{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T07:03:35Z","timestamp":1774595015631,"version":"3.50.1"},"reference-count":38,"publisher":"American Society of Hematology","issue":"1","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,7,4]]},"abstract":"<jats:title>Key Points<\/jats:title><jats:p>A novel clinical syndrome of CSA, B-cell immunodeficiency, periodic fevers, and developmental delay is described. Bone marrow transplant resulted in complete and durable resolution of the hematologic and immunologic manifestations.<\/jats:p>","DOI":"10.1182\/blood-2012-08-439083","type":"journal-article","created":{"date-parts":[[2013,4,4]],"date-time":"2013-04-04T07:09:32Z","timestamp":1365059372000},"page":"112-123","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":108,"title":["A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)"],"prefix":"10.1182","volume":"122","author":[{"given":"Daniel H.","family":"Wiseman","sequence":"first","affiliation":[{"name":"Department of Haematology, Royal Manchester Children\u2019s Hospital, Manchester, United Kingdom;"}]},{"given":"Alison","family":"May","sequence":"additional","affiliation":[{"name":"Department of Haematology, Cardiff University School of Medicine, Cardiff, United Kingdom;"}]},{"given":"Stephen","family":"Jolles","sequence":"additional","affiliation":[{"name":"Department of Immunology, University Hospital of Wales, Cardiff, United Kingdom;"}]},{"given":"Philip","family":"Connor","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Children\u2019s Hospital for Wales, Cardiff, United Kingdom;"}]},{"given":"Colin","family":"Powell","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Experimental Medicine, School of Medicine, Cardiff University, Cardiff, United Kingdom;"}]},{"given":"Matthew M.","family":"Heeney","sequence":"additional","affiliation":[{"name":"Division of Hematology\/Oncology, Boston Children\u2019s Hospital, Boston, MA;"}]},{"given":"Patricia J.","family":"Giardina","sequence":"additional","affiliation":[{"name":"Division of Hematology-Oncology, Children\u2019s Cancer and Blood Foundation Laboratories, Weill Cornell Medical College, New York, NY;"}]},{"given":"Robert J.","family":"Klaassen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children\u2019s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada;"}]},{"given":"Pranesh","family":"Chakraborty","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children\u2019s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada;"}]},{"given":"Michael T.","family":"Geraghty","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children\u2019s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada;"}]},{"given":"Nathalie","family":"Major-Cook","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children\u2019s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada;"}]},{"given":"Caroline","family":"Kannengiesser","sequence":"additional","affiliation":[{"name":"Assistance Publique des Hospitaux de Paris, D\u00e9partement de Biochimie Hormonale et G\u00e9n\u00e9tique, H\u00f4pital Bichat-Claude-Bernard, Paris, France;"},{"name":"INSERM UMR773, Universit\u00e9 Paris Diderot, Paris, France;"}]},{"given":"Isabelle","family":"Thuret","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology, H\u00f4pital de la Timone, Marseilles, France;"}]},{"given":"Alexis A.","family":"Thompson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Northwestern University Feinberg School of Medicine, Ann & Robert H. Lurie Children\u2019s Hospital, Chicago, IL;"}]},{"given":"Laura","family":"Marques","sequence":"additional","affiliation":[{"name":"Paediatric Department, Infectious Diseases and Immunodeficiencies Unit, Centro Hospitalar do Porto, Porto, Portugal;"}]},{"given":"Stephen","family":"Hughes","sequence":"additional","affiliation":[{"name":"Department of Immunology, Royal Manchester Children\u2019s Hospital, Manchester, United Kingdom;"}]},{"given":"Denise K.","family":"Bonney","sequence":"additional","affiliation":[{"name":"Department of Haematology, Royal Manchester Children\u2019s Hospital, Manchester, United Kingdom;"}]},{"given":"Sylvia S.","family":"Bottomley","sequence":"additional","affiliation":[{"name":"Department of Medicine, Hematology-Oncology Section, University of Oklahoma College of Medicine, Oklahoma City, OK; and"}]},{"given":"Mark D.","family":"Fleming","sequence":"additional","affiliation":[{"name":"Department of Pathology, Boston Children\u2019s Hospital, Boston, MA"}]},{"given":"Robert F.","family":"Wynn","sequence":"additional","affiliation":[{"name":"Department of Haematology, Royal Manchester Children\u2019s Hospital, Manchester, United Kingdom;"}]}],"member":"234","reference":[{"issue":"1","key":"2019111816153375700_B1","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1111\/j.1365-2141.2008.07290.x","article-title":"Recent advances in the understanding of inherited sideroblastic anaemia.","volume":"143","author":"Camaschella","year":"2008","journal-title":"Br J Haematol"},{"key":"2019111816153375700_B2","author":"Fleming"},{"issue":"1","key":"2019111816153375700_B3","first-page":"41","article-title":"Congenital sideroblastic anemias.","volume":"5","author":"Bottomley","year":"2006","journal-title":"Curr Hematol