Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings

被引:0
作者
Sharif-Askari, Narjes Saheb [1 ,2 ]
Hafezi, Shirin [1 ]
Sharif-Askari, Fatemeh Saheb [1 ,3 ]
Frommenwiler, Naomi [4 ]
Halwani, Rabih [1 ,2 ,5 ]
机构
[1] Univ Sharjah, Res Inst Med & Hlth Sci, Sharjah, U Arab Emirates
[2] Univ Sharjah, Coll Med, Dept Clin Sci, Sharjah, U Arab Emirates
[3] Univ Sharjah, Coll Pharm, Dept Pharm Practice & Pharmacotherapeut, Sharjah, U Arab Emirates
[4] Swiss Fed Inst Technol, Dept Hlth Sci & Technol, CH-8092 Zurich, Switzerland
[5] King Saud Univ, Fac Med, Prince Abdullah Bin Khaled Celiac Dis Res Chair, Dept Pediat, Riyadh, Saudi Arabia
关键词
BRUTONS TYROSINE KINASE; MUTATION;
D O I
10.1007/s10875-023-01534-3
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
引用
收藏
页码:1533 / 1536
页数:4
相关论文
共 13 条
[1]   Tyrosine Kinase Btk Is Required for NK Cell Activation [J].
Bao, Yan ;
Zheng, Jian ;
Han, Chaofeng ;
Jin, Jing ;
Han, Huanxing ;
Liu, Yinping ;
Lau, Yu-Lung ;
Tu, Wenwei ;
Cao, Xuetao .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2012, 287 (28) :23769-23778
[2]   Structure of the PH domain from Bruton's tyrosine kinase in complex with inositol 1,3,4,5-tetrakisphosphate [J].
Baraldi, E ;
Carugo, KD ;
Hyvönen, M ;
Lo Surdo, P ;
Riley, AM ;
Potter, BVL ;
O'Brien, R ;
Ladbury, JE ;
Saraste, M .
STRUCTURE, 1999, 7 (04) :449-460
[3]   Primary B Cell Immunodeficiencies: Comparisons and Contrasts [J].
Conley, Mary Ellen ;
Dobbs, A. Kerry ;
Farmer, Dana M. ;
Kilic, Sebnem ;
Paris, Kenneth ;
Grigoriadou, Sofia ;
Coustan-Smith, Elaine ;
Howard, Vanessa ;
Campana, Dario .
ANNUAL REVIEW OF IMMUNOLOGY, 2009, 27 :199-227
[4]   Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females [J].
Futatani, T ;
Watanabe, C ;
Baba, Y ;
Tsukada, S ;
Ochs, HD .
BRITISH JOURNAL OF HAEMATOLOGY, 2001, 114 (01) :141-149
[5]   Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA):: 47 unique mutations without correlation to clinical course [J].
Holinski-Feder, E ;
Weiss, M ;
Brandau, O ;
Jedele, KB ;
Nore, B ;
Bäckesjö, CM ;
Vihinen, M ;
Hubbard, SR ;
Belohradsky, BH ;
Smith, CIE ;
Meindl, A .
PEDIATRICS, 1998, 101 (02) :276-284
[6]   Bruton's tyrosine kinase is required for lipopolysaccharide-induced tumor necrosis factor at production [J].
Horwood, NJ ;
Mahon, T ;
McDaid, JP ;
Campbell, J ;
Mano, H ;
Brennan, FM ;
Webster, D ;
Foxwell, BMJ .
JOURNAL OF EXPERIMENTAL MEDICINE, 2003, 197 (12) :1603-1611
[7]   Bruton's tyrosine kinase phosphorylates Toll-like receptor 3 to initiate antiviral response [J].
Lee, Koon-Guan ;
Xu, Shengli ;
Kang, Zi-Han ;
Huo, Jianxin ;
Huang, Mei ;
Liu, Dingxiang ;
Takeuchi, Osamu ;
Akira, Shizuo ;
Lam, Kong-Peng .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2012, 109 (15) :5791-5796
[8]  
Nomura K, 2000, BLOOD, V96, P610
[9]   Clinical features and mutation analysis of X-linked agammaglobulinemia in 20 Chinese patients [J].
Qin, Xian ;
Jiang, Li-Ping ;
Tang, Xue-Mei ;
Wang, Mo ;
Liu, En-Mei ;
Zhao, Xiao-Dong .
WORLD JOURNAL OF PEDIATRICS, 2013, 9 (03) :273-277
[10]  
UCKUN FM, 1990, BLOOD, V76, P1908