Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype
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DOI: 10.1136/annrheumdis-2019-216158
Abstract: We read with interest the paper by Ter Haar et al describing 187 patients with undefined autoinflammatory syndromes, some of whom had variants of unknown significance (VOUS) in the known genes.1 Patients with genetic mutations… read more here.
Keywords: nlrp12 variant; novel nlrp12; familial cold; syndrome ... See more keywords