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Multicenter Study
. 2020 Aug;146(2):429-437.
doi: 10.1016/j.jaci.2020.03.001. Epub 2020 Mar 10.

Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality

Vassilios Lougaris  1 , Annarosa Soresina  2 , Manuela Baronio  3 , Davide Montin  4 , Silvana Martino  4 , Sara Signa  5 , Stefano Volpi  5 , Marco Zecca  6 , Maddalena Marinoni  7 , Lucia Augusta Baselli  8 , Rosa Maria Dellepiane  8 , Maria Carrabba  9 , Giovanna Fabio  9 , Maria Caterina Putti  10 , Francesco Cinetto  11 , Claudio Lunardi  12 , Luisa Gazzurelli  3 , Alessio Benvenuto  3 , Patrizia Bertolini  13 , Francesca Conti  14 , Rita Consolini  15 , Silvia Ricci  16 , Chiara Azzari  16 , Lucia Leonardi  17 , Marzia Duse  17 , Federica Pulvirenti  18 , Cinzia Milito  18 , Isabella Quinti  18 , Caterina Cancrini  19 , Andrea Finocchi  19 , Viviana Moschese  20 , Emilia Cirillo  21 , Ludovica Crescenzi  22 , Giuseppe Spadaro  22 , Carolina Marasco  23 , Angelo Vacca  23 , Fabio Cardinale  24 , Baldassare Martire  25 , Antonino Trizzino  26 , Maria Licciardello  27 , Fausto Cossu  28 , Gigliola Di Matteo  19 , Raffaele Badolato  3 , Simona Ferrari  29 , Silvia Giliani  30 , Andrea Pession  14 , Alberto Ugazio  31 , Claudio Pignata  21 , Alessandro Plebani  32
Affiliations
Multicenter Study

Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality

Vassilios Lougaris et al. J Allergy Clin Immunol. 2020 Aug.

Abstract

Background: X-linked agammaglobulinemia (XLA) is the prototype of primary humoral immunodeficiencies. Long-term follow-up studies regarding disease-related complications and outcome are scarce.

Objective: Our aim was to describe the natural history of XLA.

Methods: A nationwide multicenter study based on the Italian Primary Immunodeficiency Network registry was established in 2000 in Italy. Affected patients were enrolled by documenting centers, and the patients' laboratory, clinical, and imaging data were recorded on an annual base.

Results: Data on the patients (N = 168) were derived from a cumulative follow-up of 1370 patient-years, with a mean follow-up of 8.35 years per patient. The mean age at diagnosis decreased after establishment of the Italian Primary Immunodeficiency Network registry (84 months before vs 23 months after). Respiratory, skin, and gastrointestinal manifestations were the most frequent clinical symptoms at diagnosis and during long-term follow-up. Regular immunoglobulin replacement treatment reduced the incidence of invasive infections. Affected patients developed chronic lung disease over time (47% after 40 years of follow-up) in the presence of chronic sinusitis (84%). Malignancies were documented in a minority of cases (3.7%). Overall survival for affected patients was significantly reduced when compared with that for the healthy male Italian population, and it further deteriorated in the presence of chronic lung disease.

Conclusions: This is the first detailed long-term follow-up study for patients with XLA, revealing that although immunoglobulin replacement treatment reduces the incidence of invasive infections, it does not appear to influence the development of chronic lung disease. The overall survival of affected patients is reduced. Further studies are warranted to improve patients' clinical management and increase awareness among physicians.

Keywords: Bruton tyrosine kinase; X-linked agammaglobulinemia; chronic lung disease.

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