{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T19:20:42Z","timestamp":1782242442634,"version":"3.54.5"},"reference-count":8,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2008,12,4]],"date-time":"2008-12-04T00:00:00Z","timestamp":1228348800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2009,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A patient with previously unrecognized X\u2010linked chronic granulomatous disease (X\u2010CGD) died of multi\u2010organ failure, secondary to ongoing infection and hemophagocytic lymphohistiocytosis (HLH). Post mortem histological investigations were compatible with X\u2010CGD, and a <jats:italic>CYBB<\/jats:italic> gene mutation was confirmed. No homozygous mutations in the genes encoding perforin (<jats:italic>PRF1<\/jats:italic>), MUNC 13\u20104 or syntaxin\u201011 (<jats:italic>STX11<\/jats:italic>) were found; however, there was a heterozygous alteration c.1471G&gt;A in the <jats:italic>PRF1<\/jats:italic> gene causing a p.Asp491Asn substitution. Although this substitution has not been reported to cause primary or secondary HLH, we speculate that it may have made the patient more susceptible for HLH under the circumstances of ongoing infection associated with X\u2010CGD. Pediatr Blood Cancer 2009;52:527\u2013529. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/pbc.21851","type":"journal-article","created":{"date-parts":[[2008,12,4]],"date-time":"2008-12-04T15:55:12Z","timestamp":1228406112000},"page":"527-529","source":"Crossref","is-referenced-by-count":25,"title":["Fatal hemophagocytic lymphohistiocytosis in X\u2010linked chronic granulomatous disease associated with a perforin gene variant"],"prefix":"10.1002","volume":"52","author":[{"given":"Joris M.","family":"van Montfrans","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Rudd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisette","family":"van de Corput","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan\u2010Inge","family":"Henter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Nikkels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nico","family":"Wulffraat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaap J.","family":"Boelens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,12,4]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1186\/1476-9433-5-4"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-02-0583"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(97)70196-3"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0167-5699(96)30060-1"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.inf.0000137565.23501.03"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-12-4935"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M413303200"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI5084"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.21851","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.21851","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T21:54:57Z","timestamp":1696888497000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.21851"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12,4]]},"references-count":8,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["10.1002\/pbc.21851"],"URL":"https:\/\/doi.org\/10.1002\/pbc.21851","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12,4]]}}}