{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T23:04:38Z","timestamp":1792537478176,"version":"4.5.0"},"reference-count":108,"publisher":"American Society of Hematology","issue":"6","license":[{"start":{"date-parts":[[2022,5,23]],"date-time":"2022-05-23T00:00:00Z","timestamp":1653264000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/legalcode"}],"content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,8,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Inherited bone marrow (BM) failure syndromes are a diverse group of disorders characterized by BM failure, usually in association with \u22651 extrahematopoietic abnormalities. BM failure, which can involve \u22651 cell lineages, often presents in the pediatric age group. Furthermore, some children initially labeled as having idiopathic aplastic anemia or myelodysplasia represent cryptic cases of inherited BM failure. Significant advances in the genetics of these syndromes have been made, identifying more than 100 disease genes, giving insights into normal hematopoiesis and how it is disrupted in patients with BM failure. They have also provided important information on fundamental biological pathways, including DNA repair: Fanconi anemia (FA) genes; telomere maintenance: dyskeratosis congenita (DC) genes; and ribosome biogenesis: Shwachman-Diamond syndrome and Diamond-Blackfan anemia genes. In addition, because these disorders are usually associated with extrahematopoietic abnormalities and increased risk of cancer, they have provided insights into human development and cancer. In the clinic, genetic tests stemming from the recent advances facilitate diagnosis, especially when clinical features are insufficient to accurately classify a disorder. Hematopoietic stem cell transplantation using fludarabine-based protocols has significantly improved outcomes, particularly in patients with FA or DC. Management of some other complications, such as cancer, remains a challenge. Recent studies have suggested the possibility of new and potentially more efficacious therapies, including a renewed focus on hematopoietic gene therapy and drugs [transforming growth factor-\u03b2 inhibitors for FA and PAPD5, a human poly(A) polymerase, inhibitors for DC] that target disease-specific defects.<\/jats:p>","DOI":"10.1182\/blood.2020006481","type":"journal-article","created":{"date-parts":[[2022,5,23]],"date-time":"2022-05-23T15:55:22Z","timestamp":1653321322000},"page":"556-570","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":83,"title":["Inherited bone marrow failure in the pediatric patient"],"prefix":"10.1182","volume":"140","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4462-4782","authenticated-orcid":false,"given":"Inderjeet","family":"Dokal","sequence":"first","affiliation":[{"name":"1Centre for Genomics and Child Health, Blizard Institute, London, United Kingdom; and"},{"name":"2Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts Health National Health Service (NHS) Trust, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hemanth","family":"Tummala","sequence":"additional","affiliation":[{"name":"1Centre for Genomics and Child Health, Blizard Institute, London, United Kingdom; and"},{"name":"2Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts Health National Health Service (NHS) Trust, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Vulliamy","sequence":"additional","affiliation":[{"name":"1Centre for Genomics and Child Health, Blizard Institute, London, United Kingdom; and"},{"name":"2Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts Health National Health Service (NHS) Trust, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"issue":"3","key":"2022081115222874200_B1","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.blre.2010.03.002","article-title":"Pathophysiology and management of inherited bone marrow failure syndromes","volume":"24","author":"Shimamura","year":"2010","journal-title":"Blood Rev."},{"key":"2022081115222874200_B2","first-page":"257","article-title":"Familiare infantile pernziosaartige anaemie (pernizioses Blutbild und Konstitution)","volume":"117","author":"Fanconi","year":"1927","journal-title":"Jahrb Kinderh."},{"key":"2022081115222874200_B3","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.gde.2015.07.002","article-title":"Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics","volume":"33","author":"Bogliolo","year":"2015","journal-title":"Curr Opin Genet Dev."},{"issue":"6372","key":"2022081115222874200_B4","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1038\/356763a0","article-title":"Cloning of cDNAs for Fanconi\u2019s anaemia by functional complementation [published correction appears in","volume":"356","author":"Strathdee","year":"1992","journal-title":"Nature."