Asthma and allergic rhinitis in a patient with BTK deficiency.
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.
Shabestari
M Sadeghi
MS
Division of Pediatric Immunology and Allergy, Children's Hospital, Tabriz University of Medical Sciences, Tabriz, Iran. drsadeghim2004@yahoo.com
Rezaei
N
N
D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000150:complications* / Q000276:immunology; D001249:Asthma / Q000150:complications* / Q000276:immunology / Q000378:metabolism; D002648:Child; D005260:Female; D006801:Humans; D007239:Infections / Q000150:complications / Q000276:immunology; D008297:Male; D009000:Monocytes / Q000201:enzymology; D010375:Pedigree; D011505:Protein-Tyrosine Kinases / Q000097:blood / Q000172:deficiency*; D012221:Rhinitis, Allergic, Perennial / Q000150:complications* / Q000276:immunology
D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human