Asthma and allergic rhinitis in a patient with BTK deficiency

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

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Agammaglobulinaemia Tyrosine Kinase
  • Agammaglobulinemia / complications*
  • Agammaglobulinemia / immunology
  • Asthma / complications*
  • Asthma / immunology
  • Asthma / metabolism
  • Child
  • Female
  • Humans
  • Infections / complications
  • Infections / immunology
  • Male
  • Monocytes / enzymology
  • Pedigree
  • Protein-Tyrosine Kinases / blood
  • Protein-Tyrosine Kinases / deficiency*
  • Rhinitis, Allergic, Perennial / complications*
  • Rhinitis, Allergic, Perennial / immunology

Substances

  • Protein-Tyrosine Kinases
  • Agammaglobulinaemia Tyrosine Kinase
  • BTK protein, human