TY  - JOUR
TI  - Exploratory Study of MYD88 L265P, Rare NLRP3 Variants, and Clonal Hematopoiesis Prevalence in Patients With Schnitzler Syndrome
N1  - This version is the author accepted manuscript. For information on re-use, please refer to the publisher?s terms and conditions.
JF  - Arthritis & Rheumatology
Y1  - 2019/12//
UR  - https://doi.org/10.1002/art.41030
N2  - 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.
SP  - 2121
A1  - Pathak, S
A1  - Rowczenio, DM
A1  - Owen, RG
A1  - Doody, GM
A1  - Newton, DJ
A1  - Taylor, C
A1  - Taylor, J
A1  - Cargo, C
A1  - Hawkins, PN
A1  - Krause, K
A1  - Lachmann, HJ
A1  - Savic, S
IS  - 12
EP  - 2125
SN  - 2326-5205
ID  - discovery10078970
VL  - 71
AV  - public
ER  -