},{"issue":"3","key":"2022081115222874200_B5","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1038\/ng1196-320","article-title":"Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA [published correction appears in","volume":"14","author":"Lo Ten Foe","year":"1996","journal-title":"Nat Genet"},{"issue":"3","key":"2022081115222874200_B6","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1038\/3093","article-title":"The Fanconi anaemia group G gene FANCG is identical with XRCC9","volume":"20","author":"de Winter","year":"1998","journal-title":"Nat Genet."},{"issue":"5","key":"2022081115222874200_B7","doi-asserted-by":"crossref","first-page":"1306","DOI":"10.1016\/S0002-9297(07)62959-0","article-title":"Isolation of a cDNA representing the Fanconi anemia complementation group E gene","volume":"67","author":"de Winter","year":"2000","journal-title":"Am J Hum Genet."},{"issue":"1","key":"2022081115222874200_B8","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/71626","article-title":"The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM","volume":"24","author":"de Winter","year":"2000","journal-title":"Nat Genet."},{"issue":"2","key":"2022081115222874200_B9","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/S1097-2765(01)00172-1","article-title":"Positional cloning of a novel Fanconi anemia gene, FANCD2","volume":"7","author":"Timmers","year":"2001","journal-title":"Mol Cell."},{"issue":"5581","key":"2022081115222874200_B10","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1126\/science.1073834","article-title":"Biallelic inactivation of BRCA2 in Fanconi anemia","volume":"297","author":"Howlett","year":"2002","journal-title":"Science."},{"issue":"11","key":"2022081115222874200_B11","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1038\/ng1458","article-title":"X-linked inheritance of Fanconi anemia complementation group B","volume":"36","author":"Meetei","year":"2004","journal-title":"Nat Genet."},{"issue":"9","key":"2022081115222874200_B12","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1038\/ng1625","article-title":"The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J","volume":"37","author":"Levitus","year":"2005","journal-title":"Nat Genet."},{"issue":"2","key":"2022081115222874200_B13","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1038\/ng1947","article-title":"Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer","volume":"39","author":"Reid","year":"2007","journal-title":"Nat Genet."},{"issue":"2","key":"2022081115222874200_B14","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.cell.2007.03.009","article-title":"Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair","volume":"129","author":"Smogorzewska","year":"2007","journal-title":"Cell."},{"issue":"5","key":"2022081115222874200_B15","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/ng.570","article-title":"Mutation of the RAD51C gene in a Fanconi anemia-like disorder","volume":"42","author":"Vaz","year":"2010","journal-title":"Nat Genet."},{"issue":"2","key":"2022081115222874200_B16","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1038\/ng.751","article-title":"SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype","volume":"43","author":"Stoepker","year":"2011","journal-title":"Nat Genet."},{"issue":"5","key":"2022081115222874200_B17","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1016\/j.ajhg.2013.04.002","article-title":"Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia","volume":"92","author":"Bogliolo","year":"2013","journal-title":"Am J Hum Genet."},{"issue":"6","key":"2022081115222874200_B18","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/j.ajhg.2015.04.022","article-title":"Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia","volume":"96","author":"Hira","year":"2015","journal-title":"Am J Hum Genet."},{"issue":"3","key":"2022081115222874200_B19","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1172\/JCI92946","article-title":"Biallelic inactivation of REV7 is associated with Fanconi anemia","volume":"127","author":"Bluteau","year":"2017","journal-title":"J Clin Invest."},{"issue":"8","key":"2022081115222874200_B20","doi-asserted-by":"crossref","first-page":"3013","DOI":"10.1172\/JCI92069","article-title":"Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia","volume":"127","author":"Knies","year":"2017","journal-title":"J Clin Invest."},{"issue":"10","key":"2022081115222874200_B21","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1038\/nrg2159","article-title":"Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins","volume":"8","author":"Wang","year":"2007","journal-title":"Nat Rev Genet."},{"issue":"2","key":"2022081115222874200_B22","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/path.3002","article-title":"The Fanconi anaemia pathway orchestrates incisions at sites of crosslinked DNA","volume":"226","author":"Crossan","year":"2012","journal-title":"J Pathol."},{"issue":"7687","key":"2022081115222874200_B23","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/nature25154","article-title":"Alcohol and endogenous aldehydes damage chromosomes and mutate stem cells","volume":"553","author":"Garaycoechea","year":"2018","journal-title":"Nature."