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PMID: 17100764 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Unusual case presentations associated with the CD45 C77G polymorphism.

Clinical and experimental immunology ·Vol. 146 ·No. 3 ·2006-12-00 ·Pages 448-54

Tchilian EZ, Gil J, Navarro ML, Fernandez-Cruz E, Chapel H, Misbah S, Ferry B, Renz H, Schwinzer R, Beverley PC

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.

MeSH Terms
Abscess/genetics,immunology Adult Child Common Variable Immunodeficiency/genetics,immunology Female Genetic Predisposition to Disease Humans Immunocompromised Host/genetics Leukocyte Common Antigens/genetics Male Middle Aged Myocarditis/genetics,immunology Opportunistic Infections/genetics,immunology Polymorphism, Genetic RNA Splicing Salmonella Infections/genetics,immunology Splenic Diseases/genetics,immunology
Chemicals
Leukocyte Common Antigens
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Tchilian E Z
The Edward Jenner Institute for Vaccine Research, Compton, Berkshire, UK.
Gil J
Navarro M L
Fernandez-Cruz E
Chapel H
Misbah S
Ferry B
Renz H
Schwinzer R
Beverley P C L
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Article Info
Journal
Clinical and experimental immunology
Abbr.
Clin Exp Immunol
ISSN
0009-9104
DOI
10.1111/j.1365-2249.2006.03230.x
Published
2006-12-00
Pages
448-54
Language
English
Region
England
NLM ID
0057202
PMCID
PMC1810399
Subset
IM
External Links
PubMed source DOI: 10.1111/j.1365-2249.2006.03230.x PMC Full Text View journal details
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