Pathak, S; Rowczenio, DM; Owen, RG; Doody, GM; Newton, DJ; Taylor, C; Taylor, J; ... Savic, S; + view all Pathak, S; Rowczenio, DM; Owen, RG; Doody, GM; Newton, DJ; Taylor, C; Taylor, J; Cargo, C; Hawkins, PN; Krause, K; Lachmann, HJ; Savic, S; - view fewer (2019) Exploratory Study of MYD88 L265P, Rare NLRP3 Variants, and Clonal Hematopoiesis Prevalence in Patients With Schnitzler Syndrome. Arthritis & Rheumatology , 71 (12) pp. 2121-2125. 10.1002/art.41030.

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Abstract

OBJECTIVE: Assess the prevalence of the MYD88 L265P mutation and variants within NLRP3, also to evaluate the status of oligoclonal haematopoiesis in 30 patients with Schnitzler Syndrome (SchS). METHODS: 30 patients with SchS were recruited from 3 clinical centres. 6 patients with known acquired cryopyrin associated periodic syndrome (aCAPS) were included as controls. Allele-Specific Oligonucleotide PCR (ASO-PCR) for detection of the MYD88 L265P variant, Next-Generation Sequencing (NGS) of NLRP3 and 28 genes associated with Myelodysplastic Syndrome (MDS) and Gene Scanning for X inactivation. RESULTS: Activating NLRP3 mutations were not present within 11 SchS patients, who have not been sequenced for this gene previously. The MYD88 L265P variant was present in 9/30 SchS patients and somatic mutations associated with Clonal Hematopoiesis (CH) were identified in 1/30 SchS and 1/6 aCAPS patients. Evidence of non-random X inactivation was detected in one female with SchS and one female aCAPS patient. CONCLUSION: A shared molecular mechanism accounting for the pathogenesis of inflammation in SchS remains elusive. CH is not associated with other somatic mutations found in SchS or aCAPS patients.

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