},{"issue":"6","key":"2022081115222874200_B24","doi-asserted-by":"crossref","first-page":"2053","DOI":"10.1182\/blood-2003-01-0114","article-title":"TNF-alpha and IFN-gamma are overexpressed in the bone marrow of Fanconi anemia patients and TNF-alpha suppresses erythropoiesis in\u00a0vitro","volume":"102","author":"Dufour","year":"2003","journal-title":"Blood."},{"issue":"7","key":"2022081115222874200_B25","doi-asserted-by":"crossref","first-page":"2561","DOI":"10.1073\/pnas.1811557116","article-title":"Fanconi anemia protein FANCI functions in ribosome biogenesis","volume":"116","author":"Sondalle","year":"2019","journal-title":"Proc Natl Acad Sci USA."},{"key":"2022081115222874200_B26","first-page":"219","article-title":"Atrophia Cutis Reticularis cum Pigmentations, Dystrophia Unguium et Leukoplakis oris (Poikioodermia atrophicans vascularis Jacobi.)","volume":"5","author":"Zinsser","year":"1910","journal-title":"Ikonographia Dermatologica."},{"issue":"4","key":"2022081115222874200_B27","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1046\/j.1365-2141.2000.02109.x","article-title":"Dyskeratosis congenita in all its forms","volume":"110","author":"Dokal","year":"2000","journal-title":"Br J Haematol."},{"issue":"1","key":"2022081115222874200_B28","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/s10456-018-9640-7","article-title":"Understanding the evolving phenotype of vascular complications in telomere biology disorders","volume":"22","author":"Higgs","year":"2019","journal-title":"Angiogenesis."},{"issue":"1","key":"2022081115222874200_B29","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/ng0598-32","article-title":"X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions","volume":"19","author":"Heiss","year":"1998","journal-title":"Nat Genet."},{"issue":"6854","key":"2022081115222874200_B30","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1038\/35096585","article-title":"The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita","volume":"413","author":"Vulliamy","year":"2001","journal-title":"Nature."},{"issue":"44","key":"2022081115222874200_B31","doi-asserted-by":"crossref","first-page":"15960","DOI":"10.1073\/pnas.0508124102","article-title":"Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita","volume":"102","author":"Armanios","year":"2005","journal-title":"Proc Natl Acad Sci USA."},{"issue":"13","key":"2022081115222874200_B32","doi-asserted-by":"crossref","first-page":"4198","DOI":"10.1182\/blood-2006-12-062851","article-title":"Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome","volume":"110","author":"Marrone","year":"2007","journal-title":"Blood."},{"issue":"13","key":"2022081115222874200_B33","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1093\/hmg\/ddm111","article-title":"Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10","volume":"16","author":"Walne","year":"2007","journal-title":"Hum Mol Genet."},{"issue":"23","key":"2022081115222874200_B34","doi-asserted-by":"crossref","first-page":"8073","DOI":"10.1073\/pnas.0800042105","article-title":"Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita","volume":"105","author":"Vulliamy","year":"2008","journal-title":"Proc Natl Acad Sci USA."},{"issue":"2","key":"2022081115222874200_B35","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.ajhg.2007.10.004","article-title":"TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita","volume":"82","author":"Savage","year":"2008","journal-title":"Am J Hum Genet."},{"issue":"22","key":"2022081115222874200_B36","doi-asserted-by":"crossref","first-page":"4453","DOI":"10.1093\/hmg\/ddq371","article-title":"Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome","volume":"19","author":"Walne","year":"2010","journal-title":"Hum Mol Genet."},{"issue":"1","key":"2022081115222874200_B37","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1101\/gad.2006411","article-title":"Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita","volume":"25","author":"Zhong","year":"2011","journal-title":"Genes Dev."},{"issue":"3","key":"2022081115222874200_B38","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.ajhg.2013.02.001","article-title":"Constitutional mutations in RTEL1 cause severe dyskeratosis congenita","volume":"92","author":"Walne","year":"2013","journal-title":"Am J Hum Genet."},{"issue":"5","key":"2022081115222874200_B39","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1172\/JCI78963","article-title":"Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita","volume":"125","author":"Tummala","year":"2015","journal-title":"J Clin Invest."},{"issue":"351","key":"2022081115222874200_B40","doi-asserted-by":"crossref","first-page":"351ra107","DOI":"10.1126\/scitranslmed.aaf7837","article-title":"Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema","volume":"8","author":"Stanley","year":"2016","journal-title":"Sci Transl Med."},{"issue":"19-20","key":"2022081115222874200_B41","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1101\/gad.326785.119","article-title":"ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation","volume":"33","author":"Gable","year":"2019","journal-title":"Genes Dev."