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<https://discovery.ucl.ac.uk/id/eprint/10078970> <http://purl.org/dc/terms/title> "Exploratory Study of MYD88 L265P, Rare NLRP3 Variants, and Clonal Hematopoiesis Prevalence in Patients With Schnitzler Syndrome"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/10078970> <http://purl.org/ontology/bibo/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."^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/10078970> <http://purl.org/dc/terms/date> "2019-12" .
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<https://discovery.ucl.ac.uk/id/eprint/10078970> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-059f263a5183e66799c5219c2b6e82c6> .
<https://discovery.ucl.ac.uk/id/eprint/10078970> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10078970#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10078970#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_9> <https://discovery.ucl.ac.uk/id/person/ext-059f263a5183e66799c5219c2b6e82c6> .
<https://discovery.ucl.ac.uk/id/eprint/10078970> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-1f9f0d504f700eff617482720a66a5c6> .
<https://discovery.ucl.ac.uk/id/eprint/10078970> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10078970#authors> .
<https://discovery.ucl.ac.uk/id/eprint/10078970#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_10> <https://discovery.ucl.ac.uk/id/person/ext-1f9f0d504f700eff617482720a66a5c6> .
<https://discovery.ucl.ac.uk/id/eprint/10078970> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-41879d6fd48d2a04fe7c0dc46ac442ec> .
<https://discovery.ucl.ac.uk/id/eprint/10078970> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10078970#authors> .
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<https://discovery.ucl.ac.uk/id/eprint/10078970> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10078970#authors> .
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<https://discovery.ucl.ac.uk/id/person/ext-4e0a2e103991e3d12d503c79c94a14b2> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-4e0a2e103991e3d12d503c79c94a14b2> <http://xmlns.com/foaf/0.1/givenName> "S"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-4e0a2e103991e3d12d503c79c94a14b2> <http://xmlns.com/foaf/0.1/familyName> "Pathak"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-4e0a2e103991e3d12d503c79c94a14b2> <http://xmlns.com/foaf/0.1/name> "S Pathak"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-059f263a5183e66799c5219c2b6e82c6> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-059f263a5183e66799c5219c2b6e82c6> <http://xmlns.com/foaf/0.1/givenName> "PN"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-059f263a5183e66799c5219c2b6e82c6> <http://xmlns.com/foaf/0.1/familyName> "Hawkins"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-059f263a5183e66799c5219c2b6e82c6> <http://xmlns.com/foaf/0.1/name> "PN Hawkins"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-0e75f382cf834344772cfbed6d4b44e3> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-0e75f382cf834344772cfbed6d4b44e3> <http://xmlns.com/foaf/0.1/givenName> "DJ"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-0e75f382cf834344772cfbed6d4b44e3> <http://xmlns.com/foaf/0.1/familyName> "Newton"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-0e75f382cf834344772cfbed6d4b44e3> <http://xmlns.com/foaf/0.1/name> "DJ Newton"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-41879d6fd48d2a04fe7c0dc46ac442ec> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-41879d6fd48d2a04fe7c0dc46ac442ec> <http://xmlns.com/foaf/0.1/givenName> "HJ"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-41879d6fd48d2a04fe7c0dc46ac442ec> <http://xmlns.com/foaf/0.1/familyName> "Lachmann"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-41879d6fd48d2a04fe7c0dc46ac442ec> <http://xmlns.com/foaf/0.1/name> "HJ Lachmann"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-b5b75c466d1c9a9dd5129d9338819769> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-b5b75c466d1c9a9dd5129d9338819769> <http://xmlns.com/foaf/0.1/givenName> "RG"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-b5b75c466d1c9a9dd5129d9338819769> <http://xmlns.com/foaf/0.1/familyName> "Owen"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-b5b75c466d1c9a9dd5129d9338819769> <http://xmlns.com/foaf/0.1/name> "RG Owen"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-afabfc9ac06ef6f220d3fb0472971836> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-afabfc9ac06ef6f220d3fb0472971836> <http://xmlns.com/foaf/0.1/givenName> "DM"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-afabfc9ac06ef6f220d3fb0472971836> <http://xmlns.com/foaf/0.1/familyName> "Rowczenio"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-afabfc9ac06ef6f220d3fb0472971836> <http://xmlns.com/foaf/0.1/name> "DM Rowczenio"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-cac7f59f71c2ac80c7f1656c2460fcb0> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-cac7f59f71c2ac80c7f1656c2460fcb0> <http://xmlns.com/foaf/0.1/givenName> "J"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-cac7f59f71c2ac80c7f1656c2460fcb0> <http://xmlns.com/foaf/0.1/familyName> "Taylor"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-cac7f59f71c2ac80c7f1656c2460fcb0> <http://xmlns.com/foaf/0.1/name> "J Taylor"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-1f9f0d504f700eff617482720a66a5c6> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-1f9f0d504f700eff617482720a66a5c6> <http://xmlns.com/foaf/0.1/givenName> "K"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-1f9f0d504f700eff617482720a66a5c6> <http://xmlns.com/foaf/0.1/familyName> "Krause"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-1f9f0d504f700eff617482720a66a5c6> <http://xmlns.com/foaf/0.1/name> "K Krause"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6f20c0b131de4721f2c6f49a6ced63d3> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-6f20c0b131de4721f2c6f49a6ced63d3> <http://xmlns.com/foaf/0.1/givenName> "C"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6f20c0b131de4721f2c6f49a6ced63d3> <http://xmlns.com/foaf/0.1/familyName> "Cargo"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-6f20c0b131de4721f2c6f49a6ced63d3> <http://xmlns.com/foaf/0.1/name> "C Cargo"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-61bec340920ed8501fd74da68ac2e045> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-61bec340920ed8501fd74da68ac2e045> <http://xmlns.com/foaf/0.1/givenName> "C"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-61bec340920ed8501fd74da68ac2e045> <http://xmlns.com/foaf/0.1/familyName> "Taylor"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-61bec340920ed8501fd74da68ac2e045> <http://xmlns.com/foaf/0.1/name> "C Taylor"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-1b5006ea7d54df31b0dd636820c4be08> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-1b5006ea7d54df31b0dd636820c4be08> <http://xmlns.com/foaf/0.1/givenName> "GM"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-1b5006ea7d54df31b0dd636820c4be08> <http://xmlns.com/foaf/0.1/familyName> "Doody"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-1b5006ea7d54df31b0dd636820c4be08> <http://xmlns.com/foaf/0.1/name> "GM Doody"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-f6345a093d9c0daa86caa532921d4b73> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-f6345a093d9c0daa86caa532921d4b73> <http://xmlns.com/foaf/0.1/givenName> "S"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-f6345a093d9c0daa86caa532921d4b73> <http://xmlns.com/foaf/0.1/familyName> "Savic"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-f6345a093d9c0daa86caa532921d4b73> <http://xmlns.com/foaf/0.1/name> "S Savic"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/10078970> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/EPrint> .
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<https://discovery.ucl.ac.uk/id/eprint/10078970> <http://purl.org/dc/terms/isPartOf> <https://discovery.ucl.ac.uk/id/repository> .
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