Rep"},{"issue":"2","key":"2019111816153375700_B4","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/pbc.22244","article-title":"Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.","volume":"54","author":"Bergmann","year":"2010","journal-title":"Pediatr Blood Cancer"},{"issue":"6","key":"2019111816153375700_B5","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1038\/ng.359","article-title":"Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.","volume":"41","author":"Guernsey","year":"2009","journal-title":"Nat Genet"},{"issue":"6","key":"2019111816153375700_B6","doi-asserted-by":"crossref","first-page":"808","DOI":"10.3324\/haematol.2010.039164","article-title":"Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.","volume":"96","author":"Kannengiesser","year":"2011","journal-title":"Haematologica"},{"issue":"2","key":"2019111816153375700_B7","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/j.bjps.2004.10.024","article-title":"A variant of Cenani-Lenz syndactyly (CLS): review of the literature and attempt of classification.","volume":"58","author":"Harpf","year":"2005","journal-title":"Br J Plast Surg"},{"issue":"24","key":"2019111816153375700_B8","doi-asserted-by":"crossref","first-page":"10775","DOI":"10.1073\/pnas.0912925107","article-title":"Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol.","volume":"107","author":"Richardson","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"5","key":"2019111816153375700_B9","doi-asserted-by":"crossref","first-page":"1867","DOI":"10.1182\/blood-2004-10-3856","article-title":"Iron trafficking in the mitochondrion: novel pathways revealed by disease.","volume":"105","author":"Napier","year":"2005","journal-title":"Blood"},{"issue":"4","key":"2019111816153375700_B10","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1159\/000322870","article-title":"New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine.","volume":"125","author":"Kucerova","year":"2011","journal-title":"Acta Haematol"},{"issue":"7257","key":"2019111816153375700_B11","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1038\/nature08301","article-title":"Function and biogenesis of iron-sulphur proteins.","volume":"460","author":"Lill","year":"2009","journal-title":"Nature"},{"issue":"24","key":"2019111816153375700_B12","doi-asserted-by":"crossref","first-page":"4945","DOI":"10.1021\/bi1004798","article-title":"Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.","volume":"49","author":"Ye","year":"2010","journal-title":"Biochemistry"},{"issue":"4","key":"2019111816153375700_B13","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1182\/blood-2007-02-072520","article-title":"The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.","volume":"110","author":"Camaschella","year":"2007","journal-title":"Blood"},{"issue":"5","key":"2019111816153375700_B14","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1172\/JCI40372","article-title":"Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts.","volume":"120","author":"Ye","year":"2010","journal-title":"J Clin Invest"},{"issue":"5","key":"2019111816153375700_B15","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1093\/hmg\/8.5.743","article-title":"Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA\/A).","volume":"8","author":"Allikmets","year":"1999","journal-title":"Hum Mol Genet"},{"issue":"8","key":"2019111816153375700_B16","doi-asserted-by":"crossref","first-page":"3567","DOI":"10.1182\/blood-2006-04-015768","article-title":"Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.","volume":"109","author":"Pondarre","year":"2007","journal-title":"Blood"},{"issue":"9","key":"2019111816153375700_B17","doi-asserted-by":"crossref","first-page":"3256","DOI":"10.1182\/blood.V96.9.3256","article-title":"Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.","volume":"96","author":"Bekri","year":"2000","journal-title":"Blood"},{"issue":"9","key":"2019111816153375700_B18","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.4065\/80.9.1187","article-title":"Common variable immunodeficiency: test indications and interpretations.","volume":"80","author":"Weiler","year":"2005","journal-title":"Mayo Clin Proc"},{"key":"2019111816153375700_B19","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1111\/j.0105-2896.2005.00233.x","article-title":"Genetic analysis of patients with defects in early B-cell development.","volume":"203","author":"Conley","year":"2005","journal-title":"Immunol Rev"},{"issue":"1","key":"2019111816153375700_B20","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1084\/jem.187.1.71","article-title":"Mutations in the human lambda5\/14.1 gene result in B cell deficiency and agammaglobulinemia.","volume":"187","author":"Minegishi","year":"1998","journal-title":"J Exp Med"},{"issue":"6","key":"2019111816153375700_B21","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1097\/00008480-199912000-00010","article-title":"Recent progress in the diagnosis and treatment of patients with defects in early B-cell development.","volume":"11","author":"Minegishi","year":"1999","journal-title":"Curr Opin Pediatr"},{"issue":"5","key":"2019111816153375700_B22","doi-asserted-by":"crossref","first-page":"e34","DOI":"10.1542\/pir.30-5-e34","article-title":"Periodic fever syndromes.","volume":"30","author":"Goldsmith","year":"2009","journal-title":"Pediatr Rev"},{"issue":"5","key":"2019111816153375700_B23","first-page":"567","article-title":"Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis.","volume":"22","author":"Henderson","year":"2010","journal-title":"Curr Opin Rheumatol"},{"issue":"5","key":"2019111816153375700_B24","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1111\/j.1365-2141.2009.07733.x","article-title":"Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy.","volume":"146","author":"Chae","year":"2009","journal-title":"Br J Haematol"},{"issue":"14","key":"2019111816153375700_B25","doi-asserted-by":"crossref","first-page":"4990","DOI":"10.1073\/pnas.0500253102","article-title":"DNA precursor asymmetries in mammalian tissue mitochondria and possible contribution to mutagenesis through reduced replication fidelity.","volume":"102","author":"Song","year":"2005","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2019111816153375700_B26","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1146\/annurev.neuro.30.051606.094302","article-title":"Mitochondrial disorders in the nervous system.","volume":"31","author":"DiMauro","year":"2008","journal-title":"Annu Rev Neurosci"},{"key":"2019111816153375700_B27","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1146\/annurev-genet-110410-132531","article-title":"Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases.","volume":"45","author":"Suzuki","year":"2011","journal-title":"Annu Rev Genet"},{"issue":"3","key":"2019111816153375700_B28","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/s00415-003-0978-3","article-title":"Mitochondrial cytopathies.","volume":"250","author":"Schmiedel","year":"2003","journal-title":"J Neurol"},{"issue":"3","key":"2019111816153375700_B29","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/S0959-437X(03)00052-2","article-title":"Nuclear genes in mitochondrial disorders.","volume":"13","author":"Zeviani","year":"2003","journal-title":"Curr Opin Genet Dev"},{"issue":"12","key":"2019111816153375700_B30","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1056\/NEJMra1012478","article-title":"Monogenic mitochondrial disorders.","volume":"366","author":"Koopman","year":"2012","journal-title":"N Engl J Med"},{"issue":"2","key":"2019111816153375700_B31","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1159\/000105676","article-title":"Hematological manifestations of primary mitochondrial disorders.","volume":"118","author":"Finsterer","year":"2007","journal-title":"Acta Haematol"},{"issue":"6","key":"2019111816153375700_B32","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1016\/S0022-3476(79)80286-3","article-title":"A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.","volume":"95","author":"Pearson","year":"1979","journal-title":"J Pediatr"},{"issue":"8","key":"2019111816153375700_B33","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1093\/hmg\/4.8.1327","article-title":"Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.","volume":"4","author":"R\u00f6tig","year":"1995","journal-title":"Hum Mol Genet"},{"issue":"3","key":"2019111816153375700_B34","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1203\/01.pdr.0000233252.60457.cf","article-title":"Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.","volume":"60","author":"Reichenbach","year":"2006","journal-title":"Pediatr Res"},{"issue":"5","key":"2019111816153375700_B35","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1097\/00019052-200310000-00004","article-title":"Mitochondrial disorders.","volume":"16","author":"Zeviani","year":"2003","journal-title":"Curr Opin Neurol"},{"issue":"6","key":"2019111816153375700_B36","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1086\/421530","article-title":"Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).","volume":"74","author":"Bykhovskaya","year":"2004","journal-title":"Am J Hum Genet"},{"issue":"20","key":"2019111816153375700_B37","doi-asserted-by":"crossref","first-page":"19823","DOI":"10.1074\/jbc.M500216200","article-title":"Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.","volume":"280","author":"Patton","year":"2005","journal-title":"J Biol Chem"},{"issue":"1","key":"2019111816153375700_B38","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.ajhg.2010.06.001","article-title":"Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia\u2014MLASA syndrome.","volume":"87","author":"Riley","year":"2010","journal-title":"Am J Hum Genet"}],"container-title":["Blood"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/ashpublications.org\/blood\/article-pdf\/122\/1\/112\/1368985\/112.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/ashpublications.org\/blood\/article-pdf\/122\/1\/112\/1368985\/112.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,13]],"date-time":"2022-02-13T01:41:33Z","timestamp":1644716493000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/blood\/article\/122\/1\/112\/31585\/A-novel-syndrome-of-congenital-sideroblastic"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,4]]},"references-count":38,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,7,4]]}},"URL":"https:\/\/doi.org\/10.1182\/blood-2012-08-439083","relation":{},"ISSN":["0006-4971","1528-0020"],"issn-type":[{"value":"0006-4971","type":"print"},{"value":"1528-0020","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,4]]}}}