Familial Chilblain Lupus Due to a Novel Mutation in the Exonuclease III Domain of 3′ Repair Exonuclease 1 (TREX1) | Zendy

Claudia Günther | Zendy; Nicole Berndt | Zendy; Christine Wolf | Zendy; Min Ae LeeKirsch | Zendy

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Familial Chilblain Lupus Due to a Novel Mutation in the Exonuclease III Domain of 3′ Repair Exonuclease 1 (TREX1)

Author(s) -

Claudia Günther,

Nicole Berndt,

Christine Wolf,

Min Ae LeeKirsch

Publication year - 2014

Publication title -

jama dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.128

H-Index - 166

eISSN - 2168-6084

pISSN - 2168-6068

DOI - 10.1001/jamadermatol.2014.3438

Subject(s) - exonuclease iii , medicine , exonuclease , mutation , systemic lupus erythematosus , interferon , interferon type i , lupus erythematosus , immunology , pathogenesis , antibody , gene , genetics , pathology , biology , disease , polymerase , escherichia coli

Familial chilblain lupus is a rare, autosomal dominant form of lupus erythematosus characterized by cold-induced inflammatory lesions at acral locations presenting in early childhood. Familial chilblain lupus is usually caused by a mutation in TREX1 (3' repair exonuclease 1).

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