},{"issue":"10","key":"2022081115222874200_B42","doi-asserted-by":"crossref","first-page":"1518","DOI":"10.1038\/s41588-019-0502-z","article-title":"Germline NPM1 mutations lead to altered rRNA 2\u2032-O-methylation and cause dyskeratosis congenita","volume":"51","author":"Nachmani","year":"2019","journal-title":"Nat Genet."},{"issue":"15","key":"2022081115222874200_B43","doi-asserted-by":"crossref","first-page":"eaay3511","DOI":"10.1126\/sciadv.aay3511","article-title":"Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance","volume":"6","author":"Toufektchan","year":"2020","journal-title":"Sci Adv."},{"issue":"6761","key":"2022081115222874200_B44","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1038\/990141","article-title":"A telomerase component is defective in the human disease dyskeratosis congenita","volume":"402","author":"Mitchell","year":"1999","journal-title":"Nature."},{"issue":"10","key":"2022081115222874200_B45","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1038\/nchembio.2007.38","article-title":"Telomere length, stem cells and aging","volume":"3","author":"Blasco","year":"2007","journal-title":"Nat Chem Biol."},{"issue":"9324","key":"2022081115222874200_B46","doi-asserted-by":"crossref","first-page":"2168","DOI":"10.1016\/S0140-6736(02)09087-6","article-title":"Association between aplastic anaemia and mutations in telomerase RNA","volume":"359","author":"Vulliamy","year":"2002","journal-title":"Lancet."},{"issue":"14","key":"2022081115222874200_B47","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1056\/NEJMoa042980","article-title":"Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia","volume":"352","author":"Yamaguchi","year":"2005","journal-title":"N Engl J Med."},{"issue":"13","key":"2022081115222874200_B48","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1056\/NEJMoa066157","article-title":"Telomerase mutations in families with idiopathic pulmonary fibrosis","volume":"356","author":"Armanios","year":"2007","journal-title":"N Engl J Med."},{"issue":"11","key":"2022081115222874200_B49","doi-asserted-by":"crossref","first-page":"e7926","DOI":"10.1371\/journal.pone.0007926","article-title":"A spectrum of severe familial liver disorders associate with telomerase mutations","volume":"4","author":"Calado","year":"2009","journal-title":"PLoS One."},{"issue":"4","key":"2022081115222874200_B50","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1073\/pnas.0807057106","article-title":"Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia","volume":"106","author":"Calado","year":"2009","journal-title":"Proc Natl Acad Sci USA."},{"issue":"11","key":"2022081115222874200_B51","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1002\/humu.21115","article-title":"Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia","volume":"30","author":"Kirwan","year":"2009","journal-title":"Hum Mutat."},{"issue":"2","key":"2022081115222874200_B52","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1046\/j.1365-2141.1999.01690.x","article-title":"Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1","volume":"107","author":"Knight","year":"1999","journal-title":"Br J Haematol."},{"key":"2022081115222874200_B53","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1006\/bcmd.2001.0389","article-title":"Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita","volume":"27","author":"Vulliamy","year":"2001","journal-title":"Blood Cells Mol Dis."},{"issue":"5","key":"2022081115222874200_B54","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1016\/S0022-3476(64)80150-5","article-title":"The syndrome of pancreatic insufficiency and bone marrow dysfunction","volume":"65","author":"Shwachman","year":"1964","journal-title":"J Pediatr."},{"issue":"3","key":"2022081115222874200_B55","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1046\/j.1365-2141.2002.03585.x","article-title":"Shwachman-diamond syndrome","volume":"118","author":"Dror","year":"2002","journal-title":"Br J Haematol."},{"issue":"1","key":"2022081115222874200_B56","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng1062","article-title":"Mutations in SBDS are associated with Shwachman-Diamond syndrome","volume":"33","author":"Boocock","year":"2003","journal-title":"Nat Genet."},{"key":"2022081115222874200_B57","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.jbior.2017.09.002","article-title":"Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome","volume":"67","author":"Warren","year":"2018","journal-title":"Adv Biol Regul."},{"issue":"3","key":"2022081115222874200_B58","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1097\/00005792-193615030-00001","article-title":"Anemia of infancy and early childhood","volume":"15","author":"Josephs","year":"1936","journal-title":"Medicine (Baltimore)."},{"issue":"5","key":"2022081115222874200_B59","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1002\/pbc.20642","article-title":"Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry","volume":"46","author":"Lipton","year":"2006","journal-title":"Pediatr Blood Cancer."