Rare variants, autoimmune disease, and arthritis.
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ABSTRACT:
SUBMITTER: Chung SA
PROVIDER: S-EPMC4910637 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Publications
Rare variants, autoimmune disease, and arthritis.
Chung Sharon A SA Shum Anthony K AK
Current opinion in rheumatology 20160701 4
<h4>Purpose of review</h4>We review select studies of newly discovered rare variants in autoimmune diseases with a focus on newly described monogenic disorders, rheumatoid arthritis, and systemic lupus erythematosus.<h4>Recent findings</h4>Two new monogenic syndromes of inflammatory arthritis were discovered using whole exome sequencing: the coatomer subunit alpha syndrome because of rare mutations in coatomer subunit alpha and haploinsufficiency of A20 resulting from rare mutations in TNFAIP3. ...[more]
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