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We report on an infant with a very severe, fatal clinical course caused by biallelic\n                    <jats:italic>EFL1<\/jats:italic>\n                    variants: c.89A&gt;G, p.(His30Arg), and c.2599A&gt;G, p.(Asn867Asp). Functional analysis of patient\u2010derived B\u2010lymphoblastoid and SV40\u2010transformed fibroblast cell lines suggests that the compound heterozygous\n                    <jats:italic>EFL1<\/jats:italic>\n                    variants impaired mature ribosome formation leading to compromised protein synthesis, ultimately resulting in a severe form of Shwachman\u2013Diamond syndrome.\n                  <\/jats:p>","DOI":"10.1111\/bjh.19793","type":"journal-article","created":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T20:48:23Z","timestamp":1728420503000},"page":"2363-2369","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Shwachman\u2013Diamond syndrome due to biallelic\n                    <scp>\n                      <i>EFL1<\/i>\n                    <\/scp>\n                    variants with complex and fatal clinical course in early infancy"],"prefix":"10.1111","volume":"205","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6923-488X","authenticated-orcid":false,"given":"Holger","family":"Cario","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine University Medical Center Ulm  Ulm Germany"},{"name":"Center for Rare Hematopoietic Disorders and Immunodeficiencies (ZSHI), Rare Disease Center University Medical Center Ulm  Ulm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Bertrand","sequence":"additional","affiliation":[{"name":"Laboratory of Genome Dynamics in the Immune System INSERM UMR 1163, Imagine Institute  Paris France"},{"name":"Universit\u00e9 Paris Cit\u00e9, Imagine Institute  Paris France"},{"name":"Universit\u00e9 Paris\u2010Saclay  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shengjiang","family":"Tan","sequence":"additional","affiliation":[{"name":"Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus  Cambridge UK"},{"name":"Wellcome Trust\u2010Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus  Cambridge UK"},{"name":"Department of Haematology Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge School of Clinical Medicine  Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Auber","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Hannover Medical School  Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Erlacher","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine University Medical Center Ulm  Ulm Germany"},{"name":"Center for Pediatrics and Adolescent Medicine, Pediatric Hematology and Oncology University Medical Center Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva\u2010Maria","family":"Mair","sequence":"additional","affiliation":[{"name":"Division of Neonatology and Pediatric Intensive Care Medicine, Department of Pediatrics and Adolescent Medicine University Medical Center Ulm  Ulm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"von Hardenberg","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Hannover Medical School  Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk","family":"Lebrecht","sequence":"additional","affiliation":[{"name":"Center for Pediatrics and Adolescent Medicine, Pediatric Hematology and Oncology University Medical Center Freiburg  Freiburg 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