title: Identification and Characterization of a Nationwide Danish Adult Common Variable Immunodeficiency Cohort.
abstract: In this study, we identified all adults living in Denmark diagnosed with common variable immunodeficiency (CVID) and characterized them according to clinical presentation and EUROclass classification. Using a retrospective, cross-sectional design, possible CVID patients were identified in the Danish National Patient Register and Centers in Denmark treating patients with primary immunodeficiencies. The CVID diagnosis was verified by review of medical records. One-hundred-seventy-nine adults with CVID were identified. This corresponds to a prevalence of 1:26,000. The median age at onset of symptoms was 29 years with no sex difference. The median age at diagnosis was 40 years. Males were diagnosed earlier with a peak in the fourth decade of life, whereas females were diagnosed later with a peak in the sixth decade. The median diagnostic delay was seven years. Recurrent sinopulmonary infections were seen in 92.7% of the patients. The prevalence of non-infectious complications was similar to that of previously reported cohorts: bronchiectasis (35.8%), splenomegaly (22.4%), lymphadenopathy (26.3%), granulomatous inflammation (3.9%) and idiopathic thrombocytopenic purpura (14.5%). Non-infectious complications were strongly associated with B cell phenotype, with all having a reduced number of isotype-switched memory B cells. One-hundred-seventy (95%) were treated with immunoglobulin replacement therapy, primarily administered subcutaneously. According to international guidelines, diagnostic evaluation was inadequate in most cases. This study emphasizes the need for improved diagnostic criteria and more awareness of CVID as a differential diagnosis. Diagnosis and management of CVID patients is a challenge requiring specialists with experience in the field of PID.
authors.affiliation: Department of Infectious Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: L
authors.identifier: http://orcid.org/0000-0002-8333-2777
authors.initials: L
authors.lastname: Westh
authors.affiliation: Department of Infectious Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark.|International Center of Immunodeficiency Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: T H
authors.initials: TH
authors.lastname: Mogensen
authors.affiliation: Department of Infectious Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: L S
authors.initials: LS
authors.lastname: Dalgaard
authors.affiliation: Department of Clinical Immunology, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: J M
authors.initials: JM
authors.lastname: Bernth Jensen
authors.affiliation: Department of Infectious Diseases, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
authors.forename: T
authors.initials: T
authors.lastname: Katzenstein
authors.affiliation: Department of Infectious Diseases, Copenhagen University Hospital, Hvidovre, Copenhagen, Denmark.
authors.forename: A-B E
authors.initials: AE
authors.lastname: Hansen
authors.affiliation: Department of Infectious Diseases, Odense University Hospital, Odense, Denmark.
authors.forename: O D
authors.initials: OD
authors.lastname: Larsen
authors.affiliation: Department of Infectious Diseases, Aalborg University Hospital, Aalborg, Denmark.
authors.forename: S
authors.initials: S
authors.lastname: Terpling
authors.affiliation: Department of Infectious Diseases, North Sealand Hospital, Hilleroed, Denmark.
authors.forename: T L
authors.initials: TL
authors.lastname: Nielsen
authors.affiliation: Department of Infectious Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark.|International Center of Immunodeficiency Diseases, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: C S
authors.initials: CS
authors.lastname: Larsen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001402:B-Lymphocytes / Q000276:immunology / Q000378:metabolism; D001987:Bronchiectasis / Q000453:epidemiology; D017074:Common Variable Immunodeficiency / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy*; D015897:Comorbidity; D003430:Cross-Sectional Studies; D057210:Delayed Diagnosis; D003718:Denmark / Q000453:epidemiology; D005260:Female; D005767:Gastrointestinal Diseases / Q000453:epidemiology; D005820:Genetic Testing / Q000379:methods / Q000706:statistics & numerical data; D006801:Humans; D007156:Immunologic Memory / Q000276:immunology; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000453:epidemiology; D012042:Registries / Q000706:statistics & numerical data*; D012189:Retrospective Studies; D013163:Splenomegaly / Q000453:epidemiology; D013997:Time Factors; D055815:Young Adult