},{"issue":"2","key":"2022081115222874200_B60","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1038\/5951","article-title":"The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia","volume":"21","author":"Draptchinskaia","year":"1999","journal-title":"Nat Genet."},{"issue":"12","key":"2022081115222874200_B61","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1002\/humu.20608","article-title":"Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia","volume":"28","author":"Cmejla","year":"2007","journal-title":"Hum Mutat."},{"issue":"6","key":"2022081115222874200_B62","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.ajhg.2008.11.004","article-title":"Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients","volume":"83","author":"Gazda","year":"2008","journal-title":"J Hum Genet."},{"issue":"5","key":"2022081115222874200_B63","doi-asserted-by":"crossref","first-page":"1582","DOI":"10.1182\/blood-2008-02-140012","article-title":"Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia","volume":"112","author":"Farrar","year":"2008","journal-title":"Blood."},{"issue":"9","key":"2022081115222874200_B64","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1093\/hmg\/ddn015","article-title":"Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder","volume":"17","author":"Choesmel","year":"2008","journal-title":"Hum Mol Genet."},{"issue":"2","key":"2022081115222874200_B65","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1016\/j.ajhg.2009.12.015","article-title":"Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia","volume":"86","author":"Doherty","year":"2010","journal-title":"Am J Hum Genet."},{"issue":"7","key":"2022081115222874200_B66","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1002\/humu.22081","article-title":"Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia","volume":"33","author":"Gazda","year":"2012","journal-title":"Hum Mutat."},{"issue":"11","key":"2022081115222874200_B67","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1007\/s00439-013-1326-z","article-title":"Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia","volume":"132","author":"Landowski","year":"2013","journal-title":"Hum Genet."},{"issue":"6","key":"2022081115222874200_B68","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1016\/j.ajhg.2018.10.027","article-title":"The Genetic landscape of Diamond-Blackfan anemia [published correction appears in","volume":"103","author":"Ulirsch","year":"2018","journal-title":"Am J Hum Genet."},{"issue":"7","key":"2022081115222874200_B69","doi-asserted-by":"crossref","first-page":"2439","DOI":"10.1172\/JCI63597","article-title":"Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia","volume":"122","author":"Sankaran","year":"2012","journal-title":"J Clin Invest."},{"issue":"4","key":"2022081115222874200_B70","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1111\/j.1365-2141.2005.05757.x","article-title":"Advances in the understanding of the congenital dyserythropoietic anaemias","volume":"131","author":"Wickramasinghe","year":"2005","journal-title":"Br J Haematol."},{"issue":"13","key":"2022081115222874200_B71","doi-asserted-by":"crossref","first-page":"2162","DOI":"10.1182\/blood-2013-05-468223","article-title":"Congenital dyserythropoietic anemias: molecular insights and diagnostic approach","volume":"122","author":"Iolascon","year":"2013","journal-title":"Blood."},{"key":"2022081115222874200_B72","article-title":"Congenital Dyserythropoietic Anaemia","volume-title":"Presented at the Eleventh Congress of the International Society of Haematology","author":"Crookston","year":"1966"},{"key":"2022081115222874200_B73","first-page":"103","article-title":"Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts","volume":"34","author":"Heimpel","year":"1968","journal-title":"Helv Med Acta."},{"issue":"6","key":"2022081115222874200_B74","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1086\/344781","article-title":"Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1","volume":"71","author":"Dgany","year":"2002","journal-title":"Am J Hum Genet."},{"issue":"9","key":"2022081115222874200_B75","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.3324\/haematol.2013.089490","article-title":"Homozygous mutations in a predicted endonuclease are\u00a0a novel cause of congenital dyserythropoietic anemia type I","volume":"98","author":"Babbs","year":"2013","journal-title":"Haematologica."},{"issue":"1","key":"2022081115222874200_B76","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/j.1365-2141.1969.tb05660.x","article-title":"Hereditary erythroblastic multinuclearity associated with a positive acidified-serum test: a type of congenital dyserythropoietic anaemia","volume":"17","author":"Crookston","year":"1969","journal-title":"Br J Haematol."},{"issue":"8","key":"2022081115222874200_B77","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1038\/ng.405","article-title":"Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II","volume":"41","author":"Schwarz","year":"2009","journal-title":"Nat Genet."