{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T05:45:36Z","timestamp":1777355136893,"version":"3.51.4"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2001,8,1]],"date-time":"2001-08-01T00:00:00Z","timestamp":996624000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2001,8,1]],"date-time":"2001-08-01T00:00:00Z","timestamp":996624000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Bone Marrow Transplant"],"published-print":{"date-parts":[[2001,8,1]]},"DOI":"10.1038\/sj.bmt.1703114","type":"journal-article","created":{"date-parts":[[2002,9,17]],"date-time":"2002-09-17T16:37:42Z","timestamp":1032280662000},"page":"409-412","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT"],"prefix":"10.1038","volume":"28","author":[{"given":"F","family":"Schuster","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"DK","family":"Stachel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Schmid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"FAM","family":"Baumeister","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"UB","family":"Graubner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Wei\u00df","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"RJ","family":"Haas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"BH","family":"Belohradsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2001,9,18]]},"reference":[{"key":"BF1703114_CR1","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1016\/0002-9343(78)90858-6","volume":"65","author":"C Griscelli","year":"1978","unstructured":"Griscelli C, Durandy A, Guy-Grand D et al. A syndrome associating partial albinism and immunodeficiency Am J Med 1978 65: 691\u2013702","journal-title":"Am J Med"},{"key":"BF1703114_CR2","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1038\/ng0797-289","volume":"16","author":"E Pastural","year":"1997","unstructured":"Pastural E, Barrat FJ, Dufourcq-Lagelouse R et al. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va Gen Nat Genet 1997 16: 289\u2013292","journal-title":"Nat Genet"},{"key":"BF1703114_CR3","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1006\/geno.1999.6081","volume":"63","author":"E Pastural","year":"2000","unstructured":"Pastural E, Ersoy F, Yalman N et al. Two genes are responsible for Griscelli syndrome at the same 15q21 locus Genomics 2000 63: 299\u2013306","journal-title":"Genomics"},{"key":"BF1703114_CR4","doi-asserted-by":"crossref","first-page":"2319","DOI":"10.1182\/blood.V82.8.2319.2319","volume":"82","author":"JL Stephan","year":"1993","unstructured":"Stephan JL, Donadieu J, LeDeist F et al. Treatment of hemophagocytic lymphohistiozytosis with antithymocyte globulins, steroids and cyclosporin A Blood 1993 82: 2319\u20132323","journal-title":"Blood"},{"key":"BF1703114_CR5","doi-asserted-by":"publisher","first-page":"886","DOI":"10.1016\/S0022-3476(05)82003-7","volume":"125","author":"C Klein","year":"1994","unstructured":"Klein C, Philippe N, LeDeist F et al. Partial albinism with immunodeficiency (Griscelli syndrome) J Pediatr 1994 125: 886\u2013895","journal-title":"J Pediatr"},{"key":"BF1703114_CR6","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1007\/BF00917914","volume":"10","author":"L Schneider","year":"1990","unstructured":"Schneider L, Berman R, Shea C et al. Bone marrow transplantation (BMT) for the syndrome of pigmentary dilution and lymphohistiocytosis (Griscelli's syndrome) J Clin Immunol 1990 10: 146\u2013153","journal-title":"J Clin Immunol"},{"key":"BF1703114_CR7","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1007\/PL00013808","volume":"159","author":"F Baumeister","year":"2000","unstructured":"Baumeister F, Stachel D, Schuster F et al. Accelerated phase in partial albinism with immunodeficency (Griscelli syndrome): genetics and stem cell transplantation in a 2-month-old girl Eur J Pediatr 2000 159: 74\u201378","journal-title":"Eur J Pediatr"},{"key":"BF1703114_CR8","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1002\/1096-911X(20001101)35:5<503::AID-MPO12>3.0.CO;2-D","volume":"35","author":"DK Stachel","year":"2000","unstructured":"Stachel DK, Schmid I, Schuster F et al. Lymphoproliferative syndrome in an infant after stem cell transplantation: successful therapy with T-lymphocytes and anti-CD20 monoclonal antibodies Med Pediatr Oncol 2000 35: 503\u2013505","journal-title":"Med Pediatr