Data Availability
All data generated or analyzed during this study are included in this article.
References
Väliaho J, Smith CI, Vihinen M. BTKbase: the mutation database for X-linked agammaglobulinemia. Hum Mutat. 2006;27(12):1209–17.
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.
Uckun FM. Regulation of human B cell ontogeny. Blood. 1990;76(10):1908–23.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Funding
The authors extend their appreciation to the Deanship of Scientific Research, king Saud University for funding through Vice Deanship of Scientific Research Chairs; Research Chair of Prince Abdullah Ben Khalid Celiac Disease research chair; Riyadh, Kingdom of Saudi Arabia.
Author information
Authors and Affiliations
Contributions
Rabih Halwani, Narjes Saheb Sharif-Askari, and Fatemeh Saheb Sharif-Askari conceived and designed the experiments. Narjes Saheb Sharif-Askari performed sample and data collection. Narjes Saheb Sharif-Askari, Fatemeh Saheb Sharif-Askari, Shirin Hafezi, and Naomi Frommenwiler performed the experiments. Rabih Halwani, Narjes Saheb Sharif-Askari, and Fatemeh Saheb Sharif-Askari analyzed and interpreted the data. All authors contributed to the writing and revision of the manuscript.
Corresponding author
Ethics declarations
Ethical Approval
Approval was obtained from the ethics committee of the University of Sharjah. The procedures used in this study adhere to the principles of the Declaration of Helsinki.
Consent to Participate
Informed consent was obtained from all individual participants or their parents included in the study.
Consent for Publication
This is not applicable.
Conflict of Interest
The authors declare no competing interests.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Supplementary Information
Below is the link to the electronic supplementary material.
Rights and permissions
About this article
Cite this article
Saheb Sharif-Askari, N., Hafezi, S., Saheb Sharif-Askari, F. et al. Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings. J Clin Immunol 43, 1533–1536 (2023). https://doi.org/10.1007/s10875-023-01534-3
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10875-023-01534-3