title: mu-Chain gene expression in common variable immunodeficiency.
abstract: Three patients with common variable immunodeficiency (CVID) were analyzed for translation from mu mRNA by the cell-free translation method and for expression of mu mRNA by northern blotting. In cases 1 and 2, the mu chain was not detected in the products by cell-free translation nor was mu mRNA detected by northern blotting. In case 3, mu mRNA was detected at a low level. This suggests that the disorders occur between rearrangement of the Ig genes and transcription of the C mu gene in cases 1 and 2, and that the functions of rearrangement and transcription are qualitatively preserved to a certain degree in case 3. Thus, the pathogeneses of CVID are variable and more research on regulatory mechanisms of B cell development is necessary to understand each case of CVID.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Mushiake
authors.forename: F
authors.initials: F
authors.lastname: Motoyoshi
authors.forename: N
authors.initials: N
authors.lastname: Kondo
authors.forename: T
authors.initials: T
authors.lastname: Orii
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D017074:Common Variable Immunodeficiency / Q000209:etiology / Q000235:genetics* / Q000276:immunology*; D015870:Gene Expression; D015326:Gene Rearrangement, B-Lymphocyte, Heavy Chain; D006801:Humans; D007127:Immunoglobulin Constant Regions / Q000235:genetics; D007148:Immunoglobulin mu-Chains / Q000235:genetics*; D008297:Male; D014176:Protein Biosynthesis; D012333:RNA, Messenger / Q000235:genetics; D013601:T-Lymphocytes / Q000276:immunology; D014158:Transcription, Genetic
chemical_list: D007127:Immunoglobulin Constant Regions; D007148:Immunoglobulin mu-Chains; D012333:RNA, Messenger