Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male

• Zoha Shaka ^[1] ; Helia Mojtabavi ^[2] ; Elham Rayzan ^[4] ; Samaneh Zoghi ^[2] ; Sepideh Shahkarami ^[2] ; Jimenez Heredia Raul ^[5] ; Iraj Sedighi ^[3] ; Kaan Boztug ^[6] ; Nima Rezaei ^[2]
  1. [1] Iran University of Medical Sciences

     Iran University of Medical Sciences

     Irán

     
  2. [2] Tehran University of Medical Sciences

     Tehran University of Medical Sciences

     Irán

     
  3. [3] Hamedan University of Medical Sciences

     Hamedan University of Medical Sciences

     Irán

     
  4. [4] Systematic Review and Meta-Analysis Expert Group (SRMEG), Universal Scientific Education and Research Network (USERN), Tehran, Iran; International Hematology/Oncology of Pediatrics Experts (IHOPE), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
  5. [5] Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; St. Anna Children’s Cancer Research Institute (CCRI), Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  6. [6] Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; St. Anna Children’s Cancer Research Institute (CCRI), Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; Department of Paediatrics and Adolescent Medicine, St Anna Children’s Hospital, Medical University of Vienna, Vienna, Austria.

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• Localización: Allergologia et immunopathologia: International journal for clinical and investigate allergology and clinical immunology, ISSN-e 1578-1267, ISSN 0301-0546, Vol. 49, Nº. 2, 2021, págs. 80-83
• Idioma: inglés
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  • 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.

    Results: Genetic analysis using the whole Exome sequencing revealed a hemizygous missense mutation in the BTK gene (c.428 A > T, p.His143Leu).

    Conclusion: To our knowledge, c.428 A > T has not been reported in the BTK gene.