Literature DB >> 20015872

A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly.

Meina Zhao, Hirokazu Kanegane, Kazutaka Ouchi, Toshihiko Imamura, Sylvain Latour, Toshio Miyawaki.   

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Year:  2009        PMID： 20015872      PMCID： PMC2857205          DOI： 10.3324/haematol.2009.018010

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  7 in total

1.  Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members.

Authors:  Yasuhiro Tabata; Joyce Villanueva; Susan Molleran Lee; Kejian Zhang; Hirokazu Kanegane; Toshio Miyawaki; Janos Sumegi; Alexandra H Filipovich
Journal:  Blood       Date:  2005-01-04       Impact factor: 22.113

2.  XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.

Authors:  Stéphanie Rigaud; Marie-Claude Fondanèche; Nathalie Lambert; Benoit Pasquier; Véronique Mateo; Pauline Soulas; Lionel Galicier; Françoise Le Deist; Frédéric Rieux-Laucat; Patrick Revy; Alain Fischer; Geneviève de Saint Basile; Sylvain Latour
Journal:  Nature       Date:  2006-11-02       Impact factor: 49.962

3.  A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency.

Authors:  Rebecca A Marsh; Joyce Villanueva; Kejian Zhang; Andrew L Snow; Helen C Su; Lisa Madden; Rajen Mody; Brenda Kitchen; Dan Marmer; Michael B Jordan; Kimberly A Risma; Alexandra H Filipovich; Jack J Bleesing
Journal:  Cytometry B Clin Cytom       Date:  2009-09       Impact factor: 3.058

4.  Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection.

Authors:  Kentaro Shinozaki; Hirokazu Kanegane; Hiroyoshi Matsukura; Ryo Sumazaki; Masahiro Tsuchida; Mika Makita; Yasuo Kimoto; Rie Kanai; Kumi Tsumura; Tatsuro Kondoh; Hiroyuki Moriuchi; Toshio Miyawaki
Journal:  Int Immunol       Date:  2002-10       Impact factor: 4.823

5.  Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome.

Authors:  K E Nichols; D P Harkin; S Levitz; M Krainer; K A Kolquist; C Genovese; A Bernard; M Ferguson; L Zuo; E Snyder; A J Buckler; C Wise; J Ashley; M Lovett; M B Valentine; A T Look; W Gerald; D E Housman; D A Haber
Journal:  Proc Natl Acad Sci U S A       Date:  1998-11-10       Impact factor: 11.205

6.  The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM.

Authors:  J Sayos; C Wu; M Morra; N Wang; X Zhang; D Allen; S van Schaik; L Notarangelo; R Geha; M G Roncarolo; H Oettgen; J E De Vries; G Aversa; C Terhorst
Journal:  Nature       Date:  1998-10-01       Impact factor: 49.962

7.  Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.

Authors:  A J Coffey; R A Brooksbank; O Brandau; T Oohashi; G R Howell; J M Bye; A P Cahn; J Durham; P Heath; P Wray; R Pavitt; J Wilkinson; M Leversha; E Huckle; C J Shaw-Smith; A Dunham; S Rhodes; V Schuster; G Porta; L Yin; P Serafini; B Sylla; M Zollo; B Franco; A Bolino; M Seri; A Lanyi; J R Davis; D Webster; A Harris; G Lenoir; G de St Basile; A Jones; B H Behloradsky; H Achatz; J Murken; R Fassler; J Sumegi; G Romeo; M Vaudin; M T Ross; A Meindl; D R Bentley
Journal:  Nat Genet       Date:  1998-10       Impact factor: 38.330
  7 in total
  9 in total

1.  XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease.

Authors:  Rebecca A Marsh; Lisa Madden; Brenda J Kitchen; Rajen Mody; Brad McClimon; Michael B Jordan; Jack J Bleesing; Kejian Zhang; Alexandra H Filipovich
Journal:  Blood       Date:  2010-05-20       Impact factor: 22.113

2.  Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency.

Authors:  Rebecca A Marsh; Jack J Bleesing; Alexandra H Filipovich
Journal:  J Immunol Methods       Date:  2010-09-09       Impact factor: 2.303

3.  Clinical and genetic characteristics of XIAP deficiency in Japan.

Authors:  Xi Yang; Hirokazu Kanegane; Naonori Nishida; Toshihiko Imamura; Kazuko Hamamoto; Ritsuko Miyashita; Kohsuke Imai; Shigeaki Nonoyama; Kazunori Sanayama; Akiko Yamaide; Fumiyo Kato; Kozo Nagai; Eiichi Ishii; Menno C van Zelm; Sylvain Latour; Xiao-Dong Zhao; Toshio Miyawaki
Journal:  J Clin Immunol       Date:  2012-01-08       Impact factor: 8.317

Review 4.  X-linked lymphoproliferative syndromes: brothers or distant cousins?

Authors:  Alexandra H Filipovich; Kejian Zhang; Andrew L Snow; Rebecca A Marsh
Journal:  Blood       Date:  2010-07-26       Impact factor: 22.113

5.  XIAP Knockdown in Alcohol-Associated Liver Disease Models Exhibits Divergent in vitro and in vivo Phenotypes Owing to a Potential Zonal Inhibitory Role of SMAC.

Authors:  Li He; Tejasav S Sehrawat; Vikas K Verma; Amaia Navarro-Corcuera; Guneet Sidhu; Amy Mauer; Xin Luo; Tomohiro Katsumi; Jingbiao Chen; Soni Shah; Juan Pablo Arab; Sheng Cao; Hamid Kashkar; Gregory J Gores; Harmeet Malhi; Vijay H Shah
Journal:  Front Physiol       Date:  2021-05-07       Impact factor: 4.755

6.  Eosinophilic colitis in a boy with a novel XIAP mutation: a case report.

Authors:  Jiamei Tang; Xiaoying Zhou; Lan Wang; Guorui Hu; Bixia Zheng; Chunli Wang; Yan Lu; Yu Jin; Hongmei Guo; Zhifeng Liu
Journal:  BMC Pediatr       Date:  2020-04-18       Impact factor: 2.125

Review 7.  Evolution of Our Understanding of XIAP Deficiency.

Authors:  Anne C A Mudde; Claire Booth; Rebecca A Marsh
Journal:  Front Pediatr       Date:  2021-06-17       Impact factor: 3.418

8.  Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling.

Authors:  Rune Busk Damgaard; Berthe Katrine Fiil; Carsten Speckmann; Monica Yabal; Udo zur Stadt; Simon Bekker-Jensen; Philipp J Jost; Stephan Ehl; Niels Mailand; Mads Gyrd-Hansen
Journal:  EMBO Mol Med       Date:  2013-07-01       Impact factor: 12.137

9.  Successful allogeneic hematopoietic stem cell transplantation in a boy with X-linked inhibitor of apoptosis deficiency presenting with hemophagocytic lymphohistiocytosis: A case report.

Authors:  Ming-Yan Jiang; Xia Guo; Shu-Wen Sun; Qiang Li; Yi-Ping Zhu
Journal:  Exp Ther Med       Date:  2016-07-04       Impact factor: 2.447
  9 in total

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