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}
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.