title: Lymphocyte characteristics in children with common variable immunodeficiency.
abstract: The diagnosis of common variable immunodeficiency (CVID) is reserved for patients who suffer from undefined B cell dysfunction. Division of the CVID population into subgroups enables research for underlying disease causes. We studied clinical features and lymphocyte characteristics in 38 children with CVID and compared them to 30 children with less severe antibody deficiencies (e.g. specific antibody deficiency combined with IgG subclass deficiency) and with 65 pediatric controls. Most pediatric immune phenotypes were comparable to adult CVID phenotypes, including a selective increase in newly formed B cells and a decrease in memory B cells and CD4(+) T cells. Eighteen percent of pediatric patients had a mutation in the TNFRSF13B gene, which requires further investigation. Finally, pediatric patients with decreased class-switched memory B cells had significantly more complications. A pediatric classification for CVID may enable prediction and early diagnosis of disease related complications and provide a framework for further etiologic research.
authors.affiliation: Department of Pediatric Immunology and Infectious Diseases, Wilhelmina Children's Hospital, Utrecht, The Netherlands. A.A.J.M.vandeVen@umcutrecht.nl
authors.forename: Annick A J M
authors.initials: AA
authors.lastname: van de Ven
authors.forename: Lisette
authors.initials: L
authors.lastname: van de Corput
authors.forename: Cornelis M
authors.initials: CM
authors.lastname: van Tilburg
authors.forename: Kiki
authors.initials: K
authors.lastname: Tesselaar
authors.forename: Rogier
authors.initials: R
authors.lastname: van Gent
authors.forename: Elisabeth A M
authors.initials: EA
authors.lastname: Sanders
authors.forename: Marianne
authors.initials: M
authors.lastname: Boes
authors.forename: Andries C
authors.initials: AC
authors.lastname: Bloem
authors.forename: Joris M
authors.initials: JM
authors.lastname: van Montfrans
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology*; D002454:Cell Differentiation / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D017074:Common Variable Immunodeficiency / Q000097:blood / Q000235:genetics / Q000276:immunology*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D005434:Flow Cytometry; D014644:Genetic Variation; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D017422:Sequence Analysis, DNA; D018709:Statistics, Nonparametric; D013601:T-Lymphocytes / Q000276:immunology*; D053303:Transmembrane Activator and CAML Interactor Protein / Q000235:genetics / Q000276:immunology
chemical_list: C108467:TNFRSF13B protein, human; D053303:Transmembrane Activator and CAML Interactor Protein; D004247:DNA