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  • 1 Babol University of Medical Sciences Non-Communicable Pediatric Diseases Research Center Babol Iran
  • | 2 University of Sherbrooke, Centre de Recherche Clinique Etienne Le-Bel, Centre Hopitalier Universitaire de Sherbrooke Division of Immunology, Department of Pediatrics, Faculty of Medicine Sherbrooke QC J1H 5N4 Canada
  • | 3 Tehran University of Medical Sciences Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center Tehran Iran
  • | 4 Tehran University of Medical Sciences Molecular Immunology Research Center, and Department of Immunology, School of Medicine Tehran Iran
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X-linked agammaglobulinemia (XLA), also known as Bruton’s tyrosine kinase (BTK) deficiency, is a primary antibody deficiency, characterized by low number of B cells, agammaglobulinemia and increased susceptibility to a variety of infections. Herein, we report a case of XLA with confirmed BTK mutation that developed neurological deficits. While we could not detect any responsible microorganism in spite of comprehensive workup, brain magnetic resonance imaging revealed moderate brain atrophy. The diagnosis of progressive encephalitis was made for this patient. Patients with XLA have a higher chance of encephalitis compared with other primary antibody deficiencies. Given the violent nature of encephalitis, it is a concern among XLA patients.

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