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J Allergy Clin Immunol. 2014 Jul;134(1):116-26. doi: 10.1016/j.jaci.2013.12.1077. Epub 2014 Feb 28.

Clinical picture and treatment of 2212 patients with common variable immunodeficiency.

Author information

1
Center for Chronic Immunodeficiency (CCI), University Medical Centre Freiburg and University of Freiburg, Freiburg, Germany.
2
Assistance Publique-Hôpitaux de Paris, Service d'Immuno-Hématologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Paris, France, Assistance Publique-Hôpitaux de Paris, CEREDIH, Centre de Référence des Déficits Immunitaires Héréditaires, Hôpital Universitaire Necker-Enfants Malades, Paris, France, and Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France.
3
Department of Clinical Immunology, Hôpital Saint-Louis, AP-HP and Univ Paris Diderot, Sorbonne Paris Cité, EA3963, Paris, France, Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Paris, France, and the DEFI study group.
4
Dutch Working Party for Immunodeficiencies (WID), Amsterdam, The Netherlands.
5
Medical Department Sanquin Blood Supply Foundation, Amsterdam, The Netherlands.
6
UCL Medical School Royal Free Campus and Royal Free Hospital NHS Foundation Trust, London, United Kingdom.
7
Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Vall d'Hebron Research Institute, Barcelona, Spain.
8
Department of Pneumology, Hospital Universitari Vall d'Hebron, UAB, CIBER Enfermedades Respiratorias (CIBERES), Barcelona, Spain.
9
Clinic for Immunology and Rheumatology, Medical University Hannover, Hannover, Germany.
10
Department of Clinical Immunology and Allergology, Faculty of Medicine, Masaryk University and St Anne's University Hospital, Brno, Czech Republic.
11
St Anne's University Hospital, Brno, Czech Republic.
12
Department of Clinical Immunology and Allergy, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
13
Children's Hospital, Municipal Hospital "St Georg," Academic Teaching Hospital of the University of Leipzig, Leipzig, Germany.
14
Children's Hospital, Municipal Hospital "St Georg," Academic Teaching Hospital of the University of Leipzig, Leipzig, Germany; Translational Centre for Regenerative Medicine, University of Leipzig, Leipzig, Germany.
15
Department of Clinical Biochemistry and Immunology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
16
Department of Immunology, St James's Hospital Dublin and Trinity College Dublin, Dublin, Ireland.
17
Department of Immunology, Barts Health NHS Trust, London, United Kingdom.
18
Central Manchester and Manchester Children's University Hospitals NHS Trust, Manchester, United Kingdom.
19
Children University Hospital, Krakow, Poland.
20
Department of Immunology, 2nd School of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
21
Dr v. Haunersches Kinderspital, Ludwig Maximilians University, Munich, Germany.
22
Institute of Child Health/Great Ormond Street Hospital, London, United Kingdom.
23
Immunology Unit, Paediatric Pulmonology, Allergy and Neonatology, Hannover Medical School, Hannover, Germany.
24
Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
25
Department of Pediatric Immunology, Ege University Faculty of Medicine, Izmir, Turkey.
26
Department of Infectious Diseases, County Hospital Ryhov Jönköping, Jönköping, Sweden.
27
Primary Immunodeficiency Clinic, Department of Pediatrics, Cairo University, Cairo, Egypt.
28
Department of Pediatrics, University Hospital Dresden, Dresden, Germany.
29
Pediatric Immunology and Rheumatology Referral Centre, First Department of Pediatrics, Ippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
30
Research and Clinical Centre for Pediatric Hematology, Oncology, Immunology, Moscow, Russia.
31
1st Pediatric Department, Faculty of Medicine, Comenius University and Children University Hospital, Bratislava, Slovakia.
32
Aristotle University of Thessaloniki, Fourth Department of Pediatrics, Papageorgiou Hospital, Thessaloniki, Greece.
33
Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
34
Tallinn Children's Hospital, Tallinn, Estonia.
35
Medical Science Department, CSL Behring, West Sussex, United Kingdom.
36
Center for Chronic Immunodeficiency (CCI), University Medical Centre Freiburg and University of Freiburg, Freiburg, Germany; UCL Medical School Royal Free Campus and Royal Free Hospital NHS Foundation Trust, London, United Kingdom. Electronic address: bodo.grimbacher@uniklinik-freiburg.de.

Abstract

BACKGROUND:

Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation. The main features include respiratory tract infections and their associated complications, enteropathy, autoimmunity, and lymphoproliferative disorders.

OBJECTIVE:

This study analyzes the clinical presentation, association between clinical features, and differences and effects of immunoglobulin treatment in Europe.

METHODS:

Data on 2212 patients with CVID from 28 medical centers contributing to the European Society for Immunodeficiencies Database were analyzed retrospectively.

RESULTS:

Early disease onset (<10 years) was very frequent in our cohort (33.7%), especially in male subjects (39.8%). Male subjects with early-onset CVID were more prone to pneumonia and less prone to other complications suggesting a distinct disease entity. The diagnostic delay of CVID ranges between 4 and 5 years in many countries and is particularly high in subjects with early-onset CVID. Enteropathy, autoimmunity, granulomas, and splenomegaly formed a set of interrelated features, whereas bronchiectasis was not associated with any other clinical feature. Patient survival in this cohort was associated with age at onset and age at diagnosis only. There were different treatment strategies in Europe, with considerable differences in immunoglobulin dosing, ranging from 130 up to 750 mg/kg/mo. Patients with very low trough levels of less than 4 g/L had poor clinical outcomes, whereas higher trough levels were associated with a reduced frequency of serious bacterial infections.

CONCLUSION:

Patients with CVID are being managed differently throughout Europe, affecting various outcome measures. Clinically, CVID is a truly variable antibody deficiency syndrome.

KEYWORDS:

Common variable immunodeficiency; autoimmunity; enteropathy; granulomas; immunoglobulin replacement; lymphadenopathy; patient self-reported outcomes; primary antibody deficiency; quality of life; treatment

PMID:
24582312
DOI:
10.1016/j.jaci.2013.12.1077
[Indexed for MEDLINE]

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