This study assessed the frequency of primary immunodeficiency diseases in 59 adult patients with non-cystic fibrosis bronchiectasis. The mean age of patients was 50.4 years, and mean age at bronchiectasis diagnosis was 38.9 years. Primary immunodeficiencies were diagnosed in 6 patients (10.2%): 2 with previously diagnosed conditions and 4 with new diagnoses, including 3 with IgA deficiency. An additional 5 patients (8.5%) had borderline levels of anti-pneumococcal antibodies and require further investigation. Mild immunological defects were most common, but some patients had more severe deficiencies requiring specific treatment.

1. 59
pa&ents
were
studied
10
(16.9%)
males
Mean
age
at
the
&me
of
the
study
50.4
±
14.5
years
Mean
age
at
bronchiectasis
diagnosis
of
38.9
±
17.1
years
Natacha
Santos1,
Ana
Leblanc1,
Teresa
Vieira1,
Adelina
Amorim2,
José
Torres-­‐Costa1
1Serviço
de
Imunoalergologia,
Centro
Hospitalar
São
João,
E.P.E.,
Porto,
Portugal
2Serviço
de
Pneumologia,
Centro
Hospitalar
São
João,
E.P.E.,
Porto,
Portugal
Primary
immunodeficiency
diseases
(PID)
are
usually
diagnosed
during
childhood,
but
might
only
be
suspected
in
adulthood
because
of
complica&ons
as
bronchiectasis.
Aim:
To
assess
the
frequency
of
primary
immunodeficiency
diseases
among
adult
pa&ents
with
non-­‐cys&c
fibrosis
bronchiectasis.
Pa&ents
with
computerized
tomography
confirmed
non-­‐cys&c
fibrosis
bronchiectasis
followed
in
a
specialized
pulmonology
prac&ce
were
inves&gated
with:
-­‐ Serum
immunoglobulins
(Ig)
and
IgG
subclasses
-­‐ Specific
an&body
responses
to
tetanus
toxoid
(total
IgG
and
IgG1)
and
pneumococcal
capsular
polysaccharide
(total
IgG
and
IgG2
an&-­‐PCP)
Subsequently,
the
opinion
of
an
immunoallergologist
was
sought
if
further
specific
immunological
inves&ga&ons
were
required.
ü Primary
immunodeficiencies
are
frequently
diagnosed
in
adult
pa&ents
with
non-­‐cys&c
fibrosis
bronchiectasis
ü Although
mild
immunological
defects
were
the
most
frequent,
other
more
severe
immunodeficiency
diseases
needing
specific
treatment
were
also
present
ü Pa&ents
with
borderline
an&-­‐PCP
specific
an&bodies
need
further
tes&ng
as
low
normal
results
do
not
predict
response
to
vaccina&on.
Possibly
serotype-­‐specific
an&bodies
could
be
a
useful
addi&onal
tool
in
evalua&ng
these
pa&ents.
Two
with
a
previously
diagnosed
immunodeficiency
• 1
♀
aged
34
years
and
AID
deficiency
(hiper-­‐IgM
syndrome),
under
IV
immunoglobulin
G
replacement
• 1
♂
aged
29
years
with
decreased
IgA
and
IgG2,
elevated
IgM,
absence
of
specific
an&bodies
response
and
decreased
memory
B
cells,
under
evalua&on
Four
with
newly
diagnosed
immunodeficiency
• 3
pa&ents
with
IgA
deficiency
(≤0.06g/L)
• 1
♀
aged
73
years
with
decreased
IgM
(0.21g/L),
progressive
decrease
in
IgG
(5.37g/L)
and
absence
of
response
to
pneumococcal
vaccina&on*
(immunosenescence?)
An
immunodeficiency
was
present
in
6
(10.2%)
pa<ents:
An
addi<onal
number
of
5
(8.5%)
pa<ents
had
“borderline
levels”
of
an<-­‐PCP
specific
an<bodies.
These
pa&ents
had
unknow
pneumococcal
vaccina&on/infec&on
status
and
are
under
further
inves&ga&on.
IgG2
an&-­‐PCP
IgG
an&-­‐PCP
Mean=13.4
SD=7.65
Mean=5.0
SD=3.01
1.54§
5.57‡
0.54§
1.75‡
Table
1.
Pa&ents
with
IgG2
an&-­‐PCP
below
1.75
(p15)
and
normal
IgG
an&-­‐PCP
levels
were
arbitrarily
considered
as
“borderline”.
n.p.:
not
performed.
✧Age
at
IgG
an&-­‐PCP
evalua&on
Age✧
(years)
Before
Aker
An&-­‐pneumococcal
vaccina&on
IgG
an&-­‐PCP
IgG2
an&-­‐PCP
IgG
an&-­‐PCP
IgG2
an&-­‐PCP
51
2.25
0.53
n.p.
n.p.
47
5.58
1.28
n.p.
n.p.
27
1.65
0.52
n.p.
n.p.
60
11.6
0.23
n.p.
n.p.
41
2.01
1.53
n.p.
n.p.
70*
2.08
0.94
2.57
0.98
62
2.61
0.62
13.5
3.92
44
2.22
0.57
17.4
4.43
Figure
1.
Histogram
for
IgG
and
IgG2
an&-­‐PCP
levels
(mg/dL)
with
threshold
provided
by
the
supplier
(§)
and
percen&l
15
(p15)
in
our
cohort
(‡)
Schauer
U,
Stemberg
F,
Rieger
CH,
Büpner
W,
Borte
M,
Schubert
S,
et
al.
Levels
of
an&bodies
specific
to
tetanus
toxoid,
Haemophilus
influenzae
type
b,
and
pneumococcal
capsular
polysaccharide
in
healthy
children
and
adults.
Clin
Diagn
Lab
Immunol.
2003
Mar;10(2):202-­‐7.
Li
AM,
Sonnappa
S,
Lex
C,
Wong
E,
Zacharasiewicz
A,
Bush
A,
Jaffe
A.
Non-­‐CF
bronchiectasis:
does
knowing
the
ae&ology
lead
to
changes
in
management?
Eur
Respir
J.
2005
Jul;26(1):8-­‐14.
Orange
JS,
Ballow
M,
S&ehm
ER,
Ballas
ZK,
Chinen
J,
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La
Morena
M,
et
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Use
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J
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2012
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natachalsantos@gmail.com