},{"issue":"23","key":"2022081115222874200_B78","doi-asserted-by":"crossref","first-page":"4791","DOI":"10.1182\/blood-2012-10-461392","article-title":"Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23","volume":"121","author":"Liljeholm","year":"2013","journal-title":"Blood."},{"issue":"5","key":"2022081115222874200_B79","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/j.ajhg.2010.10.010","article-title":"A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia","volume":"87","author":"Arnaud","year":"2010","journal-title":"Am J Hum Genet."},{"key":"2022081115222874200_B80","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.hoc.2009.01.013","article-title":"Severe congenital neutropenia","volume":"23","author":"Welte","year":"2009","journal-title":"Hematol\u00a0Oncol Clin North Am."},{"issue":"6","key":"2022081115222874200_B81","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1097\/ACI.0000000000000014","article-title":"Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes","volume":"13","author":"Hauck","year":"2013","journal-title":"Curr Opin Allergy Clin Immunol."},{"issue":"7","key":"2022081115222874200_B82","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1182\/blood.V96.7.2317","article-title":"Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia","volume":"96","author":"Dale","year":"2000","journal-title":"Blood."},{"issue":"1","key":"2022081115222874200_B83","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1038\/ng1940","article-title":"HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)","volume":"39","author":"Klein","year":"2007","journal-title":"Nat Genet."},{"issue":"3","key":"2022081115222874200_B84","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1038\/ng1170","article-title":"Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2","volume":"34","author":"Person","year":"2003","journal-title":"Nat Genet."},{"issue":"1","key":"2022081115222874200_B85","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1056\/NEJMoa0805051","article-title":"A syndrome with congenital neutropenia and mutations in G6PC3","volume":"360","author":"Boztug","year":"2009","journal-title":"N Engl J Med."},{"issue":"1","key":"2022081115222874200_B86","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1056\/NEJMoa1301296","article-title":"A congenital neutrophil defect syndrome associated with mutations in VPS45","volume":"369","author":"Vilboux","year":"2013","journal-title":"N Engl J Med."},{"issue":"6","key":"2022081115222874200_B87","doi-asserted-by":"crossref","first-page":"3132","DOI":"10.1073\/pnas.96.6.3132","article-title":"Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia","volume":"96","author":"Ihara","year":"1999","journal-title":"Proc Natl Acad Sci USA."},{"issue":"7","key":"2022081115222874200_B88","doi-asserted-by":"crossref","first-page":"e284","DOI":"10.3324\/haematol.2017.183855","article-title":"Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease","volume":"103","author":"Walne","year":"2018","journal-title":"Haematologica."},{"issue":"7","key":"2022081115222874200_B89","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1182\/blood-2017-09-806489","article-title":"A landscape of germ line mutations in a cohort of inherited bone marrow failure patients","volume":"131","author":"Bluteau","year":"2018","journal-title":"Blood."},{"key":"2022081115222874200_B90","doi-asserted-by":"crossref","first-page":"7777","DOI":"10.1073\/pnas.1803275115","article-title":"Genome instability is a consequence of transcription deficiency in bone marrow failure patients harboring biallelic ERCC6L2 variants","volume":"115","author":"Tummala","year":"2018","journal-title":"Proc Natl Acad Sci USA."},{"issue":"1","key":"2022081115222874200_B91","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1038\/s41467-020-14829-5","article-title":"The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants","volume":"11","author":"Rio-Machin","year":"2020","journal-title":"Nat Commun."},{"issue":"8","key":"2022081115222874200_B92","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.3324\/haematol.2009.018119","article-title":"Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry","volume":"95","author":"Tamary","year":"2010","journal-title":"Haematologica."},{"issue":"9","key":"2022081115222874200_B93","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1136\/jmg.2011.089821","article-title":"Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations","volume":"48","author":"Tsangaris","year":"2011","journal-title":"J Med Genet."},{"issue":"5","key":"2022081115222874200_B94","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1182\/blood-2007-02-075598","article-title":"Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita","volume":"110","author":"Alter","year":"2007","journal-title":"Blood."