{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:51:28Z","timestamp":1788871888671,"version":"build-2803163510"},"reference-count":50,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,12,1]],"date-time":"2009-12-01T00:00:00Z","timestamp":1259625600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Swedish Children's Cancer Foundation"},{"DOI":"10.13039\/501100004359","name":"Swedish Research Council","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Cancer and Allergy Foundation of Sweden"},{"DOI":"10.13039\/100012538","name":"Swedish Cancer Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012538","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Histiocytosis Association of America"},{"name":"Mary B\u00e9ve Foundation"},{"name":"M\u00e4rta and Gunnar V. Philipson Foundation"},{"name":"David and Astrid Hagel\u00e9ns Foundation"},{"DOI":"10.13039\/501100004348","name":"Stockholm County Council","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004348","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Griscelli syndrome type 2 (GS2) is an autosomal\u2010recessive immunodeficiency caused by mutations in\n                      <jats:italic>RAB27A<\/jats:italic>\n                      , clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of\n                      <jats:italic>RAB27A<\/jats:italic>\n                      mutations in 21 unrelated patients with haemophagocytic syndromes without mutations in familial HLH (FHL) causing genes or an established diagnosis of GS2. In addition, we report three patients with known GS2. Moreover, neurological involvement and\n                      <jats:italic>RAB27A<\/jats:italic>\n                      mutations in previously published patients with genetically verified GS2 are reviewed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Procedure<\/jats:title>\n                    <jats:p>\n                      Mutation analysis of\n                      <jats:italic>RAB27A<\/jats:italic>\n                      was performed by direct DNA sequencing. NK cell activity was evaluated and microscopy of the hair was performed to confirm the diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      <jats:italic>RAB27A<\/jats:italic>\n                      mutations were found in 1 of the 21 families. This Swedish family had three affected children with heterozygous compound mutations consisting of a novel splice error mutation, [c.239G&gt;C], and a nonsense mutation, [c.550C&gt;T], p.R184X. The three additional children all carried homozygous\n                      <jats:italic>RAB27A<\/jats:italic>\n                      mutations, one of which is a novel splice error mutation, [c.240\u20102A&gt;C]. Of note, five of the six patients displayed neurological symptoms, while three out of six patients displayed NK cell activity within normal reference values, albeit low. A literature review revealed that 67% of GS2 patients have been reported with neurological manifestations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Identification of\n                      <jats:italic>RAB27A<\/jats:italic>\n                      mutations can facilitate prompt diagnosis and treatment, and aid genetic counselling and prenatal diagnosis. Since five of six patients studied herein initially were diagnosed as having FHL, we conclude that the diagnosis of GS2 may be overlooked, particularly in fair\u2010haired patients with haemophagocytic syndromes. Pediatr Blood Cancer 2010;54:563\u2013572. \u00a9 2009 Wiley\u2010Liss, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pbc.22357","type":"journal-article","created":{"date-parts":[[2009,12,1]],"date-time":"2009-12-01T13:49:32Z","timestamp":1259675372000},"page":"563-572","source":"Crossref","is-referenced-by-count":86,"title":["Clinical presentation of Griscelli syndrome type 2 and spectrum of\n                    <i>RAB27A<\/i>\n                    mutations"],"prefix":"10.1002","volume":"54","author":[{"given":"Marie","family":"Meeths","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yenan 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