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Chilblain lupus

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https://www.readbyqxmd.com/read/28919362/a-homozygote-trex1-mutation-in-two-siblings-with-different-phenotypes-chilblains-and-cerebral-vasculitis
#1
Rabia Miray Kisla Ekinci, Sibel Balci, Atil Bisgin, Derya Ufuk Altintas, Mustafa Yılmaz
Three prime repair exonuclease 1 degrades single and double stranded DNA with 3'-5' nuclease activity and its mutations are related to type 1 IFN mediated autoinflammation due to accumulated intracellular nucleic acids. To date, several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome, familial chilblain lupus, retinal vasculopathy-cerebral leukodystrophy have been reported with TREX1 mutations. Chilblain lupus is a skin disease characterized by blue-reddish coloring, swelling or ulcers on acral regions of body such as fingertips, heels, nose and auricles...
September 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28844088/familial-chilblain-lupus-what-can-we-learn-from-type-i-interferonopathies
#2
REVIEW
Christoph Fiehn
PURPOSE OF REVIEW: Familial chilblain lupus belongs to the group of type I interferonopathies and is characterized by typical skin manifestations and acral ischaemia. This review aims to give an overview of clinical signs and the pathophysiological mechanisms. RECENT FINDINGS: There are several mutations that can lead to this autosomal dominant disease. Most frequent is a mutation of the gene for TREX-1. However, as well cases of families with mutations in the SAMHD1 gene and, recently, with one for the gene that codes for the protein stimulator of interferon genes have been described...
August 26, 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28808969/methods-of-assessing-sting-activation-and-trafficking
#3
Vladislav Pokatayev, Nan Yan
The signaling adapter protein STING is crucial for the host immune response to cytosolic DNA and cyclic dinucleotides. Under basal conditions, STING resides on the endoplasmic reticulum (ER ) , but upon activation, it traffics through secretory pathway to cytoplasmic vesicles, where STING activates downstream immune signaling. Classical STING activation and trafficking are triggered by binding of cyclic dinucleotide ligands. STING signaling can also be activated by gain-of-function mutations that lead to constitutive trafficking of STING...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28770006/categorisation-of-foot-complaints-in-systemic-lupus-erythematosus-sle-from-a-new-zealand-cohort
#4
Simon J Otter, Maheswaran Rohan, Kevin A Davies, Sunil Kumar, Peter Gow, Nicola Dalbeth, Michael Corkill, Sam Panthakalam, Keith Rome
BACKGROUND: Foot complaints have been shown to be common in systemic lupus erythematosus (SLE) and heterogeneous in nature. We aimed to categorize self-reported foot complaints in people with SLE and foot symptoms. METHODS: A self-administered validated questionnaire was posted to 406 people with SLE attending adult rheumatology clinics across three health boards in Auckland, New Zealand. In addition to foot pain, vascular complaints, dermatological lesions and neurological symptoms were included in the analysis...
2017: Journal of Foot and Ankle Research
https://www.readbyqxmd.com/read/28719438/comparative-analysis-of-chilblain-lupus-erythematosus-and-idiopathic-perniosis-histopathologic-features-and-immunohistochemistry-for-cd123-and-cd30
#5
Michael L Wang, May P Chan
Distinction of chilblain lupus erythematosus (CLE) from idiopathic perniosis (IP) could predict an underlying connective tissue disease; however, histopathologic discrimination of the two is difficult. Increased CD123 plasmacytoid dendritic cells and CD30 lymphocytes have been demonstrated in various forms of cutaneous lupus erythematosus and IP, respectively. To our knowledge, CD123 and CD30 have not been examined in CLE. Our objective was to identify helpful histopathologic and immunohistochemical features in distinguishing CLE and IP...
July 14, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28389709/-familial-chilblain-lupus-type-1-interferonopathy-with-model-character
#6
REVIEW
C Fiehn
Familial chilblain lupus belongs to the group of type 1 interferonopathies and is particularly characterized by typical skin manifestations and ischemia of the acra. There are various mutations that can lead to this autosomal dominant disease. A mutation in the TREX-1 gene has been most frequently found; however, families with mutations in the SAMHD1 gene and recently in the gene which codes for the stimulator of interferon genes (STING) protein were also described. A common feature of these genetic defects is that they are all involved in the process of detection of intracellular free DNA, which as a result leads to increased production of type 1 interferons and the induced gene products...
May 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28334850/aicardi-gouti%C3%A3-res-syndrome-protein-trex1-suppresses-l1-and-maintains-genome-integrity-through-exonuclease-independent-orf1p-depletion
#7
Peng Li, Juan Du, John L Goodier, Jingwei Hou, Jian Kang, Haig H Kazazian, Ke Zhao, Xiao-Fang Yu
Maintaining genome integrity is important for cells and damaged DNA triggers autoimmunity. Previous studies have reported that Three-prime repair exonuclease 1(TREX1), an endogenous DNA exonuclease, prevents immune activation by depleting damaged DNA, thus preventing the development of certain autoimmune diseases. Consistently, mutations in TREX1 are linked with autoimmune diseases such as systemic lupus erythematosus, Aicardi-Goutières syndrome (AGS) and familial chilblain lupus. However, TREX1 mutants competent for DNA exonuclease activity are also linked to AGS...
