Publication details

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

Authors	GATHMANN Benjamin MAHLAOUI Nizar GÉRARD Laurence OKSENHENDLER Eric WARNATZ Klaus SCHULZE Ilka KINDLE Gerhard KUIJPERS Taco W. BEEM Rachel T. van GUZMAN David WORKMAN Sarita SOLER-PALACÍN Pete GRACIA Javier De WITTE Torsten SCHMIDT Reinhold E. LITZMAN Jiří HLAVACKOVA Eva THON Vojtěch BORTE Michael BORTE Stephan KUMARARATNE Dinakantha FEIGHERY Conleth LONGHURST Hilary HELBERT Matthew SZAFLARSKA Anna SEDIVA Anna BELOHRADSKY Bernd H. JONES Alison BAUMANN Ulrich MEYTS Isabelle KUTUKCULER Necil WAGSTROM Per GALAL Nermeen Mouftah ROESLER Joachim FARMAKI Evangelia ZINOVIEVA Natalia CIZNAR Peter PAPADOPOULOU-ALATAKI Efimia BIENEMANN Kirsten VELBRI Sirje PANAHLOO Zoya GRIMBACHER Bodo
Year of publication	2014
Type	Article in Periodical
Magazine / Source	JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
MU Faculty or unit	Faculty of Medicine
Citation
Doi	http://dx.doi.org/10.1016/j.jaci.2013.12.1077
Field	Immunology
Keywords	Common variable immunodeficiency; immunoglobulin replacement; patient self-reported outcomes; quality of life; primary antibody deficiency; autoimmunity; enteropathy; granulomas; lymphadenopathy; treatment
Description	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.