Chilblain lupus 1

A hereditary, autosomal dominant form of systemic lupus erythematosus (OMIM: 152700) that is characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) and is precipitated by cold and wet exposure. Mutations in the TREX1 gene have been identified. OMIM: 610448

Also Known As:

Networked: 60 relevant articles (3 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Bites and Stings (Sting)
2.	chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
3.	Discoid Lupus Erythematosus
4.	malar rash
5.	Systemic Lupus Erythematosus (Libman-Sacks Disease)

Experts

1.	Perrino, Fred W: 7 articles (01/2019 - 05/2007)
2.	Lee-Kirsch, Min Ae: 6 articles (01/2019 - 05/2007)
3.	Hollis, Thomas: 6 articles (04/2015 - 05/2007)
4.	Harvey, Scott: 5 articles (04/2015 - 05/2007)
5.	Engel, Kerstin: 4 articles (01/2019 - 05/2007)
6.	Günther, Claudia: 4 articles (01/2019 - 06/2013)
7.	Wolf, Christine: 3 articles (01/2019 - 04/2015)
8.	Balci, Sibel: 2 articles (09/2020 - 12/2017)
9.	Bisgin, Atil: 2 articles (09/2020 - 12/2017)
10.	Kisla Ekinci, Rabia Miray: 2 articles (09/2020 - 12/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chilblain lupus 1:

