Lymphocyte characteristics in children with common variable immunodeficiency.
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.
van de Ven
Annick A J M
AA
Department of Pediatric Immunology and Infectious Diseases, Wilhelmina Children's Hospital, Utrecht, The Netherlands. A.A.J.M.vandeVen@umcutrecht.nl
van de Corput
Lisette
L
van Tilburg
Cornelis M
CM
Tesselaar
Kiki
K
van Gent
Rogier
R
Sanders
Elisabeth A M
EA
Boes
Marianne
M
Bloem
Andries C
AC
van Montfrans
Joris M
JM
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
C108467:TNFRSF13B protein, human; D053303:Transmembrane Activator and CAML Interactor Protein; D004247:DNA