{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T07:49:31Z","timestamp":1781077771776,"version":"3.54.1"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,8,16]],"date-time":"2021-08-16T00:00:00Z","timestamp":1629072000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,8,16]],"date-time":"2021-08-16T00:00:00Z","timestamp":1629072000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Rheumatol"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Mutations along PSTPIP1 gene are associated to two specific conditions, PAPA syndrome and PAMI syndrome, both autoinflammatory disorders associated to disturbances in cytoskeleton formation. Immunological aspects of PAMI syndrome has not yet been reported neither the clinical impact on therapeutical decisions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical data of patients records were retrospectively accessed. Genomic DNA were extracted and sequenced following standard procedures. Peripheral lymphocytes were quantified in T, B e FOXP3 phenotypes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We describe two related patients with PAMI syndrome harboring the usual E250K mutation. Anti-IL1 therapy could partially control the disease in the index patient. A broad spectrum of immunological effects as well as an aberrant expression of FOXP3 could be observed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Here we report two related brazilian patients with PAMI syndromes harboring the E250K mutation in PSTPIP1, their immunological aspects and the therapeutical response to canakinumab.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12969-021-00617-y","type":"journal-article","created":{"date-parts":[[2021,8,16]],"date-time":"2021-08-16T05:04:23Z","timestamp":1629090263000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Immunological repertoire linked to PSTPIP1-associated myeloid-related inflammatory (PAMI) syndrome"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7533-1937","authenticated-orcid":false,"given":"Leonardo Oliveira","family":"Mendon\u00e7a","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Terreri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiane Mitie","family":"Osaku","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samar Freschi","family":"Barros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen Francine","family":"K\u00f6hler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex Isidoro","family":"Prado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myrthes Toledo","family":"Barros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge","family":"Kalil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio Fernandes Morato","family":"Castro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,8,16]]},"reference":[{"issue":"6","key":"617_CR1","doi-asserted-by":"publisher","first-page":"1947","DOI":"10.1016\/j.jaci.2018.01.030","volume":"142","author":"WJM Janssen","year":"2018","unstructured":"Janssen WJM, Grobarova V, Leleux J, Jongeneel L, van Gijn M, van Montfrans JM, et al. Proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) controls immune synapse stability in human T cells. J Allergy Clin Immunol. 2018;142(6):1947\u201355. https:\/\/doi.org\/10.1016\/j.jaci.2018.01.030.","journal-title":"J Allergy Clin Immunol"},{"issue":"3","key":"617_CR2","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/j.clim.2013.03.016","volume":"147","author":"A Almeida de Jesus","year":"2013","unstructured":"Almeida de Jesus A, Goldbach-Mansky R. Monogenic autoinflammatory diseases: concept and clinical manifestations. Clin Immunol. 2013;147(3):155\u201374. https:\/\/doi.org\/10.1016\/j.clim.2013.03.016.","journal-title":"Clin Immunol"},{"key":"617_CR3","doi-asserted-by":"publisher","unstructured":"- Boursier G, Piram M, Rittore C, Sarrabay G, Touitou I. Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases. J Invest Dermatol. 2020 :S0022-202X(20)32168-0. https:\/\/doi.org\/10.1016\/j.jid.2020.08.028","DOI":"10.1016\/j.jid.2020.08.028"},{"issue":"8","key":"617_CR4","doi-asserted-by":"publisher","first-page":"2556","DOI":"10.1002\/art.27521","volume":"62","author":"CL Cortesio","year":"2010","unstructured":"Cortesio CL, Wernimont SA, Kastner DL, Cooper KM, Huttenlocher A. Impaired podosome formation and invasive migration of macrophages from patients with a PSTPIP1 mutation and PAPA syndrome. Arthritis Rheum. 2010;62(8):2556\u20138. https:\/\/doi.org\/10.1002\/art.27521.","journal-title":"Arthritis Rheum"},{"issue":"23","key":"617_CR5","doi-asserted-by":"publisher","first-page":"13501","DOI":"10.1073\/pnas.2135380100","volume":"100","author":"NG Shoham","year":"2003","unstructured":"Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA, et al. Pyrin binds the PSTPIP1\/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci USA. 2003;100(23):13501\u20136. https:\/\/doi.org\/10.1073\/pnas.2135380100.","journal-title":"Proc Natl Acad Sci USA"},{"key":"617_CR6","doi-asserted-by":"publisher","first-page":"977","DOI":"10.1136\/annrheumdis-2019-eular.8133","volume":"78","author":"M Mejbri","year":"2019","unstructured":"Mejbri M, Theodoropoulou K, Hofer M. FRI0564 PSTPIP1- associated myeloid-related proteinemia inflammatory syndrome\/pami syndrome: case report and review of the literature. Ann Rheum Dis. 2019;78:977\u20138. https:\/\/doi.org\/10.1136\/annrheumdis-2019-eular.8133.","journal-title":"Ann Rheum Dis"},{"issue":"11","key":"617_CR7","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1038\/nri.2017.75","volume":"17","author":"L Lu","year":"2017","unstructured":"Lu L, Barbi J, Pan F. The regulation of immune tolerance by FOXP3. Nat Rev Immunol. 2017;17(11):703\u201317. https:\/\/doi.org\/10.1038\/nri.2017.75.","journal-title":"Nat Rev Immunol"},{"issue":"47","key":"617_CR8","doi-asserted-by":"publisher","first-page":"17951","DOI":"10.1074\/jbc.RA119.010545","volume":"294","author":"SH Park","year":"2019","unstructured":"Park SH, Ham S, Lee A, M\u00f6ller A, Kim TS. NLRP3 negatively regulates Treg differentiation through Kpna2-mediated nuclear translocation. J Biol Chem. 2019;294(47):17951\u201361. https:\/\/doi.org\/10.1074\/jbc.RA119.010545.","journal-title":"J Biol Chem"}],"container-title":["Pediatric Rheumatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12969-021-00617-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12969-021-00617-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12969-021-00617-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,16]],"date-time":"2021-08-16T05:15:35Z","timestamp":1629090935000},"score":1,"resource":{"primary":{"URL":"https:\/\/ped-rheum.biomedcentral.com\/articles\/10.1186\/s12969-021-00617-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,16]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["617"],"URL":"https:\/\/doi.org\/10.1186\/s12969-021-00617-y","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-270780\/v1","asserted-by":"object"}]},"ISSN":["1546-0096"],"issn-type":[{"value":"1546-0096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,16]]},"assertion":[{"value":"7 March 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 June 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 August 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent for publication was obtained from all included in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent for publication"}},{"value":"The study is approved at the Hospital das Cl\u00ednicas, University of S\u00e3o Paulo, School of Medicine. The number of study approval is CAAE 74305817.0.0000.0068.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"LOM receives fees from Novartis Brazil as speaker.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"126"}}