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  (‡)    

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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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