Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

Alison J. Coffey, Robert A. Brooksbank, Oliver Brandau, Toshitaka Oohashi, Gareth R. Howell, Jacqueline M. Bye, Anthony P. Cahn, Jillian Durham, Paul Heath, Paul Wray, Rebecca Pavitt, Jane Wilkinson, Margaret Leversha, Elizabeth Huckle, Charles J. Shaw-Smith, Andrew Dunham, Susan Rhodes, Volker Schuster, Giovanni Porta, Luo YinPaola Serafini, Bakary Sylla, Massimo Zollo, Brunella Franco, Alessandra Bolino, Marco Seri, A. Lányi, Jack R. Davis, David Webster, Ann Harris, Gilbert Lenoir, Genevieve St De Basile, Alison Jones, Bernd H. Behloradsky, Helene Achatz, Jan Murken, Reinhard Fassler, Janos Sumegi, Giovanni Romeo, Mark Vaudin, Mark T. Ross, Alfons Meindl, David R. Bentley

Research output: Contribution to journalArticle

578 Citations (Scopus)

Abstract

X-linked lymphoproliferative syndrome (XLP or Duncan disease) is characterized by extreme sensitivity to Epstein-Barr virus (EBV), resulting in a complex phenotype manifested by severe or fatal infectious mononucleosis, acquired hypogammaglobulinemia and malignant lymphoma. We have identified a gene, SH2D1A, that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain. SH2D1A is expressed in many tissues involved in the immune system. The identification of SH2D1A will allow the determination of its mechanism of action as a possible regulator of the EBV-induced immune response.

Original languageEnglish
Pages (from-to)129-135
Number of pages7
JournalNature Genetics
Volume20
Issue number2
DOIs
Publication statusPublished - 1998

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Epstein-Barr Virus Infections
src Homology Domains
Lymphoproliferative Disorders
Human Herpesvirus 4
Common Variable Immunodeficiency
Infectious Mononucleosis
Mutation
Genes
Immune System
Lymphoma
Phenotype
Proteins

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Coffey, A. J., Brooksbank, R. A., Brandau, O., Oohashi, T., Howell, G. R., Bye, J. M., ... Bentley, D. R. (1998). Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nature Genetics, 20(2), 129-135. https://doi.org/10.1038/2424

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. / Coffey, Alison J.; Brooksbank, Robert A.; Brandau, Oliver; Oohashi, Toshitaka; Howell, Gareth R.; Bye, Jacqueline M.; Cahn, Anthony P.; Durham, Jillian; Heath, Paul; Wray, Paul; Pavitt, Rebecca; Wilkinson, Jane; Leversha, Margaret; Huckle, Elizabeth; Shaw-Smith, Charles J.; Dunham, Andrew; Rhodes, Susan; Schuster, Volker; Porta, Giovanni; Yin, Luo; Serafini, Paola; Sylla, Bakary; Zollo, Massimo; Franco, Brunella; Bolino, Alessandra; Seri, Marco; Lányi, A.; Davis, Jack R.; Webster, David; Harris, Ann; Lenoir, Gilbert; De Basile, Genevieve St; Jones, Alison; Behloradsky, Bernd H.; Achatz, Helene; Murken, Jan; Fassler, Reinhard; Sumegi, Janos; Romeo, Giovanni; Vaudin, Mark; Ross, Mark T.; Meindl, Alfons; Bentley, David R.

In: Nature Genetics, Vol. 20, No. 2, 1998, p. 129-135.

Research output: Contribution to journalArticle

Coffey, AJ, Brooksbank, RA, Brandau, O, Oohashi, T, Howell, GR, Bye, JM, Cahn, AP, Durham, J, Heath, P, Wray, P, Pavitt, R, Wilkinson, J, Leversha, M, Huckle, E, Shaw-Smith, CJ, Dunham, A, Rhodes, S, Schuster, V, Porta, G, Yin, L, Serafini, P, Sylla, B, Zollo, M, Franco, B, Bolino, A, Seri, M, Lányi, A, Davis, JR, Webster, D, Harris, A, Lenoir, G, De Basile, GS, Jones, A, Behloradsky, BH, Achatz, H, Murken, J, Fassler, R, Sumegi, J, Romeo, G, Vaudin, M, Ross, MT, Meindl, A & Bentley, DR 1998, 'Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene', Nature Genetics, vol. 20, no. 2, pp. 129-135. https://doi.org/10.1038/2424
Coffey, Alison J. ; Brooksbank, Robert A. ; Brandau, Oliver ; Oohashi, Toshitaka ; Howell, Gareth R. ; Bye, Jacqueline M. ; Cahn, Anthony P. ; Durham, Jillian ; Heath, Paul ; Wray, Paul ; Pavitt, Rebecca ; Wilkinson, