{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:28Z","timestamp":1753869748934,"version":"3.41.2"},"reference-count":23,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,9,10]],"date-time":"2019-09-10T00:00:00Z","timestamp":1568073600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["GM061354"],"award-info":[{"award-number":["GM061354"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pediatric myelodysplastic syndromes (MDS) display clonal genomic instability that can lead to acquisition of other hematological disorders, usually by loss of heterozygosity. Immunodeficiency caused by uniparental disomy (UPD) has not previously been reported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We investigated a 13\u2010year\u2010old boy who suffered from recurrent infections and pancytopenia for 1\u00a0year. Both the comet assay and chromosome breakage analysis were normal, but the bone marrow showed evidence of dysplasia characteristic of MDS. With his normal sister as donor, he underwent failed hematopoietic stem cell transplantation (HSCT) with reduced intensity conditioning (RIC) followed by successful HSCT with myeloablative conditioning (MAC). We used single nucleotide polymorphism (SNP) array, targeted gene panel, and whole exome sequencing to investigate the etiology of his disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The molecular analyses revealed multiple regions of homozygosity, one region encompassing a homozygous missense variant of recombination activating gene 1 (<jats:italic>RAG1<\/jats:italic>) which was previously associated with severe immunodeficiency in infancy. This <jats:italic>RAG1<\/jats:italic> mutation was heterozygous in the proband\u2019s fingernail DNA, but was changed to homozygous in the proband\u2019s marrow by somatic acquisition of UPD event. No other pathogenic driver mutation for MDS\u2010related genes was identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The hematological phenotype, somatic genomic instability, and response to HSCT MAC but not HSCT RIC deduced to a diagnosis of MDS type refractory cytopenia of children in this patient. His immunodeficiency was secondary to MDS due to somatic acquisition of homozygosity for known pathogenic <jats:italic>RAG1<\/jats:italic> mutation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.923","type":"journal-article","created":{"date-parts":[[2019,9,10]],"date-time":"2019-09-10T12:42:32Z","timestamp":1568119352000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A rare case of acquired immunodeficiency associated with myelodysplastic syndrome"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7098-3095","authenticated-orcid":false,"given":"Juanjuan","family":"Li","sequence":"first","affiliation":[{"name":"Department of Hematology Affiliated Children\u2019s Hospital of Capital Institute of Pediatrics Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junhui","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Hematology Affiliated Children\u2019s Hospital of Capital Institute of Pediatrics Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianguo","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Rheumatology Affiliated Children\u2019s Hospital of Capital Institute of Pediatrics Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hailan","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Molecular Immunology Capital Institute of Pediatrics Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Beijing Municipal Key Laboratory of Child Development and Nutriomics Capital Institute of Pediatrics Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F","family":"Gusella","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit, Center for Genomic Medicine Massachusetts General Hospital Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaodong","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Hematology Affiliated Children\u2019s Hospital of Capital Institute of Pediatrics Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0536-1553","authenticated-orcid":false,"given":"Xiaoli","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Beijing Municipal Key Laboratory of Child Development and Nutriomics Capital Institute of Pediatrics Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,9,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.26120"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-3171"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24400"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-05-2017"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-08-587832"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-05-092304"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.6004\/jnccn.2017.0007"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2015.00142"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.178"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000105752.80592.A3"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2016.149476"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa051113"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-010-9489-z"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2013.10.007"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-10-2900"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.197"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-014-0077-5"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-013-9953-7"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2004.04906.x"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa073966"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humimm.2012.10.010"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3038.2010.01126.x"}],"container-title":["Molecular Genetics &amp; 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