Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype
- PMID: 31446425
- DOI: 10.1136/annrheumdis-2019-216158
Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype
Keywords: FCAS2; autoinflammatory syndrome; periodic fever; variant of unknown significance.
Conflict of interest statement
Competing interests: None declared.
Comment in
-
Response to: 'Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype' by Gupta et al.Ann Rheum Dis. 2021 Jul;80(7):e118. doi: 10.1136/annrheumdis-2019-216184. Epub 2019 Sep 6. Ann Rheum Dis. 2021. PMID: 31492705 No abstract available.
-
NLRP12 gene mutation in India: case finding and diagnosis made easy in the days of whole exome sequencing.Ann Rheum Dis. 2021 Sep;80(9):e152. doi: 10.1136/annrheumdis-2019-216270. Epub 2019 Sep 20. Ann Rheum Dis. 2021. PMID: 31540937 No abstract available.
Comment on
-
Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases.Ann Rheum Dis. 2019 Oct;78(10):1405-1411. doi: 10.1136/annrheumdis-2018-214472. Epub 2019 Jul 5. Ann Rheum Dis. 2019. PMID: 31278138
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
