{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T21:06:15Z","timestamp":1789506375376,"version":"build-2803163510"},"reference-count":38,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2026,1]]},"DOI":"10.1016\/j.cca.2025.120646","type":"journal-article","created":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T15:32:05Z","timestamp":1759937525000},"page":"120646","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Progressive increase of serum zinc level in a Pediatric patient with PSTPIP1- p.N236K mutation"],"prefix":"10.1016","volume":"579","author":[{"given":"Cyrus","family":"Takahashi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devon","family":"Rotramel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rejwi A.","family":"Dahal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amani","family":"Dickenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John O.","family":"Ogunbileje","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2025.120646_bb0005","doi-asserted-by":"crossref","first-page":"2973","DOI":"10.1074\/jbc.M106428200","article-title":"PSTPIP is a substrate of PTP-PEST and serves as a scaffold guiding PTP-PEST toward a specific dephosphorylation of WASP","volume":"277","author":"C\u00f4t\u00e9","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.cca.2025.120646_bb0010","doi-asserted-by":"crossref","first-page":"7320","DOI":"10.1093\/emboj\/17.24.7320","article-title":"A cdc15-like adaptor protein (CD2BP1) interacts with the CD2 cytoplasmic domain and regulates CD2-triggered adhesion","volume":"17","author":"Li","year":"1998","journal-title":"EMBO J."},{"key":"10.1016\/j.cca.2025.120646_bb0015","doi-asserted-by":"crossref","first-page":"5898","DOI":"10.4049\/jimmunol.176.10.5898","article-title":"CD2BP1 modulates CD2-dependent T cell activation via linkage to protein tyrosine phosphatase (PTP)-PEST","volume":"176","author":"Yang","year":"2006","journal-title":"J. Immunol."},{"key":"10.1016\/j.cca.2025.120646_bb0020","doi-asserted-by":"crossref","first-page":"2703","DOI":"10.1182\/blood-2013-07-516948","article-title":"The F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages","volume":"123","author":"Starnes","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.cca.2025.120646_bb0025","doi-asserted-by":"crossref","first-page":"519","DOI":"10.2174\/138920210793175921","article-title":"Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review","volume":"11","author":"Smith","year":"2010","journal-title":"CG"},{"key":"10.1016\/j.cca.2025.120646_bb0030","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.3390\/genes14081655","article-title":"PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome: a systematic review","volume":"14","author":"Mejbri","year":"2023","journal-title":"Genes"},{"key":"10.1016\/j.cca.2025.120646_bb0035","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1186\/s12969-021-00636-9","article-title":"Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome","volume":"19","author":"Zhang","year":"2021","journal-title":"Pediatr. Rheumatol."},{"key":"10.1016\/j.cca.2025.120646_bb0040","doi-asserted-by":"crossref","first-page":"3188","DOI":"10.1093\/rheumatology\/kead044","article-title":"Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF\/MKD-overlapping phenotype","volume":"62","author":"\u00d6zk\u0131l\u0131n\u00e7 \u00d6nen","year":"2023","journal-title":"Rheumatology"},{"key":"10.1016\/j.cca.2025.120646_bb0045","doi-asserted-by":"crossref","first-page":"270","DOI":"10.5114\/ceji.2021.107030","article-title":"Mutation in the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) gene in a patient with acute lymphoblasticleukemia","volume":"46","author":"Gowin","year":"2021","journal-title":"Cejoi"},{"key":"10.1016\/j.cca.2025.120646_bb0050","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.molcel.2007.08.029","article-title":"Pyrin activates the ASC Pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants","volume":"28","author":"Yu","year":"2007","journal-title":"Mol. Cell"},{"key":"10.1016\/j.cca.2025.120646_bb0055","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1111\/bjd.16136","article-title":"The expanding spectrum of clinical phenotypes associated with PSTPIP1 mutations: from PAPA to PAMI syndrome and