May 5, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28322475/a-case-of-chilblain-lupus-erythematosus-with-lupus-erythematosus-lichen-planus-overlap-syndrome
#8
LETTER
T Komori, A Otsuka, T Honda, Y Kaku, K Kabashima
No abstract text is available yet for this article.
March 21, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28112801/efficacy-and-comparison-of-antimalarials-in-cutaneous-lupus-erythematosus-subtypes-a-systematic-review-and-meta-analysis
#9
F Chasset, J-D Bouaziz, N Costedoat-Chalumeau, C Francès, L Arnaud
BACKGROUND: The antimalarials (AMs) hydroxychloroquine (HCQ) and chloroquine (CQ) have demonstrated variable cutaneous response rates in cutaneous lupus erythematosus (CLE). OBJECTIVES: We sought to assess the global cutaneous response rates to HCQ and CQ, with respect to CLE subtypes, based on previously published studies. METHODS: We performed a systematic review and meta-analysis of studies published in MEDLINE, Embase and the Cochrane Library between 1965 and December 2015...
January 23, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/27892610/jak-inhibitor-ruxolitinib-inhibits-the-expression-of-cytokines-characteristic-of-cutaneous-lupus-erythematosus
#10
LETTER
Anna Sophie Klaeschen, Dominik Wolf, Peter Brossart, Thomas Bieber, Joerg Wenzel
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. We investigated the in vivo expression of phospho-JAK2 in CLE skin samples as well as the immunomodulatory in vitro effect of ruxolitinib in cultured immortalized keratinocytes and in a 3D human epidermis model (epiCS). Our results demonstrate that ruxolitinib significantly decreases the production of CLE-typical cytokines (CXCL10, CXCL9, MxA) and might be a promising drug for future clinical studies in patients with CLE and related autoimmune skin diseases...
August 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/27566796/familial-chilblain-lupus-due-to-a-gain-of-function-mutation-in-sting
#11
Nadja König, Christoph Fiehn, Christine Wolf, Max Schuster, Emanuel Cura Costa, Victoria Tüngler, Hugo Ariel Alvarez, Osvaldo Chara, Kerstin Engel, Raphaela Goldbach-Mansky, Claudia Günther, Min Ae Lee-Kirsch
OBJECTIVES: Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus caused by loss-of-function mutations in the nucleases TREX1 or SAMHD1. In a family without TREX1 or SAMHD1 mutation, we sought to determine the causative gene and the underlying disease pathology. METHODS: Exome sequencing was used for disease gene identification. Structural analysis was performed by homology modelling and docking simulations. Type I interferon (IFN) activation was assessed in cells transfected with STING cDNA using an IFN-β reporter and Western blotting...
February 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27105770/severe-recalcitrant-cutaneous-manifestations-in-systemic-lupus-erythematosus-successfully-treated-with-fumaric-acid-esters
#12
A M Saracino, C H Orteu
Fumaric acid esters (FAEs) have proven efficacy in the treatment of psoriasis and have been in use for decades. More recently, as their mechanism of action and abundant immunomodulatory effects become clearer, the potential benefits of treating other inflammatory skin conditions using FAEs are increasingly being recognized. The use of FAEs as combination systemic therapy has not been well studied and data are lacking regarding the safety and efficacy of this type of therapy. In this case report, three patients with severe, extensive and recalcitrant cutaneous manifestations of systemic lupus erythematosus (SLE) (one case of disseminated discoid lesions and two with severe chilblain lesions) were treated with Fumaderm(®) (containing the FAE dimethylfumarate and monoethylhydrogen fumarate salts), after failing to respond to a multitude of other monotherapies and combination therapies...
February 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/26916391/jak1-2-inhibitor-ruxolitinib-controls-a-case-of-chilblain-lupus-erythematosus
#13
Joerg Wenzel, Nadine van Holt, Judith Maier, Maria Vonnahme, Thomas Bieber, Dominik Wolf
No abstract text is available yet for this article.
June 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/26885604/cold-associated-perniosis-of-the-thighs-equestrian-type-chilblain-a-reappraisal-based-on-a-clinicopathologic-and-immunohistochemical-study-of-6-cases
#14
Gerardo Ferrara, Lorenzo Cerroni
Cold-associated perniosis of the thighs ("equestrian cold panniculitis") is an unusual and still enigmatic entity. The authors retrieved 6 cases for a re-evaluation of their clinicopathologic features and for an immunohistochemical assessment with antibodies anti-CD3, anti-CD20, and anti-CD123. All patients were women, aged 17-45 years. One of them had elevated antinuclear antibody titers. Available anamnestic data confirmed the triggering role of prolonged/intermittent exposure to cold (not necessarily for equestrian activities)...
