Literature DB >> 17100764

Unusual case presentations associated with the CD45 C77G polymorphism.

E Z Tchilian1, J Gil, M L Navarro, E Fernandez-Cruz, H Chapel, S Misbah, B Ferry, H Renz, R Schwinzer, P C L Beverley.   

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.

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Year:  2006        PMID: 17100764      PMCID: PMC1810399          DOI: 10.1111/j.1365-2249.2006.03230.x

Source DB:  PubMed          Journal:  Clin Exp Immunol        ISSN: 0009-9104            Impact factor:   4.330


  47 in total

1.  Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease.

Authors:  C Kung; J T Pingel; M Heikinheimo; T Klemola; K Varkila; L I Yoo; K Vuopala; M Poyhonen; M Uhari; M Rogers; S H Speck; T Chatila; M L Thomas
Journal:  Nat Med       Date:  2000-03       Impact factor: 53.440

Review 2.  CD45: new jobs for an old acquaintance.

Authors:  J M Penninger; J Irie-Sasaki; T Sasaki; A J Oliveira-dos-Santos
Journal:  Nat Immunol       Date:  2001-05       Impact factor: 25.606

3.  A point mutation in PTPRC is associated with the development of multiple sclerosis.

Authors:  M Jacobsen; D Schweer; A Ziegler; R Gaber; S Schock; R Schwinzer; K Wonigeit; R B Lindert; O Kantarci; J Schaefer-Klein; H I Schipper; W H Oertel; F Heidenreich; B G Weinshenker; N Sommer; B Hemmer
Journal:  Nat Genet       Date:  2000-12       Impact factor: 38.330

4.  The balance between CD45RChigh and CD45RClow CD4 T cells in rats is intrinsic to bone marrow-derived cells and is genetically controlled.

Authors:  J F Subra; B Cautain; E Xystrakis; M Mas; D Lagrange; H van der Heijden; M J van de Gaar; P Druet; G J Fournié; A Saoudi; J Damoiseaux
Journal:  J Immunol       Date:  2001-03-01       Impact factor: 5.422

5.  PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients.

Authors:  L F Barcellos; S Caillier; L Dragone; M Elder; E Vittinghoff; P Bucher; R R Lincoln; M Pericak-Vance; J L Haines; A Weiss; S L Hauser; J R Oksenberg
Journal:  Nat Genet       Date:  2001-09       Impact factor: 38.330

Review 6.  Interferon-gamma and interleukin-12 pathway defects and human disease.

Authors:  S E Dorman; S M Holland
Journal:  Cytokine Growth Factor Rev       Date:  2000-12       Impact factor: 7.638

7.  A deletion in the gene encoding the CD45 antigen in a patient with SCID.

Authors:  E Z Tchilian; D L Wallace; R S Wells; D R Flower; G Morgan; P C Beverley
Journal:  J Immunol       Date:  2001-01-15       Impact factor: 5.422

8.  Does 77C-->G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?

Authors:  I Vorechovsky; J Kralovicova; E Tchilian; T Masterman; Z Zhang; B Ferry; S Misbah; H Chapel; D Webster; D Hellgren; M Anvret; J Hillert; L Hammarstrom; P C Beverley
Journal:  Nat Genet       Date:  2001-09       Impact factor: 38.330

9.  The exon A (C77G) mutation is a common cause of abnormal CD45 splicing in humans.

Authors:  E Z Tchilian; D L Wallace; N Imami; H X Liao; C Burton; F Gotch; J Martinson; B F Haynes; P C Beverley
Journal:  J Immunol       Date:  2001-05-15       Impact factor: 5.422

10.  Search for poliovirus carriers among people with primary immune deficiency diseases in the United States, Mexico, Brazil, and the United Kingdom.

Authors:  Neal A Halsey; Jorge Pinto; Francisco Espinosa-Rosales; María A Faure-Fontenla; Edson da Silva; Aamir J Khan; A D Webster; Philip Minor; Glynis Dunn; Edwin Asturias; Hamidah Hussain; Mark A Pallansch; Olen M Kew; Jerry Winkelstein; Roland Sutter
Journal:  Bull World Health Organ       Date:  2004-01       Impact factor: 9.408

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  5 in total

1.  Genetic differences in bone marrow-derived lymphoid lineages control susceptibility to experimental autoimmune myocarditis.

Authors:  Haiyan S Li; Davinna L Ligons; Noel R Rose; Mehmet L Guler
Journal:  J Immunol       Date:  2008-06-01       Impact factor: 5.422

Review 2.  Genetic complexity of autoimmune myocarditis.

Authors:  Haiyan S Li; Davinna L Ligons; Noel R Rose
Journal:  Autoimmun Rev       Date:  2007-12-03       Impact factor: 9.754

Review 3.  Myocarditis.

Authors:  Lori A Blauwet; Leslie T Cooper
Journal:  Prog Cardiovasc Dis       Date:  2010 Jan-Feb       Impact factor: 8.194

4.  The CD45 77C/G allele is not associated with myasthenia gravis - a reassessment of the potential role of CD45 in autoimmunity.

Authors:  Ryan Ramanujam; Ritva Pirskanen; Lennart Hammarström
Journal:  BMC Res Notes       Date:  2010-11-10

5.  Monozygotic Twins Concordant for Common Variable Immunodeficiency: Strikingly Similar Clinical and Immune Profile Associated With a Polygenic Burden.

Authors:  Susana L Silva; Mariana Fonseca; Marcelo L M Pereira; Sara P Silva; Rita R Barbosa; Ana Serra-Caetano; Elena Blanco; Pedro Rosmaninho; Martin Pérez-Andrés; Ana Berta Sousa; Alexandre A S F Raposo; Margarida Gama-Carvalho; Rui M M Victorino; Lennart Hammarstrom; Ana E Sousa
Journal:  Front Immunol       Date:  2019-11-22       Impact factor: 7.561

  5 in total

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