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

Authors
  • Lougaris, Vassilios1
  • Soresina, Annarosa2
  • Baronio, Manuela3
  • Montin, Davide4
  • Martino, Silvana4
  • Signa, Sara5
  • Volpi, Stefano5
  • Zecca, Marco6
  • Marinoni, Maddalena7
  • Baselli, Lucia Augusta8
  • Dellepiane, Rosa Maria8
  • Carrabba, Maria9
  • Fabio, Giovanna9
  • Putti, Maria Caterina10
  • Cinetto, Francesco11
  • Lunardi, Claudio12
  • Gazzurelli, Luisa3
  • Benvenuto, Alessio3
  • Bertolini, Patrizia13
  • Conti, Francesca14
  • And 29 more
  • 1 Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili di Brescia, Brescia, Italy. Electronic address: [email protected] , (Italy)
  • 2 Pediatrics Clinic, ASST- Spedali Civili of Brescia, Brescia, Italy. , (Italy)
  • 3 Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili di Brescia, Brescia, Italy. , (Italy)
  • 4 Division of Pediatric Immunology and Rheumatology, Department of Public Health and Pediatrics, Regina Margherita Children Hospital, University of Turin, Turin, Italy. , (Italy)
  • 5 Centro Malattie Autoinfiammatorie e Immunodeficienze-Clinica Pediatrica e Reumatologia, IRCCS Giannina Gaslini, Genova, and Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili, Università di Genova, Genoa, Italy. , (Italy)
  • 6 Department of Pediatric Hematology of Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. , (Italy)
  • 7 Paediatric Department, ASST-Sette Laghi, F. Del Ponte Hospital, Varese, Italy. , (Italy)
  • 8 Department of Pediatrics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy. , (Italy)
  • 9 Department of Internal Medicine, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. , (Italy)
  • 10 Department of Women's and Children's Health, Pediatric Hematology-Oncology Unit, University of Padova, Padua, Italy. , (Italy)
  • 11 Padua University, Department of Medicine (DIMED), Internal Medicine I and Rare Disease Center for Immunologic, Rheumatologic and Respiratory Diseases, Ca' Foncello Hospital, Treviso, Italy. , (Italy)
  • 12 Department of Medicine, University of Verona, Verona, Italy. , (Italy)
  • 13 Paediatric Hematology Oncology Unit, Azienda Ospedaliero-Universitaria di Parma, Parma, Italy. , (Italy)
  • 14 Unit of Pediatrics, University of Bologna, St. Orsola University Hospital, Bologna, Italy. , (Italy)
  • 15 Section of Pediatrics Immunology and Rheumatology, Department of Pediatrics, University of Pisa, Pisa, Italy. , (Italy)
  • 16 Department of Pediatric Immunology, Jeffrey Modell Center for Primary Immunodeficiency, Anna Meyer's Hospital, University of Florence, Florence, Italy. , (Italy)
  • 17 Pediatrics Department, Umberto I Hospital, Sapienza University, Roma, Italy. , (Italy)
  • 18 Department of Molecular Medicine, Sapienza University of Roma, and Unit of Primary Immunodeficiencies in Adults, Department of Infective diseases and Internal Medicine, Policlinico Umberto I, Rome, Italy. , (Italy)
  • 19 University Department of Pediatrics, Unit of Immune and Infectious Diseases, Bambino Gesù Children's Hospital, University of Rome Tor Vergata, and the Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy. , (Italy)
  • 20 Department of Pediatrics, Policlinico Tor Vergata, Tor Vergata University, Rome, Italy. , (Italy)
  • 21 Pediatric Section, Department of Translational Medical Science, Federico II University, Naples, Italy. , (Italy)
  • 22 Department of Translational Medical Sciences, Allergy and Clinical Immunology Center for Basic and Clinical Immunology Research, University of Naples Federico II, Naples, Italy. , (Italy)
  • 23 Department of Biomedical Sciences and Human Oncology, Section of Internal Medicine and Clinical Oncology, University of Bari Medical School, Bari, Italy. , (Italy)
  • 24 Department of Pediatrics and Emergency, Pediatric Allergy and Pulmunology Unit, Azienda Ospedaliera-Universitaria Consorziale-Policlinico, Ospedale Pediatrico Giovanni XXIII, Bari, Italy. , (Italy)
  • 25 Pediatric Unit, Monsignor Dimiccoli Hospital, Barletta, Italy. , (Italy)
  • 26 Department of Pediatric Hematology and Oncology, ARNAS Civico Di Cristina and Benfratelli Hospital, Palermo, Italy. , (Italy)
  • 27 Haematology of Oncology Unit, Department of Pediatrics, University of Catania- Catania, Italy. , (Italy)
  • 28 Second Pediatric Clinic, Antonio Cao Hospital, University of Cagliari, Cagliari, Italy. , (Italy)
  • 29 Unit of Medical Genetics, St. Orsola University Hospital, University of Bologna, Bologna, Italy. , (Italy)
  • 30 Department of Molecular and Translational Medicine, A. Nocivelli Institute for Molecular Medicine, University of Brescia, Brescia, Italy. , (Italy)
  • 31 Institute of Child and Adolescent Health, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. , (Italy)
  • 32 Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili di Brescia, Brescia, Italy. Electronic address: [email protected] , (Italy)
Type
Published Article
Journal
The Journal of allergy and clinical immunology
Publication Date
Aug 01, 2020
Volume
146
Issue
2
Pages
429–437
Identifiers
DOI: 10.1016/j.jaci.2020.03.001
PMID: 32169379
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

X-linked agammaglobulinemia (XLA) is the prototype of primary humoral immunodeficiencies. Long-term follow-up studies regarding disease-related complications and outcome are scarce. Our aim was to describe the natural history of XLA. 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. 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. 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. Copyright © 2020 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

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