beyond","volume":"178","author":"Kl\u00f6tgen","year":"2018","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.cca.2025.120646_bb0060","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1016\/j.jaci.2015.04.016","article-title":"Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)\u2013associated inflammatory diseases","volume":"136","author":"Holzinger","year":"2015","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.cca.2025.120646_bb0065","doi-asserted-by":"crossref","first-page":"13501","DOI":"10.1073\/pnas.2135380100","article-title":"Pyrin binds the PSTPIP1\/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway","volume":"100","author":"Shoham","year":"2003","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.cca.2025.120646_bb0070","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/s00018-022-04173-w","article-title":"PSTPIP1-LYP phosphatase interaction: structural basis and implications for autoinflammatory disorders","volume":"79","author":"Manso","year":"2022","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.cca.2025.120646_bb0075","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1016\/j.jid.2020.08.028","article-title":"Phenotypic associations of PSTPIP1 sequence variants in PSTPIP1-associated autoinflammatory diseases","volume":"141","author":"Boursier","year":"2021","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.cca.2025.120646_bb0080","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1186\/s12969-022-00707-5","article-title":"PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?","volume":"20","author":"Whiteside","year":"2022","journal-title":"Pediatr. Rheumatol."},{"key":"10.1016\/j.cca.2025.120646_bb0085","doi-asserted-by":"crossref","first-page":"1742","DOI":"10.1016\/S0140-6736(02)11683-7","article-title":"Hyperzincaemia and hypercalprotectinaemia: a new disorder of zinc metabolism","volume":"360","author":"Sampson","year":"2002","journal-title":"Lancet"},{"issue":"2022","key":"10.1016\/j.cca.2025.120646_bb0090","first-page":"1","article-title":"Annual meeting: immune deficiency and dysregulation north American conference","volume":"42","author":"Selected Abstracts from the 13th Annual Meeting of the Clinical Immunology Society","year":"2022","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.cca.2025.120646_bb0095","article-title":"Single-Center overview of Pediatric monogenic autoinflammatory diseases in the past decade: a summary and beyond","volume":"11","author":"Wang","year":"2020","journal-title":"Front. Immunol."},{"key":"10.1016\/j.cca.2025.120646_bb0100","doi-asserted-by":"crossref","first-page":"848","DOI":"10.3899\/jrheum.2023-1209","article-title":"Autoinflammatory diseases: a review","volume":"51","author":"An","year":"2024","journal-title":"J. Rheumatol."},{"key":"10.1016\/j.cca.2025.120646_bb0105","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/s41390-019-0600-8","article-title":"Rheumatological manifestations in inborn errors of immunity","volume":"87","author":"K\u00f6stel Bal","year":"2020","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.cca.2025.120646_bb0110","doi-asserted-by":"crossref","first-page":"E1626","DOI":"10.1503\/cmaj.210549","article-title":"Genome sequencing as a diagnostic test","volume":"193","author":"Costain","year":"2021","journal-title":"CMAJ"},{"key":"10.1016\/j.cca.2025.120646_bb0115","doi-asserted-by":"crossref","first-page":"2610","DOI":"10.1177\/15353702211040046","article-title":"Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases","volume":"246","author":"Nisar","year":"2021","journal-title":"Exp. Biol. Med. (Maywood)"},{"key":"10.1016\/j.cca.2025.120646_bb0120","first-page":"39","article-title":"Whole genome sequencing in clinical practice","volume":"17","author":"Bagger","year":"2024","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.cca.2025.120646_bb0125","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1002\/art.41976","article-title":"Excess serum Interleukin-18 distinguishes patients with pathogenic mutations in PSTPIP1","volume":"74","author":"Stone","year":"2022","journal-title":"Arthritis Rheum."},{"key":"10.1016\/j.cca.2025.120646_bb0130","article-title":"Strong inflammatory signatures in the neutrophils of PAMI syndrome","volume":"13","author":"Zheng","year":"2022","journal-title":"Front. Immunol."},{"key":"10.1016\/j.cca.2025.120646_bb0135","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/ki.2012.101","article-title":"Chemokines play a critical role in the cross-regulation of Th1 and Th17 immune responses in murine crescentic glomerulonephritis","volume":"82","author":"Paust","year":"2012","journal-title":"Kidney Int."