Oncol"},{"key":"BF1703114_CR9","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1016\/S0190-9622(98)70568-7","volume":"38","author":"A Mancini","year":"1998","unstructured":"Mancini A, Chan L, Paller A . Partial albinism with immunodeficiency: Griscelli syndrome: Report of a case and review of the literature J Am Acad Dermatol 1998 38: 295\u2013300","journal-title":"J Am Acad Dermatol"},{"key":"BF1703114_CR10","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1038\/76024","volume":"25","author":"G M\u00e9nasch\u00e9","year":"2000","unstructured":"M\u00e9nasch\u00e9 G, Pastural E, Feldmann J et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome Nat Genet 2000 25: 173\u2013176","journal-title":"Nat Genet"},{"key":"BF1703114_CR11","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1046\/j.1523-1747.1998.00395.x","volume":"111","author":"J Lambert","year":"1998","unstructured":"Lambert J, Onderwater J, Vander Haeghen Y et al. Myosin V colocalizes with melanosomes and subcortical actin bundles not associated with stress fibers in human epidermal melanocytes J Invest Dermatol 1998 111: 835\u2013840","journal-title":"J Invest Dermatol"},{"key":"BF1703114_CR12","doi-asserted-by":"publisher","first-page":"1589","DOI":"10.1083\/jcb.137.7.1589","volume":"137","author":"R Prekeris","year":"1997","unstructured":"Prekeris R, Terrian DM . Brain myosin V is a synaptic vesicle-associated motor protein: evidence for a Ca2+-dependent interaction with the synaptobrevin\u2013synaptophysin complex J Cell Biol 1997 137: 1589\u20131601","journal-title":"J Cell Biol"},{"key":"BF1703114_CR13","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1007\/BF01955897","volume":"152","author":"H Hurvitz","year":"1993","unstructured":"Hurvitz H, Gillis R, Klaus S et al. A kindred with Griscelli disease: spectrum of neurological involvement Eur J Pediatr 1993 152: 402\u2013405","journal-title":"Eur J Pediatr"},{"key":"BF1703114_CR14","doi-asserted-by":"publisher","first-page":"1957","DOI":"10.1126\/science.286.5446.1957","volume":"286","author":"SE Stepp","year":"1999","unstructured":"Stepp SE, Dufourcq-Lagelouse R, LeDeist F et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis Science 1999 286: 1957\u20131959","journal-title":"Science"},{"key":"BF1703114_CR15","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/S0022-3476(86)81002-2","volume":"108","author":"A Fischer","year":"1986","unstructured":"Fischer A, Cerf-Bensussan N, Blache S et al. Allogenic bone marrow transplantation for erythrophagocytic lymphohistiocytosis J Pediatr 1986 108: 267\u2013270","journal-title":"J Pediatr"},{"key":"BF1703114_CR16","doi-asserted-by":"publisher","first-page":"1080","DOI":"10.1016\/S0140-6736(86)90477-0","volume":"2","author":"A Fischer","year":"1986","unstructured":"Fischer A, Griscelli C, Friedrich W et al. Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European Survey 1968\u20131985 Lancet 1986 2: 1080\u20131084","journal-title":"Lancet"},{"key":"BF1703114_CR17","doi-asserted-by":"crossref","first-page":"4743","DOI":"10.1182\/blood.V90.12.4743","volume":"90","author":"N Jabado","year":"1997","unstructured":"Jabado N, de Graeff-Meeder E, Cavazzana-Calvo M et al. Treatment of familial hemophagocytic lymphohistiocytosis with bone marrow transplantation from HLA genetically nonidentical donors Blood 1997 90: 4743\u20134748","journal-title":"Blood"}],"container-title":["Bone Marrow Transplantation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/1703114","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/1703114.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/1703114.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,23]],"date-time":"2022-03-23T22:29:20Z","timestamp":1648074560000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/1703114"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,8,1]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2001,8,1]]}},"alternative-id":["BF1703114"],"URL":"https:\/\/doi.org\/10.1038\/sj.bmt.1703114","relation":{},"ISSN":["0268-3369","1476-5365"],"issn-type":[{"value":"0268-3369","type":"print"},{"value":"1476-5365","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,8,1]]},"assertion":[{"value":"23 October 2000","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 March 2001","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 September 2001","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}