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Case Report


Asthma and Allergic Rhinitis in a Patient with BTK Deficiency


M Sadeghi Shabestari,1 N Rezaei2

1 Division of Pediatric Immunology and Allergy, Children’s Hospital, Tabriz University of Medical Sciences, Tabriz, Iran
2 Immunology, Asthma, and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran

J Investig Allergol Clin Immunol 2008; Vol. 18(4): 300-304



BTK deficiency is a primary immunodeficiency disease characterized by the absence of circulating B cells and agammaglobulinemia. While recurrent bacterial infections are the most common manifestations, symptoms of allergy and asthma are rare.
We present the case of a 7-year-old boy who presented with asthma symptoms, allergic rhinitis, and severe papular urticaria. He had a positive skin prick test to aeroallergens and food allergens. However, further laboratory tests revealed a low number of B cells and decreased serum levels of all immunoglobulin isotypes. Molecular analysis revealed a mutation in the BTK gene.
Although patients with BTK deficiency seem to be protected from atopy, our patient had allergic symptoms suggesting a bias toward a type 2 helper T cell pattern in this case. Primary antibody deficiency should be considered in the differential diagnosis of pediatric allergy and asthma when respiratory infection persists despite appropriate treatment.

Key words: Allergy. Asthma. BTK. X-linked agammaglobulinemia.