Exploratory Study of MYD88 L265P, Rare NLRP3 Variants, and Clonal Hematopoiesis Prevalence in Patients With Schnitzler Syndrome.
Cryopyrin-Associated Periodic Syndromes
/ genetics
Hematopoiesis
/ genetics
High-Throughput Nucleotide Sequencing
Humans
Mutation
/ genetics
Myeloid Differentiation Factor 88
/ analysis
NLR Family, Pyrin Domain-Containing 3 Protein
/ analysis
Polymerase Chain Reaction
Prevalence
Schnitzler Syndrome
/ genetics
Journal
Arthritis & rheumatology (Hoboken, N.J.)
ISSN: 2326-5205
Titre abrégé: Arthritis Rheumatol
Pays: United States
ID NLM: 101623795
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
received:
08
02
2019
accepted:
27
06
2019
pubmed:
4
7
2019
medline:
10
3
2020
entrez:
4
7
2019
Statut:
ppublish
Résumé
To assess the prevalence of the MYD88 L265P mutation and variants within NLRP3 and evaluate the status of oligoclonal hematopoiesis in 30 patients with Schnitzler syndrome (SchS). Thirty patients with SchS were recruited from 3 clinical centers. Six patients with known acquired cryopyrin-associated periodic syndromes (aCAPS) were included as controls. Allele-specific oligonucleotide-polymerase chain reaction was used for the detection of the MYD88 L265P variant, next-generation sequencing was applied to analyze NLRP3 and 28 genes associated with myelodysplastic syndrome, and gene scanning was performed for the detection of X chromosome inactivation. Activating NLRP3 mutations were not present in 11 SchS patients who had not been sequenced for this gene previously. The MYD88 L265P variant was present in 9 of 30 SchS patients, and somatic mutations associated with clonal hematopoiesis were identified in 1 of 30 patients with SchS and 1 of 6 patients with aCAPS. Evidence of nonrandom X chromosome inactivation was detected in 1 female patient with SchS and 1 female patient with aCAPS. A shared molecular mechanism accounting for the pathogenesis of inflammation in SchS remains elusive. Clonal hematopoiesis is not associated with other somatic mutations found in individuals with SchS or aCAPS.
Substances chimiques
MYD88 protein, human
0
Myeloid Differentiation Factor 88
0
NLR Family, Pyrin Domain-Containing 3 Protein
0
NLRP3 protein, human
0
Types de publication
Evaluation Study
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2121-2125Subventions
Organisme : Department of Health
Pays : United Kingdom
Informations de copyright
© 2019, American College of Rheumatology.
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