title: Semiquantitative evaluation of mRNAs for the membranous form of immunoglobulin heavy chain is useful for investigating the etiology in CVID.
abstract: Common variable immunodeficiency (CVID) is a primary antibody deficiency syndrome characterized by defective B-cell maturation and antibody formation resulting in low serum antibody levels of all immunoglobulin (Ig) isotypes. To investigate the pathogenesis of CVID, we developed a set of competitive polymerase chain reaction for membrane-bound Ig heavy chain (mHC) mRNAs for IgM, IgG and IgA. Data on three children with CVID in group A of Bryant's classification were analysed. All the three mHC mRNA levels in Patient 1 were almost same as those in healthy controls. In Patient 2, mHC mRNA for IgM was detected at a level similar to that in controls, but mHC mRNAs for IgG and IgA heavy chains were not detected. In Patient 3, all the three mHC mRNAs were undetectable. Our data suggest that a different molecular basis exists in these patients with CVID even though all belong to group A of Bryant's classification. Use of our method facilitates a better understanding of molecular events in CVID patients and may be useful for precise classifications of CVID.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Gifu, Japan. tterada@cc.gifu-u.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Terada
authors.forename: H
authors.initials: H
authors.lastname: Kaneko
authors.forename: T
authors.initials: T
authors.lastname: Fukao
authors.forename: T
authors.initials: T
authors.lastname: Teramoto
authors.forename: T
authors.initials: T
authors.lastname: Asano
authors.forename: A L
authors.initials: AL
authors.lastname: Li
authors.forename: K
authors.initials: K
authors.lastname: Kasahara
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D002648:Child; D017074:Common Variable Immunodeficiency / Q000145:classification / Q000209:etiology* / Q000276:immunology; D005260:Female; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D007223:Infant; D012333:RNA, Messenger / Q000032:analysis*; D011947:Receptors, Antigen, B-Cell / Q000032:analysis / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D007143:Immunoglobulin Heavy Chains; D012333:RNA, Messenger; D011947:Receptors, Antigen, B-Cell