1.	ruxolitinibIBA 01/01/2016 - "JAK1/2 Inhibitor Ruxolitinib Controls a Case of Chilblain Lupus Erythematosus." 01/01/2017 - "This study was stimulated by the clinical observation of a rapid response of a chilblain lupus patient to treatment with JAK1/2-kinase inhibitor ruxolitinib. " 06/01/2021 - "Seventeen open-label studies assessing the efficacy of ruxolitinib, baricitinib, or tofacitinib reported variable responses in patients with chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) and related syndromes, stimulator of IFN genes [STING]-associated vasculopathy with onset in infancy (SAVI), familial chilblain lupus (FCh-L), gain-of-function mutations of STAT1 (GOF-STAT1), or Aicardi-Goutiéres syndrome. "
2.	tofacitinibIBA 04/01/2022 - "Tofacitinib for refractory chilblain lupus erythematosus." 06/01/2021 - "Seventeen open-label studies assessing the efficacy of ruxolitinib, baricitinib, or tofacitinib reported variable responses in patients with chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) and related syndromes, stimulator of IFN genes [STING]-associated vasculopathy with onset in infancy (SAVI), familial chilblain lupus (FCh-L), gain-of-function mutations of STAT1 (GOF-STAT1), or Aicardi-Goutiéres syndrome. "
3.	baricitinibIBA 01/01/2019 - "In this case series, 3 patients with familial chilblain lupus due to TREX1 mutation underwent treatment with baricitinib for 3 months. " 01/01/2019 - "To evaluate the clinical response to the Janus kinase inhibitor baricitinib in familial chilblain lupus and assess the effect of cold on patient fibroblasts. " 06/01/2021 - "Seventeen open-label studies assessing the efficacy of ruxolitinib, baricitinib, or tofacitinib reported variable responses in patients with chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) and related syndromes, stimulator of IFN genes [STING]-associated vasculopathy with onset in infancy (SAVI), familial chilblain lupus (FCh-L), gain-of-function mutations of STAT1 (GOF-STAT1), or Aicardi-Goutiéres syndrome. "
4.	Mycophenolic Acid (Cellcept)FDA LinkGeneric 01/01/2017 - "Chilblain lupus erythematosus treated successfully with mycophenolate mofetil." 02/01/2001 - "Chilblain lupus erythematosus Hutchinson: successful treatment with mycophenolate mofetil."
5.	AntibodiesIBA 12/01/2021 - "Association of chilblain lupus and anti-Ro/SSA and anti-La/SSB antibodies: a study of 30 cases." 01/01/1999 - "Chilblain lupus erythematosus is associated with antibodies to SSA/Ro." 01/01/1999 - "Chilblain lupus erythematosus is associated with antibodies to SSA/Ro." 03/01/2012 - "Although it is infrequent, chilblain lupus forms part of the spectrum of TNF-α antagonists-induced lupus erythematosus; usually is limited to skin without progression to systemic lupus erythematosus; presents ANA, anti-DNA, and antinucleosome antibodies positivity as more frequent immunological alterations; and responds appropriately to the specific treatment, TNF-α antagonists withdrawal being not necessary in almost all cases." 05/01/2008 - "Only three patients developed clinical manifestations (chilblain lupus) possibly related to these auto-antibodies, two with infliximab and one with etanercept. "
6.	exodeoxyribonuclease IIBA 05/01/2007 - "In this study, we report the identification of a heterozygous missense mutation (D18N) in TREX1 encoding the 3'-5'repair exonuclease 1 in affected individuals of the family with chilblain lupus. " 04/01/2015 - "Familial chilblain lupus is usually caused by a mutation in TREX1 (3' repair exonuclease 1). " 01/01/2019 - "Familial chilblain lupus is a monogenic autosomal dominant form of cutaneous lupus erythematosus that in most cases is caused by mutations in the 3 prime repair exonuclease 1 (TREX1). " 04/01/2015 - "Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1)." 12/01/2012 - "Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1."
7.	Phosphotransferases (Kinase)IBA 01/01/2017 - "This study was stimulated by the clinical observation of a rapid response of a chilblain lupus patient to treatment with JAK1/2-kinase inhibitor ruxolitinib. "
8.	Retinaldehyde (Retinal)IBA 04/01/2015 - "Here we briefly describe the human diseases so-far associated with mutations in TREX1, which include Aicardi-Goutières syndrome, familial chilblain lupus, systemic lupus erythematosus and retinal vasculopathy with cerebral leukodystrophy. " 06/01/2009 - "Other groups have shown that the syndromes of familial chilblain lupus as well as systemic lupus erythematosus, and the distinct neurovascular disorder retinal vasculopathy with cerebral leukodystrophy, can be caused by dominant mutations at different sites within the TREX1 gene." 06/15/2008 - "Aicardi-Goutières syndrome (AGS), Systemic Lupus Erythematosus (SLE), Familial Chilblain Lupus (FCL) and Retinal Vasculopathy and Cerebral Leukodystrophy (RVCL) {a new term encompassing three independently described conditions with a common etiology--Cerebroretinal Vasculopathy (CRV), Hereditary Vascular Retinopathy (HVR) and Hereditary Endotheliopathy, Retinopathy and Nephropathy (HERNS)}--have previously been regarded as distinct entities. " 09/01/2020 - "Several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome (AGS), familial chilblain lupus (FCL), and retinal vasculopathy-cerebral leukodystrophy caused by TREX1 mutations have been reported, so far. " 01/01/2019 - "Mutations in the TREX1 gene cause a spectrum of human autoimmune diseases including Aicardi-Goutières syndrome, familial chilblain lupus, retinal vasculopathy with cerebral leukodystrophy, and are associated with systemic lupus erythematosus. "
9.	Exonucleases (3' 5' Exonuclease)IBA 04/01/2015 - "We report on a family with dominant chilblain lupus segregating a novel TREX1 mutation (c.585C>G; H195Q) within the highly conserved exonuclease (Exo) III domain. " 01/02/2012 - "Mutations within the human TREX1 3' exonuclease are associated with Aicardi-Goutières Syndrome (AGS) and familial chilblain lupus (FCL). " 09/01/2015 - "Mutations in TREX1, a 3' repair exonuclease that degrades cytosolic DNA, cause Aicardi-Goutières syndrome and chilblain lupus. " 09/01/2010 - "Chilblain lupus has been linked to the deficiency of 3'-5' repair exonuclease Trex1 that metabolizes DNA reverse-transcribed from ERV. " 01/01/2009 - "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. "
10.	DNA (Deoxyribonucleic Acid)IBA 02/01/2017 - "In a multigenerational family with five members affected with chilblain lupus, we identified a heterozygous mutation of STING, a signalling molecule in the cytosolic DNA sensing pathway. " 10/01/2022 - "In addition, we discuss systemic rheumatic diseases, including certain forms of systemic lupus erythematosus, familial chilblain lupus, and other diseases with established links to intracellular DNA-sensing pathways, and highlight the lessons learned from these examples as they apply to the development of therapies targeting these pathways." 09/01/2015 - "Mutations in TREX1, a 3' repair exonuclease that degrades cytosolic DNA, cause Aicardi-Goutières syndrome and chilblain lupus. " 09/01/2010 - "Chilblain lupus has been linked to the deficiency of 3'-5' repair exonuclease Trex1 that metabolizes DNA reverse-transcribed from ERV. " 01/01/2009 - "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. "

Therapies and Procedures

1.	Therapeutics 02/01/2017 - "These cases of SLE illustrate the potential use of FAEs in severe, disfiguring and otherwise therapy-resistant skin lesions, including, to our knowledge, the first two reported cases of FAE-treated chilblain lupus erythematosus." 07/01/2009 - "Discoid lupus erythematosus (19 cases), acute malar rash (6 cases), chilblain lupus (4 cases) showed a significant improvement with combination therapy (P = 0.009, P = 0.019, and P = 0.04, respectively). " 01/01/2022 - "Case of chilblain lupus triggered by adalimumab therapy in a patient with psoriasis." 06/01/2001 - "We describe 4 cases of SCLE, one associated with chilblain lupus, which occurred during therapy with oral terbinafine for onychomycosis. " 10/01/2022 - "In addition, we discuss systemic rheumatic diseases, including certain forms of systemic lupus erythematosus, familial chilblain lupus, and other diseases with established links to intracellular DNA-sensing pathways, and highlight the lessons learned from these examples as they apply to the development of therapies targeting these pathways."
2.	Chemical Sympathectomy 07/01/1979 - "Chilblain lupus erythematosus with response to chemical sympathectomy."