{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T02:33:48Z","timestamp":1793414028714,"version":"4.5.0"},"reference-count":33,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jpeds.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2020,4]]},"DOI":"10.1016\/j.jpeds.2019.12.041","type":"journal-article","created":{"date-parts":[[2020,2,6]],"date-time":"2020-02-06T08:13:40Z","timestamp":1580976820000},"page":"196-201.e1","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":35,"special_numbering":"C","title":["A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome"],"prefix":"10.1016","volume":"219","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8698-9547","authenticated-orcid":false,"given":"Simone","family":"Cesaro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pegoraro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Sainati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzina","family":"Lucidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enza","family":"Montemitro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Corti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ugo","family":"Ramenghi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Nasi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Menna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Zecca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesare","family":"Danesino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Nicolis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Pasquali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Perobelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria","family":"Tridello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piero","family":"Farruggia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Cipolli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2019.12.041_bib1","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1111\/j.1749-6632.2011.06349.x","article-title":"Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome","volume":"1242","author":"Dror","year":"2011","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.jpeds.2019.12.041_bib2","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/j.jpeds.2013.11.039","article-title":"Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry","volume":"164","author":"Myers","year":"2014","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2019.12.041_bib3","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/j.hoc.2018.04.006","article-title":"Diagnosis, treatment, and molecular pathology of Shwachman-Diamond syndrome","volume":"32","author":"Nelson","year":"2018","journal-title":"Hematol Oncol Clin North Am"},{"key":"10.1016\/j.jpeds.2019.12.041_bib4","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/1750-1172-6-26","article-title":"Congenital neutropenia: diagnosis, molecular bases and patient management","volume":"6","author":"Donadieu","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jpeds.2019.12.041_bib5","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1002\/pbc.24260","article-title":"Incidence of Shwachman-Diamond syndrome","volume":"59","author":"Minelli","year":"2012","journal-title":"Pediatr Blood Cancer"},{"key":"10.1016\/j.jpeds.2019.12.041_bib6","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0022-3476(99)70332-X","article-title":"Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar","volume":"135","author":"Ginzberg","year":"1999","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2019.12.041_bib7","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1056\/NEJMoa1611604","article-title":"Prognostic mutations in myelodysplastic syndrome after stem-cell transplantation","volume":"376","author":"Lindsley","year":"2017","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jpeds.2019.12.041_bib8","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1007\/s00431-012-1908-0","article-title":"Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome","volume":"172","author":"Schaballie","year":"2013","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jpeds.2019.12.041_bib9","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.ajhg.2016.05.002","article-title":"DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation","volume":"99","author":"Tummala","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpeds.2019.12.041_bib10","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1182\/blood-2016-08-735431","article-title":"Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome","volume":"129","author":"Dhanraj","year":"2017","journal-title":"Blood"},{"key":"10.1016\/j.jpeds.2019.12.041_bib11","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1136\/jmedgenet-2016-104366","article-title":"Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamondlike syndrome","volume":"54","author":"Stepensky","year":"2017","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2019.12.041_bib12","doi-asserted-by":"crossref","first-page":"4090","DOI":"10.1172\/JCI92876","article-title":"Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features","volume":"127","author":"Carapito","year":"2017","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jpeds.2019.12.041_bib13","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1002\/pbc.20478","article-title":"Shwachman-Diamond syndrome","volume":"45","author":"Dror","year":"2005","journal-title":"Pediatr Blood Cancer"},{"key":"10.1016\/j.jpeds.2019.12.041_bib14","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1111\/j.1365-2141.2009.07611.x","article-title":"The route to development of myelodysplastic syndrome\/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies","volume":"145","author":"Maserati","year":"2009","journal-title":"Br J Haematol"},{"key":"10.1016\/j.jpeds.2019.12.041_bib15","first-page":"347","article-title":"Aplastic anemia associated with the Shwachman syndrome. In\u00a0vivo and in\u00a0vitro observations","volume":"3","author":"Woods","year":"1981","journal-title":"Am J Pediatr Hematol