Aicardi-Goutières syndrome: cold-induced acral blemish is not always cryoglobulinaemic vasculitis or chilblain lupus

2018 ◽  
Vol 43 (4) ◽  
pp. 488-490 ◽  
Author(s):  
S. Singh ◽  
N. Taneja ◽  
P. Bala ◽  
K. K. Verma ◽  
L. S. J. Devarajan
Keyword(s):  
Chilblain Lupus ◽  
Cryoglobulinaemic Vasculitis

Chilblain Lupus Associated with Rheumatoid Arthritis

1974 ◽  
Vol 36 (3) ◽  
pp. 353-355
Author(s):  
Hiroko TSUNAWAKI ◽  
Takao SARUTA ◽  
Hideto KIMURA
Keyword(s):  
Rheumatoid Arthritis ◽  
Chilblain Lupus

Tofacitinib for refractory chilblain lupus erythematosus

2021 ◽  
Author(s):  
Scott A. Elman ◽  
Daniel R. Mazori ◽  
Joseph F. Merola
Keyword(s):  
Lupus Erythematosus ◽  
Chilblain Lupus

scholarly journals Chilblain Lupus erythematosus and Lupus pernio – the same Entity? / Erratum

Dermatology ◽  
1992 ◽  
Vol 185 (2) ◽  
pp. 160-160 ◽  
Author(s):  
A.J. Kanwar ◽  
S. Ghosh ◽  
S. Dhar
Keyword(s):  
Lupus Erythematosus ◽  
Lupus Pernio ◽  
Chilblain Lupus

scholarly journals 286 Chilblain lupus erythematosus - clinical and histologic characterization of an institutional cohort

2018 ◽  
Vol 138 (5) ◽  
pp. S49
Author(s):  
A. Fernandez ◽  
L. Kooistra ◽  
C. Ricotti ◽  
S. Billings ◽  
M. Schowalter
Keyword(s):  
Lupus Erythematosus ◽  
Chilblain Lupus

scholarly journals Chilblain lupus erythematosus—a review of literature

2008 ◽  
Vol 27 (10) ◽  
pp. 1341-1341 ◽  
Author(s):  
C. M. Hedrich ◽  
B. Fiebig ◽  
F. H. Hauck ◽  
S. Sallmann ◽  
G. Hahn ◽  
...  
Keyword(s):  
Lupus Erythematosus ◽  
Review Of Literature ◽  
Chilblain Lupus

Familial chilblain lupus with TREX1 mutation and cerebrovascular disease

2020 ◽  
Vol 2 (11) ◽  
pp. e724
Author(s):  
Takuma Nohara ◽  
Teruki Yanagi ◽  
Ichiro Yabe ◽  
Nakao Ota ◽  
Nobuo Kanazawa ◽  
...  
Keyword(s):  
Cerebrovascular Disease ◽  
Familial Chilblain Lupus ◽  
Chilblain Lupus

Chilblain lupus erythematosus and antiphospholipid antibody syndrome

1988 ◽  
Vol 19 (5) ◽  
pp. 908-910 ◽  
Author(s):  
Francisco Allegue ◽  
Maria Luisa Alonso ◽  
Antonio Rocamora ◽  
Antonio Ledo
Keyword(s):  
Lupus Erythematosus ◽  
Antiphospholipid Antibody ◽  
Antiphospholipid Antibody Syndrome ◽  
Chilblain 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.

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