Genetics of Neonatal Autoimmune and Autoinflammatory Diseases
Author:
Publisher
Wiley
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/9780470015902.a0025735
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1. Association of mutations in theNALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis
2. NALP3 Forms an IL-1β-Processing Inflammasome with Increased Activity in Muckle-Wells Autoinflammatory Disorder
3. De novoCIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin-associated autoinflammatory diseases
4. New autoantigens in the antiphospholipid syndrome
5. A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism unde
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1. Genetics of Autoinflammatory Diseases;eLS;2018-06-14
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