title: Unusual case presentations associated with the CD45 C77G polymorphism.
abstract: CD45, the leucocyte common antigen, is a haematopoietic cell specific tyrosine phosphatase. Human polymorphic CD45 variants are associated with autoimmune and infectious diseases and alter the phenotype and function of lymphocytes, establishing CD45 as an important regulator of immune function. Here we report four patients with diverse diseases with unusual clinical features. All four have the C77G polymorphism of CD45 exon 4, which alters the splicing and CD45RA/CD45R0 phenotype of lymphocytes. We suggest that C77G may be a contributing factor in these unusual cases.
authors.affiliation: The Edward Jenner Institute for Vaccine Research, Compton, Berkshire, UK.
authors.forename: E Z
authors.initials: EZ
authors.lastname: Tchilian
authors.forename: J
authors.initials: J
authors.lastname: Gil
authors.forename: M L
authors.initials: ML
authors.lastname: Navarro
authors.forename: E
authors.initials: E
authors.lastname: Fernandez-Cruz
authors.forename: H
authors.initials: H
authors.lastname: Chapel
authors.forename: S
authors.initials: S
authors.lastname: Misbah
authors.forename: B
authors.initials: B
authors.lastname: Ferry
authors.forename: H
authors.initials: H
authors.lastname: Renz
authors.forename: R
authors.initials: R
authors.lastname: Schwinzer
authors.forename: P C L
authors.initials: PC
authors.lastname: Beverley
mesh_terms: D000038:Abscess / Q000235:genetics / Q000276:immunology; D000328:Adult; D002648:Child; D017074:Common Variable Immunodeficiency / Q000235:genetics* / Q000276:immunology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D016867:Immunocompromised Host / Q000235:genetics; D017493:Leukocyte Common Antigens / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009205:Myocarditis / Q000235:genetics / Q000276:immunology; D009894:Opportunistic Infections / Q000235:genetics* / Q000276:immunology; D011110:Polymorphism, Genetic; D012326:RNA Splicing; D012480:Salmonella Infections / Q000235:genetics / Q000276:immunology; D013158:Splenic Diseases / Q000235:genetics / Q000276:immunology
chemical_list: D017493:Leukocyte Common Antigens