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Rheumatology · Rheumatology / Interferonopathies

Chilblain lupus syndrome

also: Familial chilblain lupus

Familial chilblain lesions with lupus features.

Specialty
Rheumatology
Subspecialty
Rheumatology / Interferonopathies
Sex & age distribution
Male: affected; Female: affected; Children: yes
Gene(s) involved
SAMHD1, TREX1
Alternative names & eponyms
Familial chilblain lupus

Etiology & mechanism

TREX1 or SAMHD1 variants.

Gene(s) involved (2)

Symptoms & signs (4)

In plain terms, someone with Chilblain lupus syndrome may experience the following — click any to explore related syndromes:

Same gene(s)

Other syndromes that involve one of this syndrome's genes.

Overlapping symptoms

Other syndromes that share symptoms with this one.

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