Expression of immunoglobulin genes in common variable immunodeficiency.
Five common variable immunodeficiency (CVI) patients were analyzed for expression of immunoglobulin (Ig) genes. In the pokeweed mitogen (PWM)-induced Ig-production assay, the combination of T and B cells showed that all patients' T cells had normal helper functions and all patients' B cells had profound defects. The defective B-cell maturation stages based on their Ig gene expression patterns were variable. One of five patients showed normal mu-chain gene expression and nearly normal IgM production, but neither IgG nor IgA production, which suggested that this patient's B-cell defects might lie on a mu- to gamma or mu- to alpha class-switch stage. B cells in another patient showed low mu-chain gene expression and low IgM production, but an Ig enhancer region, which is an important region for expression of Ig genes, was intact. Thus, this patient might have a transacting factor defect which interacts with the Ig enhancer region. The other three patients showed no mu-chain gene expression and no IgM production. Thus, their B-cell defects lay on the B-cell maturation stage, similar to X-linked agammaglobulinemia. These results showed that primary B-cell defects in CVI occurred at several B-cell differentiation stages, which could be recognized by expression of Ig genes.
Kaneko
H
H
Department of Pediatrics, Gifu University School of Medicine, Japan.
Kondo
N
N
Motoyoshi
F
F
Mori
S
S
Kobayashi
Y
Y
Inoue
Y
Y
Orii
T
T
D000328:Adult; D001402:B-Lymphocytes / Q000276:immunology; D001483:Base Sequence; D015152:Blotting, Northern; D002648:Child; D002675:Child, Preschool; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D015870:Gene Expression; D005803:Genes, Immunoglobulin / Q000276:immunology*; D006801:Humans; D007148:Immunoglobulin mu-Chains / Q000235:genetics; D007136:Immunoglobulins / Q000096:biosynthesis; D007153:Immunologic Deficiency Syndromes / Q000276:immunology*; D016130:Immunophenotyping; D008213:Lymphocyte Activation / Q000276:immunology; D008297:Male; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000032:analysis; D013601:T-Lymphocytes / Q000276:immunology; D006377:T-Lymphocytes, Helper-Inducer / Q000276:immunology
D007148:Immunoglobulin mu-Chains; D007136:Immunoglobulins; D012333:RNA, Messenger