Oncol"},{"key":"10.1016\/j.jpeds.2019.12.041_bib16","doi-asserted-by":"crossref","first-page":"1591","DOI":"10.1038\/sj.leu.2401147","article-title":"Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome","volume":"12","author":"Dror","year":"1998","journal-title":"Leukemia"},{"key":"10.1016\/j.jpeds.2019.12.041_bib17","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.3324\/haematol.2011.057489","article-title":"Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome","volume":"97","author":"Donadieu","year":"2012","journal-title":"Haematologica"},{"key":"10.1016\/j.jpeds.2019.12.041_bib18","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1053\/j.seminhematol.2007.10.006","article-title":"Myelodysplastic syndrome in children and adolescents","volume":"45","author":"Niemeyer","year":"2008","journal-title":"Semin Hematol"},{"key":"10.1016\/j.jpeds.2019.12.041_bib19","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1182\/asheducation-2011.1.84","article-title":"Classification of childhood aplastic anemia and myelodysplastic syndrome","volume":"2011","author":"Niemeyer","year":"2011","journal-title":"Hematology Am Soc Hematol Educ Program"},{"key":"10.1016\/j.jpeds.2019.12.041_bib20","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1002\/humu.9324","article-title":"Identification of novel mutations in patients with Shwachman-Diamond syndrome","volume":"25","author":"Nicolis","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jpeds.2019.12.041_bib21","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1002\/gcc.20301","article-title":"Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia\/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies","volume":"45","author":"Maserati","year":"2006","journal-title":"Genes Chromosomes Cancer"},{"key":"10.1016\/j.jpeds.2019.12.041_bib22","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1086\/319505","article-title":"Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7","volume":"68","author":"Goobie","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpeds.2019.12.041_bib23","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1136\/adc.65.12.1349","article-title":"Psychological characteristics of children with Shwachman syndrome","volume":"65","author":"Kent","year":"1990","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.jpeds.2019.12.041_bib24","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1002\/pbc.23108","article-title":"Congenital and acquired neutropenia consensus guidelines on diagnosis from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica)","volume":"57","author":"Fioredda","year":"2011","journal-title":"Pediatr Blood Cancer"},{"key":"10.1016\/j.jpeds.2019.12.041_bib25","doi-asserted-by":"crossref","first-page":"4305","DOI":"10.1182\/blood-2011-06-353938","article-title":"Defective ribosome assembly in Shwachman-Diamond syndrome","volume":"118","author":"Wong","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.jpeds.2019.12.041_bib26","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1002\/ajh.25025","article-title":"Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells","volume":"93","author":"Bezzerri","year":"2018","journal-title":"Am J Hematol"},{"key":"10.1016\/j.jpeds.2019.12.041_bib27","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1097\/MPH.0000000000000268","article-title":"Cytogenetic monitoring in Shwachman-Diamond syndrome: a note on clonal progression and a practical warning","volume":"37","author":"Pressato","year":"2015","journal-title":"J Pediatr Hematol Oncol"},{"key":"10.1016\/j.jpeds.2019.12.041_bib28","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1038\/leu.2008.369","article-title":"The isochromosome i(7)(q10) carrying c.258 + 2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Schwachman syndrome","volume":"23","author":"Minelli","year":"2009","journal-title":"Leukemia"},{"key":"10.1016\/j.jpeds.2019.12.041_bib29","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.hoc.2012.10.003","article-title":"Clinical and molecular pathophysiology of Shwachman-Diamond Syndrome: an update","volume":"27","author":"Myers","year":"2013","journal-title":"Hematol Oncol Clin North Am"},{"key":"10.1016\/j.jpeds.2019.12.041_bib30","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1111\/bjh.15729","article-title":"Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability","volume":"184","author":"Valli","year":"2019","journal-title":"Br J Haematol"},{"key":"10.1016\/j.jpeds.2019.12.041_bib31","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1111\/j.1365-2141.2005.05758.x","article-title":"Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for Blood and Marrow Transplantation","volume":"131","author":"Cesaro","year":"2005","journal-title":"Br J Haematol"},{"key":"10.1016\/j.jpeds.2019.12.041_bib32","doi-asserted-by":"crossref","first-page":"1669","DOI":"10.1016\/j.bbmt.2017.06.002","article-title":"Allogeneic hematopoietic cell transplantation using treosulfan-based conditioning for treatment of marrow failure disorders","volume":"23","author":"Burroughs","year":"2017","journal-title":"Biol Blood Marrow Transplant"},{"key":"10.1016\/j.jpeds.2019.12.041_bib33","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1182\/blood-2017-08-801985","article-title":"Somatic mutations and clonal hematopoiesis in congenital neutropenia","volume":"131","author":"Xia","year":"2018","journal-title":"Blood"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347619317202?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347619317202?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T09:04:31Z","timestamp":1758359071000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347619317202"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4]]},"references-count":33,"alternative-id":["S0022347619317202"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2019.12.041","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2020,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2019.12.041","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}