scholarly journals Familial Chilblain Lupus – A Monogenic Form of Cutaneous Lupus Erythematosus due to a Heterozygous Mutation in TREX1

Dermatology ◽  
2009 ◽  
Vol 219 (2) ◽  
pp. 162-166 ◽  
Author(s):  
C. Günther ◽  
M. Meurer ◽  
A. Stein ◽  
A. Viehweg ◽  
M.A. Lee-Kirsch
Keyword(s):  
Lupus Erythematosus ◽  
Cutaneous Lupus Erythematosus ◽  
Heterozygous Mutation ◽  
Familial Chilblain Lupus ◽  
Monogenic Form ◽  
Chilblain Lupus ◽  
Cutaneous Lupus

scholarly journals Familial Chilblain Lupus, a Monogenic Form of Cutaneous Lupus Erythematosus, Maps to Chromosome 3p

2006 ◽  
Vol 79 (4) ◽  
pp. 731-737 ◽  
Author(s):  
Min Ae Lee-Kirsch ◽  
Maolian Gong ◽  
Herbert Schulz ◽  
Franz Rüschendorf ◽  
Annette Stein ◽  
...  
Keyword(s):  
Lupus Erythematosus ◽  
Cutaneous Lupus Erythematosus ◽  
Chromosome 3P ◽  
Familial Chilblain Lupus ◽  
Monogenic Form ◽  
Chilblain Lupus ◽  
Cutaneous Lupus

Familial chilblain lupus due to a gain-of-function mutation in STING

2016 ◽  
Vol 76 (2) ◽  
pp. 468-472 ◽  
Author(s):  
Nadja König ◽  
Christoph Fiehn ◽  
Christine Wolf ◽  
Max Schuster ◽  
Emanuel Cura Costa ◽  
...  
Keyword(s):  
Lupus Erythematosus ◽  
Homology Modelling ◽  
Cutaneous Lupus Erythematosus ◽  
Janus Kinase ◽  
Heterozygous Mutation ◽  
Type I ◽  
Type I Ifn ◽  
Gain Of Function ◽  
Familial Chilblain Lupus ◽  
Chilblain Lupus

ObjectivesFamilial 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.MethodsExome 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. IFN signatures in patient blood in response to tofacitinib treatment were measured by RT-PCR of IFN-stimulated genes.ResultsIn 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. Structural and functional analyses indicate that mutant STING enhances homodimerisation in the absence of its ligand cGAMP resulting in constitutive type I IFN activation. Treatment of two affected family members with the Janus kinase (JAK) inhibitor tofacitinib led to a marked suppression of the IFN signature.ConclusionsA heterozygous gain-of-function mutation in STING can cause familial chilblain lupus. These findings expand the genetic spectrum of type I IFN-dependent disorders and suggest that JAK inhibition may be of therapeutic value.

Docetaxel-induced relapse of subacute cutaneous lupus erythematosus and chilblain lupus

2013 ◽  
Vol 11 (9) ◽  
pp. 871-874
Author(s):  
Stéphanie Lebeau ◽  
Swagata També ◽  
Mohamed A. Sallam ◽  
Alauldin Alhowaish ◽  
Christophe Tschanz ◽  
...  
Keyword(s):  
Lupus Erythematosus ◽  
Cutaneous Lupus Erythematosus ◽  
Subacute Cutaneous Lupus Erythematosus ◽  
Chilblain Lupus ◽  
Cutaneous Lupus

scholarly journals Atypical and Rare Forms of Cutaneous Lupus Erythematosus: The Importance of the Diagnosis for the Best Management of Patients

Dermatology ◽  
2021 ◽  
pp. 1-10
Author(s):  
Astrid Herzum ◽  
Giulia Gasparini ◽  
Emanuele Cozzani ◽  
Martina Burlando ◽  
Aurora Parodi
Keyword(s):  
General Practitioner ◽  
Autoimmune Disease ◽  
Lupus Erythematosus ◽  
Cutaneous Lupus Erythematosus ◽  
Cutaneous Manifestations ◽  
Skin Manifestation ◽  
Systemic Involvement ◽  
Best Management ◽  
Wide Range ◽  
Cutaneous Lupus

Lupus erythematosus (LE) is an autoimmune disease with a wide range of clinical and cutaneous manifestations. Along with the well-known typical cutaneous manifestations of LE, some cutaneous manifestations are rarer, but still characteristic, enabling the dermatologist and the general practitioner who know them to suspect cutaneous LE (CLE) and investigate a possible underlying systemic involvement. Indeed, not infrequently a skin manifestation is the first presentation of systemic LE (SLE), and >75% of SLE patients show signs of skin disease during the course of the illness. Especially, SLE involvement occurs in cases of acute CLE, while it is uncommon in subacute CLE and rare in chronic CLE. This review aims to concentrate especially on atypical cutaneous manifestations of LE to enable the clinician to diagnose even the rarest forms of CLE.

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