{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T04:52:48Z","timestamp":1761540768309},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:00:00Z","timestamp":1152576000000},"content-version":"vor","delay-in-days":4666,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[1993,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a 28\u2010year\u2010old\u2010Japanese male who had a skin tumor derived from variant type xeroderma pigmentosum (XP), combined with factor XI (FXI) deficiency and type IIB von Willebrand's disease (vWd). The patient had abnormal bleeding history on tooth extraction. FXI clotting activity (FXI:C) and antigen (FXI:Ag) were remarkably decreased (&lt;0.01 U\/ml, &lt;0.02 U\/ml, respectively). Factor VIII (FVIII) clotting activity, von Wiliebrand factor antigen (vWf :Ag), and ristocetin cofactor (RCoF) were 0.43 U\/ml, 45%, and 57%, respectively. Ristocetin\u2010induced platelet agglutination (RIPA) revealed hyper\u2010aggregation compared with a normal control. Multimeric composition of vWf in plasma showed a reduction in high molecular weight forms. The family study revealed two other subjects with ho\u2010mozygous hereditary FXI deficiency and vWd, and five subjects with heterozygous FXI deficiency. The relationship between FXI deficiency and vWd is discussed and previously reported cases are reviewed. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.2830440211","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T13:13:06Z","timestamp":1172063586000},"page":"129-133","source":"Crossref","is-referenced-by-count":5,"title":["Combined hereditary factor XI (plasma thromboplastin antecedent) deficiency, von Willebrand's disease, and xeroderma pigmentosum in a Japanese family"],"prefix":"10.1002","volume":"44","author":[{"given":"Masayuki","family":"Sano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidehiko","family":"Saito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinori","family":"Shimamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isamu","family":"Sugiura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haruhiko","family":"Ohtsubo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiromu","family":"Kohda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaya","family":"Yamaguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,11]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1182\/blood.V18.2.149.149","article-title":"The mode of inheritance of PTA deficiency: Evidence for the existence of major PTA deficiency and minor PTA deficiency","volume":"18","author":"Rapaport SI","year":"1961","journal-title":"Blood"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1965.tb00114.x"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V65.3.719.719"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V70.4.895.895"},{"key":"e_1_2_1_6_2","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1055\/s-0038-1645682","article-title":"The effect of combined factor XI deficiency with von Willebrand factor abnormalities on haemorrhagic diathesis","volume":"63","author":"Tavori S","year":"1990","journal-title":"Thromb Haemost"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/74.1.108"},{"key":"e_1_2_1_8_2","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1001\/archderm.1987.01660260111026","article-title":"Xerodemia pigmentosum: Cutaneous, ocular and neurologic abnormalities in 830 published cases","volume":"123","author":"Kraemer KH","year":"1987","journal-title":"Arch Dermatol"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0049-3848(84)90334-7"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(66)90246-6"},{"key":"e_1_2_1_11_2","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1182\/blood.V48.2.165.165","article-title":"Factor XI activity and factor XI antigen in homozygous and heterozygous factor XI deficiency","volume":"48","author":"Rimon A","year":"1976","journal-title":"Blood"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1651343"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V57.6.1140.1140"},{"key":"e_1_2_1_14_2","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1182\/blood.V50.3.377.377","article-title":"Plasma thromboplastin antecedent (PTA, factor XI): A specific and sensitive radioimmunoasay","volume":"50","author":"Saito H","year":"1977","journal-title":"Blood"},{"key":"e_1_2_1_15_2","first-page":"718","article-title":"Failure to detect variant (CRM\u2014) plasma thromboplastin antecedent (Factor XI) molecules in hereditary plasma thromboplastin antecedent deficiency: A study of 125 patients of several ethnic backgrounds","volume":"106","author":"Saito H","year":"1985","journal-title":"J Lab Clin Med"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V69.6.1691.1691"},{"key":"e_1_2_1_17_2","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1055\/s-0038-1661543","article-title":"Von Willebrand factor and major blood groups in Japan","volume":"55","author":"Kariya K","year":"1986","journal-title":"Thromb Haemost"},{"key":"e_1_2_1_18_2","doi-asserted-by":"crossref","first-page":"2547","DOI":"10.1182\/blood.V77.12.2547.2547","article-title":"The bleeding time does not predict surgical bleeding","volume":"79","author":"Lind SE","year":"1991","journal-title":"Blood"},{"key":"e_1_2_1_19_2","first-page":"680","article-title":"Vascular anomaly associated with plasma thromboplastin antecedent deficiency","volume":"54","author":"Frick PG","year":"1959","journal-title":"J Lab Clin Med"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-197501000-00003"},{"key":"e_1_2_1_21_2","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1182\/blood.V16.2.1184.1184","article-title":"Combined deficiencies of PTA and AHG with vascular fragility","volume":"16","author":"Perry S","year":"1960","journal-title":"Blood"},{"key":"e_1_2_1_22_2","first-page":"132","article-title":"Low ratios of factor VIII clotting activity to factor VIII related antigen in a family with combined deficiencies of factors VIII and XI. (Abstract)","volume":"30","author":"Attock B","year":"1975","journal-title":"Br J Haematol"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.2830440211","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.2830440211","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T17:36:15Z","timestamp":1698255375000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.2830440211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,10]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1993,10]]}},"alternative-id":["10.1002\/ajh.2830440211"],"URL":"https:\/\/doi.org\/10.1002\/ajh.2830440211","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,10]]}}}