{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,11,16]],"date-time":"2022-11-16T05:49:56Z","timestamp":1668577796700},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"06","license":[{"start":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T00:00:00Z","timestamp":1668470400000},"content-version":"vor","delay-in-days":14,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Klin Padiatr"],"published-print":{"date-parts":[[2022,11]]},"abstract":"Congenital amegakaryocytic thrombocytopenia (CAMT) is an autosomal recessive disorder\n characterized by severe thrombocytopenia that presents soon after birth and is\n usually not accompanied by specific somatic malformations [Germeshausen M, Ballmaier\n M. Best Pract Res Clin Haematol 2021; 34: 101286]. CAMT is more prevalent in females\n than males [Ballmaier M, Germeshausen M. Semin Thromb Hemost 2011; 37:\n 673\u2013681; Germeshausen M, Ballmaier M. Haematologica 2021; 106:\n 2439\u20132448], in contrast to other congenital bone marrow failure syndromes.\n Patients with CAMT also exhibit cardiac malformations, cerebellar hypoplasia, growth\n retardation, and a distinctive facial appearance [Yldrm A T, G\u00fcne\u015f B\n T, Oymak Y, et al. Blood Coagul Fibrinolysis 2015; 26: 337\u2013341], although it\n remains unknown whether these are related to CAMT. Mutations in the MPL gene,\n which encodes the thrombopoietin receptor, are the pathogenetic cause of CAMT\n [Germeshausen M, Ballmaier M. Haematologica 2021; 106: 2439\u20132448]. Since\n thrombopoietin is involved in the maintenance of hematopoietic stem cells and\n megakaryocyte development [Germeshausen M, Ballmaier M. Best Pract Res Clin Haematol\n 2021; 34: 101286], CAMT may eventually manifest as a hematopoietic failure.\n Currently, allogeneic hematopoietic stem cell transplantation (HSCT) is the only\n cure for CAMT. Human leukocyte antigen (HLA)-matched siblings are the first-choice\n donors for HSCT because transplantations from matched unrelated donors have a low\n success rate [King S, Germeshausen M, Strauss G, et al. Br J Haematol 2005; 131:\n 636\u2013644]. Cancio et al. [Cancio M, Hebert K, Kim S, et al. Transplant Cell\n Ther 2022; 28: 101 e101\u2013101 e106] reviewed 86 patients treated over 18 years\n and reported that although HLA-mismatched donors can extend the survival of CAMT\n patients, HLA-matched donors are preferred. The present report describes the\n successful treatment of a 3-year-old girl with CAMT using haploidentical allogeneic\n HSCT from the father, even though he harbored a mutant MPL gene.<\/jats:p>","DOI":"10.1055\/a-1933-2583","type":"journal-article","created":{"date-parts":[[2022,11,16]],"date-time":"2022-11-16T00:11:34Z","timestamp":1668557494000},"page":"388-390","source":"Crossref","is-referenced-by-count":0,"title":["Haploidentical Hematopoietic Stem Cell Transplantation in a\n 3-Year-Old Girl with Congenital Amegakaryocytic Thrombocytopenia: A Case\n Report"],"prefix":"10.1055","volume":"234","author":[{"given":"Sisi","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sichuan University West China Second University\n Hospital, Chengdu, China"},{"name":"Sichuan University, Key Laboratory of Birth Defects and Related Diseases of\n Women and Children, Sichuan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sichuan University West China Second University\n Hospital, Chengdu, China"},{"name":"Sichuan University, Key Laboratory of Birth Defects and Related Diseases of\n Women and Children, Sichuan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan","family":"Ai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sichuan University West China Second University\n Hospital, Chengdu, China"},{"name":"Sichuan University, Key Laboratory of Birth Defects and Related Diseases of\n Women and Children, Sichuan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiping","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sichuan University West China Second University\n Hospital, Chengdu, China"},{"name":"Sichuan University, Key Laboratory of Birth Defects and Related Diseases of\n Women and Children, Sichuan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2022,11,15]]},"container-title":["Klinische P\u00e4diatrie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-1933-2583.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,16]],"date-time":"2022-11-16T00:12:06Z","timestamp":1668557526000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-1933-2583"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":0,"journal-issue":{"issue":"06","published-online":{"date-parts":[[2022,11,15]]},"published-print":{"date-parts":[[2022,11]]}},"URL":"https:\/\/doi.org\/10.1055\/a-1933-2583","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0300-8630","1439-3824"],"issn-type":[{"value":"0300-8630","type":"print"},{"value":"1439-3824","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11]]}}}