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
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.
