{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T12:18:22Z","timestamp":1780316302595,"version":"3.54.1"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2008,1,11]],"date-time":"2008-01-11T00:00:00Z","timestamp":1200009600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,1,24]]},"abstract":"<jats:title>Summary<\/jats:title>\n               <jats:p>Known genetic defects currently account for only a small proportion of patients meeting criteria for \u2018probable\u2019 or \u2018possible\u2019 common variable immunodeficiency (CVID). A 59-year-old male with a 12-year history of CVID on intravenous immunoglobulin (IVIG) is presented who developed bronchiectasis, cytopenias and malabsorption that are recognized complications of CVID. Work-up for his malabsorption suggested the possibility of Shwachman\u2013Diamond syndrome, confirmed by mutation testing. With the identification of the molecular defect in Shwachman\u2013Diamond syndrome (SDS), it is becoming clear that not all SDS patients have the prominent features of neutropenia or pancreatic malabsorption. A meta-analysis of published immunological defects in SDS suggests that four of 14 hypogammaglobulinaemic SDS patients meet criteria for \u2018possible\u2019 CVID. Mutations in the SBDS gene may therefore be the fifth identified molecular defect in CVID.<\/jats:p>","DOI":"10.1111\/j.1365-2249.2007.03556.x","type":"journal-article","created":{"date-parts":[[2010,7,26]],"date-time":"2010-07-26T16:33:34Z","timestamp":1280162014000},"page":"448-454","source":"Crossref","is-referenced-by-count":19,"title":["Some cases of common variable immunodeficiency may be due to a mutation in the <i>SBDS<\/i> gene of Shwachman\u2013Diamond syndrome"],"prefix":"10.1093","volume":"151","author":[{"given":"S","family":"Khan","sequence":"first","affiliation":[{"name":"Path Links Immunology, Scunthorpe General Hospital, Scunthorpe, N. Lincs"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Hinks","sequence":"additional","affiliation":[{"name":"National Genetics Reference Laboratory, St Mary's Hospital, Manchester"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Shorto","sequence":"additional","affiliation":[{"name":"National Genetics Reference Laboratory, St Mary's Hospital, Manchester"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M J","family":"Schwarz","sequence":"additional","affiliation":[{"name":"National Genetics Reference Laboratory, St Mary's Hospital, Manchester"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W A C","family":"Sewell","sequence":"additional","affiliation":[{"name":"Path Links Immunology, Scunthorpe General Hospital, Scunthorpe, N. Lincs"},{"name":"Department of Biomedical Sciences, University of Lincoln, Lincoln, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2008,1,11]]},"reference":[{"key":"2022010406282236500_b1","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1097\/01.all.0000191887.89773.cc","article-title":"TACItly changing tunes: farewell to a yin and yang of BAFF receptor and TACI in humoral immunity? New genetic defects in common variable immunodeficiency","volume":"5","author":"Salzer","year":"2005","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"2022010406282236500_b2","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1002\/humu.9324","article-title":"Identification of novel mutations in patients with Shwachman\u2013Diamond syndrome","volume":"25","author":"Nicolis","year":"2005","journal-title":"Hum Mutat"},{"key":"2022010406282236500_b3","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng1062","article-title":"Mutations in SBDS are associated with Shwachman\u2013Diamond syndrome","volume":"33","author":"Boocock","year":"2003","journal-title":"Nat Genet"},{"key":"2022010406282236500_b4","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1046\/j.1365-2141.2001.02996.x","article-title":"Immune function in patients with Shwachman\u2013Diamond syndrome","volume":"114","author":"Dror","year":"2001","journal-title":"Br J Haematol"},{"key":"2022010406282236500_b5","doi-asserted-by":"crossref","first-page":"e15","DOI":"10.1371\/journal.pmed.0030015","article-title":"A pediatric genetic disorder diagnosed in adulthood","volume":"3","author":"Church","year":"2006","journal-title":"PLoS Med"},{"key":"2022010406282236500_b6","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/S0091-6749(95)70014-5","article-title":"Shwachman\u2013Diamond syndrome associated with hypogammaglobulinemia and growth hormone deficiency","volume":"96","author":"Kornfeld","year":"1995","journal-title":"J Allergy Clin Immunol"},{"key":"2022010406282236500_b7","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1136\/adc.53.8.693-b","article-title":"Hepatic dysfunction and dysgammaglobulinaemia in Shwachman\u2013Diamond syndrome","volume":"53","author":"Maki","year":"1978","journal-title":"Arch Dis Child"},{"key":"2022010406282236500_b8","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/S0022-3476(79)80578-8","article-title":"An inherited defect of neutrophil mobility in Shwachman syndrome","volume":"94","author":"Aggett","year":"1979","journal-title":"J Pediatr"},{"key":"2022010406282236500_b9","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1001\/archinte.1970.00310020120017","article-title":"Pancreatic insufficiency and neutropenia with associated immunoglobulin deficit","volume":"125","author":"Hudson","year":"1970","journal-title":"Arch Int Med"},{"key":"2022010406282236500_b10","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1136\/adc.52.1.76","article-title":"Hepatic dysfunction in association with pancreatic insufficiency and cyclical neutropenia. Shwachman\u2013Diamond syndrome","volume":"52","author":"Brueton","year":"1977","journal-title":"Arch Dis Child"},{"key":"2022010406282236500_b11","volume-title":"CVID diagnostic criteria","author":"European Society for Immunodeficiencies (ESID)"},{"key":"2022010406282236500_b12","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1046\/j.1365-2141.2002.03585.x","article-title":"Shwachman\u2013Diamond syndrome","volume":"118","author":"Dror","year":"2002","journal-title":"Br J Haematol"},{"key":"2022010406282236500_b13","doi-asserted-by":"crossref","first-page":"3011","DOI":"10.1182\/blood.V97.10.3011","article-title":"Shwachman\u2013Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway","volume":"97","author":"Dror","year":"2001","journal-title":"Blood"},{"key":"2022010406282236500_b14","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1097\/01.inf.0000151042.90125.f6","article-title":"Infections in patients with Shwachman\u2013Diamond syndrome","volume":"24","author":"Grinspan","year":"2005","journal-title":"Pediatr Infect Dis J"},{"key":"2022010406282236500_b15","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1038\/ng1601","article-title":"TACI is mutant in common variable immunodeficiency and IgA deficiency","volume":"37","author":"Castigli","year":"2005","journal-title":"Nat Genet"},{"key":"2022010406282236500_b16","doi-asserted-by":"crossref","first-page":"3588","DOI":"10.1182\/blood-2004-04-1516","article-title":"Mutations of the SBDS gene are present in most patients with Shwachman\u2013Diamond syndrome","volume":"104","author":"Woloszynek","year":"2004","journal-title":"Blood"},{"key":"2022010406282236500_b17","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1182\/blood-2005-02-0807","article-title":"The Shwachman\u2013Diamond SBDS protein localizes to the nucleolus","volume":"106","author":"Austin","year":"2005","journal-title":"Blood"},{"key":"2022010406282236500_b18","doi-asserted-by":"crossref","first-page":"19221","DOI":"10.1074\/jbc.M414656200","article-title":"Structural and mutational analysis of the SBDS protein family. 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