Dedicator of cytokinesis 8 (DOCK8) deficiency.

作者: Helen C Su

DOI: 10.1097/ACI.0B013E32833FD718

关键词:

摘要: Purpose of the review The purpose this review is to describe a new combined primary immunodeficiency disease, previously known as autosomal recessive hyper-IgE syndrome, whose molecular basis was discovered in 2009.

参考文章(37)
Terukazu Sanui, Ayumi Inayoshi, Mayuko Noda, Eiko Iwata, Masahiro Oike, Takehiko Sasazuki, Yoshinori Fukui, DOCK2 Is Essential for Antigen-Induced Translocation of TCR and Lipid Rafts, but Not PKC-θ and LFA-1, in T Cells Immunity. ,vol. 19, pp. 119- 129 ,(2003) , 10.1016/S1074-7613(03)00169-9
Jun-Yi Lei, Yang Wang, Elaine S. Jaffe, Maria L. Turner, Mark Raffeld, Lynn Sorbara, John Morris, Steven M. Holland, Paul H. Duray, Microcystic adnexal carcinoma associated with primary immunodeficiency, recurrent diffuse herpes simplex virus infection, and cutaneous T-cell lymphoma. American Journal of Dermatopathology. ,vol. 22, pp. 524- 529 ,(2000) , 10.1097/00000372-200012000-00008
Cristina Woellner, E Michael Gertz, Alejandro A Schäffer, Macarena Lagos, Mario Perro, Erik-Oliver Glocker, Maria C Pietrogrande, Fausto Cossu, José L Franco, Nuria Matamoros, Barbara Pietrucha, Edyta Heropolitańska-Pliszka, Mehdi Yeganeh, Mostafa Moin, Teresa Español, Stephan Ehl, Andrew R Gennery, Mario Abinun, Anna Bręborowicz, Tim Niehues, Sara Sebnem Kilic, Anne Junker, Stuart E Turvey, Alessandro Plebani, Berta Sánchez, Ben-Zion Garty, Claudio Pignata, Caterina Cancrini, Jiri Litzman, Özden Sanal, Ulrich Baumann, Rosa Bacchetta, Amy P Hsu, Joie N Davis, Lennart Hammarström, E Graham Davies, Efrem Eren, Peter D Arkwright, Jukka S Moilanen, Dorothee Viemann, Sujoy Khan, László Maródi, Andrew J Cant, Alexandra F Freeman, Jennifer M Puck, Steven M Holland, Bodo Grimbacher, None, Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome Journal of Allergy and Clinical Immunology. ,vol. 125, pp. 424- 432.e8 ,(2010) , 10.1016/J.JACI.2009.10.059
Yoshiyuki Minegishi, Hyper-IgE syndrome. Current Opinion in Immunology. ,vol. 21, pp. 487- 492 ,(2009) , 10.1016/J.COI.2009.07.013
Yoshinori Fukui, Osamu Hashimoto, Terukazu Sanui, Takamasa Oono, Hironori Koga, Masaaki Abe, Ayumi Inayoshi, Mayuko Noda, Masahiro Oike, Toshikazu Shirai, Takehiko Sasazuki, Haematopoietic cell-specific CDM family protein DOCK2 is essential for lymphocyte migration Nature. ,vol. 412, pp. 826- 831 ,(2001) , 10.1038/35090591
A. Nishikimi, H. Fukuhara, W. Su, T. Hongu, S. Takasuga, H. Mihara, Q. Cao, F. Sanematsu, M. Kanai, H. Hasegawa, Y. Tanaka, M. Shibasaki, Y. Kanaho, T. Sasaki, M. A. Frohman, Y. Fukui, Sequential regulation of DOCK2 dynamics by two phospholipids during neutrophil chemotaxis. Science. ,vol. 324, pp. 384- 387 ,(2009) , 10.1126/SCIENCE.1170179
Nahum Meller, Sylvain Merlot, Chittibabu Guda, CZH proteins: a new family of Rho-GEFs. Journal of Cell Science. ,vol. 118, pp. 4937- 4946 ,(2005) , 10.1242/JCS.02671
Katrina L Randall, Teresa Lambe, Andy L Johnson, Bebhinn Treanor, Edyta Kucharska, Heather Domaschenz, Belinda Whittle, Lina E Tze, Anselm Enders, Tanya L Crockford, Tiphaine Bouriez-Jones, Duncan Alston, Jason G Cyster, Michael J Lenardo, Fabienne Mackay, Elissa K Deenick, Stuart G Tangye, Tyani D Chan, Tahra Camidge, Robert Brink, Carola G Vinuesa, Facundo D Batista, Richard J Cornall, Christopher C Goodnow, Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production. Nature Immunology. ,vol. 10, pp. 1283- 1291 ,(2009) , 10.1038/NI.1820
Kenji Takahashi, Takashi Kohno, Rieko Ajima, Hiroki Sasaki, John Minna, Toshiyoshi Fujiwara, Noriaki Tanaka, Jun Yokota, Homozygous deletion and reduced expression of the DOCK8 gene in human lung cancer International Journal of Oncology. ,vol. 28, pp. 321- 328 ,(2006) , 10.3892/IJO.28.2.321