Adult diagnosed primary immunodeficiency diseases in patients with bronchiectasis

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&en t s w i th non -‐ cy s&c fib ros i s

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, De La Morena M, et al. Use and interpreta&on of diagnos&c vaccina&on in primary immunodeficiency. J Allergy Clin Immunol. 2012 Sep;130(3 Suppl):S1-‐24.

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Health & Medicine

Adult diagnosed primary immunodeficiency diseases in patients with bronchiectasis