title: CD3 ζ defects in systemic lupus erythematosus.
abstract: The prototype autoimmune disease, systemic lupus erythematosus (SLE), has been known to be associated with deficiency of ζ chain, a component of the T-cell receptor-CD3 complex. Comprehensive analysis has shown that expression of the CD3 ζ chain is attenuated or absent in over half of SLE patients. Furthermore, aberrant transcripts of the CD3 ζ chain, including spliced variants lacking exon 7 or having a short 3'-untranslated region, have been detected in SLE T cells. Although attenuated expression of the CD3 ζ chain is also observed in cancer patients, infections and other autoimmune diseases, sustained attenuation of the CD3 ζ expression accompanied with aberrant transcripts are only observed in SLE. In this study, the authors review the unique features of CD3 ζ defects observed in SLE and discuss the molecular basis of the defects by recent findings in animal models, single-nucleotide polymorphisms and genome-wide association studies.
authors.affiliation: Department of Internal Medicine, Division of Rheumatology, School of Medicine, Keio University, Tokyo, Japan. tsutake@z5.keio.jp
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Takeuchi
authors.forename: Katsuya
authors.initials: K
authors.lastname: Suzuki
authors.forename: Tsuneo
authors.initials: T
authors.lastname: Kondo
authors.forename: Keiko
authors.initials: K
authors.lastname: Yoshimoto
authors.forename: Kensei
authors.initials: K
authors.lastname: Tsuzaka
mesh_terms: D000818:Animals; D017252:CD3 Complex / Q000235:genetics* / Q000378:metabolism; D004195:Disease Models, Animal; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D051379:Mice; D020641:Polymorphism, Single Nucleotide; D020033:Protein Isoforms; D015398:Signal Transduction / Q000235:genetics
chemical_list: D017252:CD3 Complex; C121704:CD3 antigen, zeta chain; D020033:Protein Isoforms