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Adenosine deaminase acting on RNA1 mutation in chilblain lupus treated with tofacitinib
Journal article   Open access   Peer reviewed

Adenosine deaminase acting on RNA1 mutation in chilblain lupus treated with tofacitinib

Alexander T. Velaoras, Sabah Iqbal, Alex Silberzweig, Kelly Frasier, Silvija P. Gottesman, Cynthia M. Magro and Sheila Shaigany
JAAD Case Reports, v 72, pp 31-34
01 Jun 2026
DOI: https://doi.org/10.1016/j.jdcr.2026.03.053
PMID: 42125077
url
https://doi.org/10.1016/j.jdcr.2026.03.053View
Published, Version of Record (VoR) Open CC BY V4.0

Abstract

ADAR1 familial chilblain lupus IFN-1 interferons Janus kinase inhibitor tofacitinib Mutation
Familial chilblain lupus (FCL) is a rare form of monogenic cutaneous lupus presenting in childhood with recurrent, cold-induced, painful violaceous papules at acral sites oftentimes with concomitant inflammatory arthritis, Raynaud’s phenomenon, and cytopenias. As a variant of lupus erythematosus, immunofluorescent testing of lesional skin will show a positive lupus band test. FCL commonly arises from de novo mutations involving interferonopathy-related genes such as 3 prime repair exonuclease 1 (TREX1) and stimulator of interferon genes (STING), subsequently causing overactivated type-I interferon (IFN-I) signaling and autoinflammation.1 Adenosine deaminase acting on RNA1 (ADAR1) is another interferonopathy-related gene encoding the enzymatic RNA-editor ADAR1, which functions to suppress innate immune signaling and self-recognition. Pathogenic loss-of-function variants thereby disrupt critical immune-regulation, resulting in overzealous IFN-I upregulation and autoimmunity. While ADAR1 mutation has been reported in monogenic lupus, it is not well described in FCL.2 We report a case of pediatric chilblain lupus associated with heterozygous ADAR1 mutation, exhibiting IFN-I overexpression in lesional skin, successfully treated with tofacitinib.

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