},{"issue":"4","key":"2022081115222874200_B95","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1002\/ajmg.a.38142","article-title":"Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology","volume":"173","author":"Ripperger","year":"2017","journal-title":"Am J Med Genet A."},{"issue":"2","key":"2022081115222874200_B96","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.bcmd.2011.11.006","article-title":"Treatment of the bone marrow failure in Fanconi anemia patients with danazol","volume":"48","author":"Scheckenbach","year":"2012","journal-title":"Blood Cells Mol Dis."},{"issue":"20","key":"2022081115222874200_B97","doi-asserted-by":"crossref","first-page":"1922","DOI":"10.1056\/NEJMoa1515319","article-title":"Danazol treatment for telomere diseases","volume":"374","author":"Townsley","year":"2016","journal-title":"N Engl J Med."},{"issue":"7","key":"2022081115222874200_B98","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1038\/sj.bmt.1704219","article-title":"Non-TBI stem cell transplantation protocol for Fanconi anaemia using HLA-compatible sibling and unrelated donors [published correction appears in","volume":"32","author":"de la Fuente","year":"2003","journal-title":"Bone Marrow Transplant."},{"issue":"1","key":"2022081115222874200_B99","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1080\/17474086.2016.1268048","article-title":"Hematopoietic cell transplantation in Fanconi anemia: current evidence, challenges and recommendations","volume":"10","author":"Ebens","year":"2017","journal-title":"Expert Rev Hematol."},{"issue":"8","key":"2022081115222874200_B100","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1007\/s00277-017-3041-7","article-title":"Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes","volume":"96","author":"Li","year":"2017","journal-title":"Ann Hematol."},{"issue":"1","key":"2022081115222874200_B101","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1038\/bmt.2010.65","article-title":"Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita","volume":"46","author":"Dietz","year":"2011","journal-title":"Bone Marrow Transplant."},{"issue":"1","key":"2022081115222874200_B102","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1111\/bjh.15495","article-title":"Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita","volume":"183","author":"Fioredda","year":"2018","journal-title":"Br J Haematol."},{"issue":"9","key":"2022081115222874200_B103","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1038\/s41591-019-0550-z","article-title":"Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia","volume":"25","author":"R\u00edo","year":"2019","journal-title":"Nat Med."},{"issue":"5","key":"2022081115222874200_B104","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1016\/j.stem.2016.03.002","article-title":"TGF-P Inhibition rescues hematopoietic stem cell defects and bone marrow failure in Fanconi anemia","volume":"18","author":"Zhang","year":"2016","journal-title":"Cell Stem Cell."},{"issue":"6","key":"2022081115222874200_B105","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1016\/j.stem.2020.03.016","article-title":"Small-molecule PAPD5 inhibitors restore telomerase activity in patient stem cells","volume":"26","author":"Nagpal","year":"2020","journal-title":"Cell Stem Cell."},{"issue":"5","key":"2022081115222874200_B106","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1111\/bjh.12787","article-title":"Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry","volume":"165","author":"Fagioli","year":"2014","journal-title":"Br J Haematol."},{"issue":"8","key":"2022081115222874200_B107","doi-asserted-by":"crossref","first-page":"e335","DOI":"10.3324\/haematol.2018.206623","article-title":"Stem cell transplantation for congenital dyserythropoietic anemia: an analysis from the European Society for Blood and Marrow Transplantation","volume":"104","author":"Miano","year":"2019","journal-title":"Haematologica."},{"issue":"16","key":"2022081115222874200_B108","doi-asserted-by":"crossref","first-page":"1885","DOI":"10.1182\/blood-2015-02-628859","article-title":"Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation","volume":"126","author":"Fioredda","year":"2015","journal-title":"Blood."}],"container-title":["Blood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/ashpublications.org\/blood\/article-pdf\/140\/6\/556\/1912887\/bloodbld2020006481c.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/ashpublications.org\/blood\/article-pdf\/140\/6\/556\/1912887\/bloodbld2020006481c.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,11]],"date-time":"2022-08-11T11:25:07Z","timestamp":1660217107000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/blood\/article\/140\/6\/556\/485319\/Inherited-bone-marrow-failure-in-the-pediatric"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,11]]},"references-count":108,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,8,11]]}},"URL":"https:\/\/doi.org\/10.1182\/blood.2020006481","relation":{},"ISSN":["0006-4971","1528-0020"],"issn-type":[{"value":"0006-4971","type":"print"},{"value":"1528-0020","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,11]]}}}