title: Age-related changes in BAFF and APRIL profiles and upregulation of BAFF and APRIL expression in patients with primary antibody deficiency.
abstract: In some patients with common variable immunodeficiency (CVID) and immunoglobulin (Ig) A deficiency (IgAD), tumor necrosis factor (TNF) family receptor transmembrane activator and calcium-modulator and cyclophilin ligand interactor (TACI) gene mutations have been reported. B cells from individuals with TACI mutations do not produce IgG and IgA in response to the TACI ligand a proliferation-inducing ligand (APRIL) which probably suggests impaired isotype switching. To clarify the pathogenesis of CVID and IgAD of Japanese patients, we investigated the mutations of TNF family members TACI, APRIL, B-cell activating factor (BAFF), B-cell maturation antigen (BCMA) and BAFF receptor (BAFF-R) genes and the expression levels of BAFF and APRIL in patients with CVID, IgAD and X-linked agammaglobulinaemia (XLA). We also investigated the relationship between age and the blood plasma levels of BAFF and APRIL. The causative gene mutations of TNF family members in our patients were not detected. In healthy subjects, the BAFF and APRIL plasma levels correlated inversely with age. The BAFF and APRIL plasma levels of patients with CVID, IgAD and XLA were significantly higher than those of healthy children. Elevated BAFF and APRIL expression levels might partially reflect the common immunological feature of primary antibody deficiency.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1194, Japan.
authors.forename: Rong
authors.initials: R
authors.lastname: Jin
authors.forename: Hideo
authors.initials: H
authors.lastname: Kaneko
authors.forename: Hiroko
authors.initials: H
authors.lastname: Suzuki
authors.forename: Takahiro
authors.initials: T
authors.lastname: Arai
authors.forename: Takahide
authors.initials: T
authors.lastname: Teramoto
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukao
authors.forename: Naomi
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000293:Adolescent; D000328:Adult; D000375:Aging / Q000235:genetics*; D053264:B-Cell Activating Factor / Q000097:blood / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D017074:Common Variable Immunodeficiency / Q000235:genetics; D005260:Female; D006801:Humans; D017098:IgA Deficiency / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D053300:Tumor Necrosis Factor Ligand Superfamily Member 13 / Q000097:blood / Q000235:genetics*; D015854:Up-Regulation / Q000235:genetics*
chemical_list: D053264:B-Cell Activating Factor; D012333:RNA, Messenger; C114631:TNFSF13 protein, human; D053300:Tumor Necrosis Factor Ligand Superfamily Member 13