Early‐onset recurrent panniculitis as a phenotype of NLRC4‐associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445Pro NLRC4 variant
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DOI: 10.1111/ajd.14005
Abstract: Monoallelic NLRC4 gain‐of‐function variants cause an inflammasomopathy with diverse clinical forms including infantile enterocolitis, recurrent macrophage activation syndrome, cold‐induced urticaria‐like lesions (or familial‐cold autoinflammatory syndrome, FCAS4), and painful subcutaneous nodules. Here, we identified a large… read more here.
Keywords: ser445pro nlrc4; early onset; recurrent panniculitis; panniculitis ... See more keywords