October 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/26584874/failure-to-thrive-interstitial-lung-disease-and-progressive-digital-necrosis-with-onset-in-infancy
#15
Justin Chia, Fehime Kara Eroglu, Seza Özen, Dicle Orhan, Gina Montealegre-Sanchez, Adriana A de Jesus, Raphaela Goldbach-Mansky, Edward W Cowen
Key teaching points • SAVI is a recently described interferonopathy resulting from constitutive action of STING and up-regulation of IFN-β signaling. • SAVI is characterized by facial erythema with telangiectasia, acral/cold-sensitive tissue ulceration and amputations, and interstitial lung disease. It has overlapping features with Aicardi-Goutières syndrome and familial chilblain lupus. • Traditional immunosuppressive medications and biologic therapies appear to be of limited benefit, but JAK inhibitors may impact disease progression...
January 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/26363997/-type%C3%A2-i-interferonopathies
#16
J Munoz, M Marque, M Dandurand, L Meunier, Y-J Crow, D Bessis
Type I interferonopathies are a group of Mendelian disorders characterized by a common physiopathology: the up-regulation of type I interferons. To date, interferonopathies include Aicardi-Goutières syndrome, familial chilblain lupus, spondyenchondromatosis, PRoteasome-associated auto-inflammatory syndrome (PRAAS) and Singleton-Merten syndrome. These diseases present phenotypic overlap including cutaneous features like chilblain lupus, that can be inaugural or present within the first months of life. This novel set of inborn errors of immunity is evolving rapidly, with recognition of new diseases and genes...
November 2015: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/26284909/unusual-cutaneous-features-associated-with-a-heterozygous-gain-of-function-mutation-in-ifih1-overlap-between-aicardi-gouti%C3%A3-res-and-singleton-merten-syndromes
#17
A-C Bursztejn, T A Briggs, Y del Toro Duany, B H Anderson, J O'Sullivan, S G Williams, C Bodemer, S Fraitag, F Gebhard, B Leheup, I Lemelle, A Oojageer, E Raffo, E Schmitt, G I Rice, S Hur, Y J Crow
Cutaneous 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...
December 2015: British Journal of Dermatology
https://www.readbyqxmd.com/read/26223655/cutting-edge-cgas-is-required-for-lethal-autoimmune-disease-in-the-trex1-deficient-mouse-model-of-aicardi-gouti%C3%A3-res-syndrome
#18
Elizabeth E Gray, Piper M Treuting, Joshua J Woodward, Daniel B Stetson
Detection of intracellular DNA triggers activation of the stimulator of IFN genes-dependent IFN-stimulatory DNA (ISD) pathway, which is essential for antiviral immune responses. However, chronic activation of this pathway is implicated in autoimmunity. Mutations in TREX1, a 3' repair exonuclease that degrades cytosolic DNA, cause Aicardi-Goutières syndrome and chilblain lupus. Trex1 (-/-) mice develop lethal, IFN-driven autoimmune disease that is dependent on activation of the ISD pathway, but the DNA sensors that detect the endogenous DNA that accumulates in Trex1 (-/-) mice have not been defined...
September 1, 2015: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/25992765/stimulator-of-interferon-genes-associated-vasculopathy-with-onset-in-infancy-a-mimic-of-childhood-granulomatosis-with-polyangiitis
#19
Justine Munoz, Michel Rodière, Nadia Jeremiah, Frédéric Rieux-Laucat, Anthony Oojageer, Gillian I Rice, Flore Rozenberg, Yanick J Crow, Didier Bessis
IMPORTANCE: The type I interferonopathies comprise a recently recognized group of mendelian diseases characterized by an upregulation of type I interferon signaling. These monogenic phenotypes include classic Aicardi-Goutières syndrome and syndromic forms of systemic lupus erythematosus, including familial chilblain lupus and spondyloenchondrodysplasia. Dermatologic features provide a major diagnostic clue to this disease grouping, as exemplified by the recently described stimulator of interferon genes-associated vasculopathy with onset in infancy (SAVI) caused by gain-of-function mutations in TMEM173...
August 2015: JAMA Dermatology
https://www.readbyqxmd.com/read/25848017/exonuclease-trex1-degrades-double-stranded-dna-to-prevent-spontaneous-lupus-like-inflammatory-disease
#20
Jessica L Grieves, Jason M Fye, Scott Harvey, Jason M Grayson, Thomas Hollis, Fred W Perrino
The TREX1 gene encodes a potent DNA exonuclease, and mutations in TREX1 cause a spectrum of lupus-like autoimmune diseases. Most lupus patients develop autoantibodies to double-stranded DNA (dsDNA), but the source of DNA antigen is unknown. The TREX1 D18N mutation causes a monogenic, cutaneous form of lupus called familial chilblain lupus, and the TREX1 D18N enzyme exhibits dysfunctional dsDNA-degrading activity, providing a link between dsDNA degradation and nucleic acid-mediated autoimmune disease. We determined the structure of the TREX1 D18N protein in complex with dsDNA, revealing how this exonuclease uses a novel DNA-unwinding mechanism to separate the polynucleotide strands for single-stranded DNA (ssDNA) loading into the active site...
April 21, 2015: Proceedings of the National Academy of Sciences of the United States of America
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