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

Väliaho J, Smith CI, Vihinen M. BTKbase: the mutation database for X-linked agammaglobulinemia. Hum Mutat. 2006;27(12):1209–17.

Article  PubMed  Google Scholar 

Weber ANR, Bittner Z, Liu X, Dang TM, Radsak MP, Brunner C. Bruton’s tyrosine kinase: an emerging key player in innate immunity. Front Immunol. 2017;8:1454.

Article  PubMed  PubMed Central  Google Scholar 

Uckun FM. Regulation of human B cell ontogeny. Blood. 1990;76(10):1908–23.

Article  CAS  PubMed  Google Scholar 

Nomura K, Kanegane H, Karasuyama H, Tsukada S, Agematsu K, Murakami G, et al. Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B cell differentiation pathway. Blood. 2000;96(2):610–7.

CAS  PubMed  Google Scholar 

Conley ME, Dobbs AK, Farmer DM, Kilic S, Paris K, Grigoriadou S, et al. Primary B cell immunodeficiencies: comparisons and contrasts. Annu Rev Immunol. 2009;27:199–227.

Article  CAS  PubMed  Google Scholar 

Baraldi E, Djinovic Carugo K, Hyvönen M, Surdo PL, Riley AM, Potter BV, et al. Structure of the PH domain from Bruton’s tyrosine kinase in complex with inositol 1,3,4,5-tetrakisphosphate. Structure. 1999;7(4):449–60.

Article  CAS  PubMed  Google Scholar 

Qin X, Jiang LP, Tang XM, Wang M, Liu EM, Zhao XD. Clinical features and mutation analysis of X-linked agammaglobulinemia in 20 Chinese patients. World J Pediatr. 2013;9(3):273–7.

Article  PubMed  Google Scholar 

Wang Y, Kanegane H, Wang X, Han X, Zhang Q, Zhao S, et al. Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China. J Clin Immunol. 2009;29(3):352–6.

Article  PubMed  Google Scholar 

Futatani T, Watanabe C, Baba Y, Tsukada S, Ochs HD. Bruton’s tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females. Br J Haematol. 2001;114(1):141–9.

Article  CAS  PubMed  Google Scholar 

Holinski-Feder E, Weiss M, Brandau O, Jedele KB, Nore B, Bäckesjö CM, et al. Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. Pediatrics. 1998;101(2):276–84.

Article  CAS  PubMed  Google Scholar 

Lee KG, Xu S, Kang ZH, Huo J, Huang M, Liu D, et al. Bruton’s tyrosine kinase phosphorylates Toll-like receptor 3 to initiate antiviral response. Proc Natl Acad Sci USA. 2012;109(15):5791–6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Horwood NJ, Mahon T, McDaid JP, Campbell J, Mano H, Brennan FM, et al. Bruton’s tyrosine kinase is required for lipopolysaccharide-induced tumor necrosis factor alpha production. J Exp Med. 2003;197(12):1603–11.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bao Y, Zheng J, Han C, Jin J, Han H, Liu Y, et al. Tyrosine kinase Btk is required for NK cell activation. J Biol Chem. 2012;287(28):23769–78.

Article  CAS  PubMed  PubMed Central  Google Scholar 

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