Novel Btk Mutation in X-Linked Agammaglobulinemia: Report of a 17-Year-Old Male

Novel Btk Mutation in X-Linked Agammaglobulinemia: Report of a 17-Year-Old Male Publisher Pubmed

Shaka Z¹ ; Mojtabavi H^{2, 3} ; Rayzan E^{3, 4} ; Zoghi S^{5, 6, 7, 8} ; Shahkarami S^{8, 9} ; Raul JH^{5, 6, 7, 11} ; Sedighi I¹² ; Boztug K^{5, 6, 7, 11, 13} ; Rezaei N^{3, 4, 8, 10}

Show Affiliations

1. School of Medicine, Iran University of Medical Sciences, Tehran, Iran
2. School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
3. Systematic Review and Meta-Analysis Expert Group (SRMEG), Universal Scientific Education and Research Network (USERN), Tehran, Iran
4. International Hematology, Oncology of Pediatrics Experts (IHOPE), Universal Scientific Education and Research Network (USERN), Tehran, Iran
5. Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria
6. St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria
7. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria
8. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
9. Department of Pediatrics, Dr. Von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universitat Munchen (LMU), Munich, Germany
10. Medical Genetics Network (Megene), Universal Scientific Education and Research Network (USERN), Tehran, Iran
11. Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
12. Department of Paediatrics, School of Medicine, Hamedan University of Medical Sciences, Hamedan, Iran
13. Department of Paediatrics and Adolescent Medicine, St Anna Children's Hospital, Medical University of Vienna, Vienna, Austria

Source: Allergologia et Immunopathologia Published:2021

Abstract

Introduction and objectives: X-linked agammaglobulinemia (XLA), the first known primary immunodeficiency, is caused by rare mutations in Bruton's tyrosine kinase (BTK) gene. Mutations in the BTK gene lead to a failure in the development and maturation of B-cell linage. A decreased number of B-cells results in agammaglobulinemia and increased susceptibility to a variety of infections. Therefore, patients with XLA usually manifest with repetitive bacterial infections, such as upper respiratory tract infections, septic arthritis, osteomyelitis, and urinary tract infections, since their infancy. Patients: We report a 17-year-old Iranian boy with XLA, referred to us with a history of severe and recurrent episodes of bacterial infections for a period of six years. © 2021. Codon Publications. Published by Codon Publications. All Rights Reserved.

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Style	Citing Format
MLA	Shaka Z, et al.. "Novel Btk Mutation in X-Linked Agammaglobulinemia: Report of a 17-Year-Old Male." Allergologia et Immunopathologia, vol. 49, no. 2, 2021, pp. 80-83.
APA	Shaka Z, Mojtabavi H, Rayzan E, Zoghi S, Shahkarami S, Raul JH, Sedighi I, Boztug K, Rezaei N (2021). Novel Btk Mutation in X-Linked Agammaglobulinemia: Report of a 17-Year-Old Male. Allergologia et Immunopathologia, 49(2), 80-83.
Chicago	Shaka Z, Mojtabavi H, Rayzan E, Zoghi S, Shahkarami S, Raul JH, Sedighi I, Boztug K, Rezaei N. "Novel Btk Mutation in X-Linked Agammaglobulinemia: Report of a 17-Year-Old Male." Allergologia et Immunopathologia 49, no. 2 (2021): 80-83.
Harvard	Shaka Z et al. (2021) 'Novel Btk Mutation in X-Linked Agammaglobulinemia: Report of a 17-Year-Old Male', Allergologia et Immunopathologia, 49(2), pp. 80-83.
Vancouver	Shaka Z, Mojtabavi H, Rayzan E, Zoghi S, Shahkarami S, Raul JH, et al.. Novel Btk Mutation in X-Linked Agammaglobulinemia: Report of a 17-Year-Old Male. Allergologia et Immunopathologia. 2021;49(2):80-83.
BibTex	@article{ author = {Shaka Z and Mojtabavi H and Rayzan E and Zoghi S and Shahkarami S and Raul JH and Sedighi I and Boztug K and Rezaei N}, title = {Novel Btk Mutation in X-Linked Agammaglobulinemia: Report of a 17-Year-Old Male}, journal = {Allergologia et Immunopathologia}, volume = {49}, number = {2}, pages = {80-83}, year = {2021} }
RIS	TY - JOUR AU - Shaka Z AU - Mojtabavi H AU - Rayzan E AU - Zoghi S AU - Shahkarami S AU - Raul JH AU - Sedighi I AU - Boztug K AU - Rezaei N TI - Novel Btk Mutation in X-Linked Agammaglobulinemia: Report of a 17-Year-Old Male JO - Allergologia et Immunopathologia VL - 49 IS - 2 SP - 80 EP - 83 PY - 2021 ER -

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