},{"key":"10.1016\/j.cca.2025.120646_bb0140","article-title":"Elevated circulating levels of the interferon-\u03b3\u2013induced chemokines are associated with disease activity and cutaneous manifestations in adult-onset still's disease","volume":"7","author":"Han","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.cca.2025.120646_bb0145","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1016\/j.etap.2014.03.021","article-title":"Particles internalization, oxidative stress, apoptosis and pro-inflammatory cytokines in alveolar macrophages exposed to cement dust","volume":"37","author":"Ogunbileje","year":"2014","journal-title":"Environ. Toxicol. Pharmacol."},{"key":"10.1016\/j.cca.2025.120646_bb0150","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1093\/clinchem\/hvaa081","article-title":"Investigational biomarkers for checkpoint inhibitor immune-related adverse event prediction and diagnosis","volume":"66","author":"Von Itzstein","year":"2020","journal-title":"Clin. Chem."},{"key":"10.1016\/j.cca.2025.120646_bb0155","article-title":"Clinical significance of serum CXCL9, CXCL10, and CXCL11 in patients with lupus nephritis, Immunity Inflam &amp","volume":"12","author":"Wang","year":"2024","journal-title":"Disease"},{"key":"10.1016\/j.cca.2025.120646_bb0160","doi-asserted-by":"crossref","DOI":"10.1016\/j.cca.2024.118905","article-title":"Roles and benefits of inflammation marker assays in the management of autoinflammatory diseases: case study of a patient with familial Mediterranean fever","volume":"558","author":"Pruvost","year":"2024","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.cca.2025.120646_bb0165","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1016\/j.ard.2024.12.002","article-title":"Interleukin-18 and interleukin-1\u03b2 blockade to control inflammation in PAMI syndrome before and after HSCT","volume":"84","author":"Fournier","year":"2025","journal-title":"Ann. Rheum. Dis."},{"key":"10.1016\/j.cca.2025.120646_bb0170","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.jaci.2020.11.043","article-title":"HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome","volume":"148","author":"Laberko","year":"2021","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.cca.2025.120646_bb0175","doi-asserted-by":"crossref","DOI":"10.3389\/fmed.2021.759092","article-title":"Kidney involvement in PSTPIP1 associated inflammatory diseases (PAID): a case report and review of the literature","volume":"8","author":"Borgia","year":"2021","journal-title":"Front. Med."},{"key":"10.1016\/j.cca.2025.120646_bb0180","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1093\/clinchem\/hvaa024","article-title":"ISSAID\/EMQN best practice guidelines for the genetic diagnosis of monogenic autoinflammatory diseases in the next-generation sequencing era","volume":"66","author":"Shinar","year":"2020","journal-title":"Clin. Chem."},{"key":"10.1016\/j.cca.2025.120646_bb0185","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1373\/clinchem.2008.107243","article-title":"Population-based Genomewide genetic analysis of common clinical chemistry analytes","volume":"55","author":"Chasman","year":"2009","journal-title":"Clin. Chem."},{"key":"10.1016\/j.cca.2025.120646_bb0190","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1373\/clinchem.2019.306738","article-title":"Effect of lipoprotein(a) on the diagnosis of familial hypercholesterolemia: does it make a difference in the clinic?","volume":"65","author":"Chan","year":"2019","journal-title":"Clin. Chem."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000989812500525X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000989812500525X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T17:25:29Z","timestamp":1766510729000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000989812500525X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":38,"alternative-id":["S000989812500525X"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2025.120646","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Progressive increase of serum zinc level in a Pediatric patient with PSTPIP1- p.N236K mutation","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2025.120646","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"120646"}}