Background:
The prevalence of
primary
immunodeficiency (PID)
in the relatives of
patients with common
variable
immunodeficiency (CVID)
and IgA deficiency
is high. Allergic
disorders have been
recorded in patients
with humoral
immunodeficiency. We
aimed to determine
the frequency of
humoral
immunodeficiency and
atopy in the
relatives of
patients with CVID.
Methods: The
study population
comprised 20 CVID
patients and their
relatives. All
relatives were
screened using a
questionnaire
covering demographic
characteristics,
warning signs of PID
(adults and
children), and core
questions on asthma,
rhinitis, and eczema
from the
International Study
of Asthma and
Allergies in
Childhood (ISAAC).
We also recorded
absolute neutrophil
and lymphocyte
counts, serum
immunoglobulin
levels, pulmonary
function values, and
skin prick test
results.
Results:
The study sample
comprised 20
patients with CVID
(15 males, 5
females; mean [SD]
age, 16.4 [9] years)
and 63 first-degree
relatives (18
mothers, 16 fathers,
16 sisters, 10
brothers, and 3
offspring). The rate
of parental
consanguinity was
75%. Of 17 family
members with
positive PID warning
signs, 6 had
concomitant
hypogammaglobulinemia
(3 low IgM levels, 2
selective IgA
deficiency, and 1
partial IgA
deficiency). The
ISAAC questionnaire
revealed allergic
rhinitis in 3
mothers, asthma in 2
fathers, and 1
sibling. Skin prick
testing revealed
sensitization to
aeroallergens in
31.6% of cases in
addition to 1 parent
and 1 sibling.
Conclusions:
Almost half of the
20 families with a
CVID patient had at
least 1 additional
member with
hypogammaglobulinemia,
leading us to
recommend routine
screening for
relatives of CVID
patients.
Key words:
Allergy. Common
variable
immunodeficiency (CVID).
Consanguinity.
Family screening.
Immunoglobulin A (IgA)
deficiency.
Hypogammaglobulinemia. |