aicardi-Goutières syndrome. To date, seven genes related to Aicardi-Goutières syndrome have been described. The most recently described encodes the cytosolic double-stranded RNA receptor IFIH1 (also known as MDA5), a key component of the antiviral type I interferon-mediated innate immune response. Enhanced type I interferon signalling secondary to gain-of-function mutations in IFIH1 can result in a range of neuroinflammatory phenotypes including classical Aicardi-Goutières syndrome. It is of note that none of the patients with a neurological phenotype so far described with mutations in this gene was reported to demonstrat...
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RN...
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RN...
Aicardi-Goutières syndrome (AGS) is a genetically determined early onset encephalopathy characterize...
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimula...
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimula...
Aicardi-Goutières syndrome (AGS) is a rare, genetically determined early-onset progressive encephalo...
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spec...
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spec...
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimula...
Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characteriz...
Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characteriz...
Pathogenic-activating variants of interferon induced with Helicase C domain 1 (IFIH1) cause Singleto...
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RN...
International audienceType I interferonopathies are a group of Mendelian disorders characterized by ...
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RN...
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RN...
Aicardi-Goutières syndrome (AGS) is a genetically determined early onset encephalopathy characterize...
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimula...
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimula...
Aicardi-Goutières syndrome (AGS) is a rare, genetically determined early-onset progressive encephalo...
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spec...
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spec...
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimula...
Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characteriz...
Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characteriz...
Pathogenic-activating variants of interferon induced with Helicase C domain 1 (IFIH1) cause Singleto...
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RN...
International audienceType I interferonopathies are a group of Mendelian disorders characterized by ...
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RN...
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RN...
Aicardi-Goutières syndrome (AGS) is a genetically determined early onset encephalopathy characterize...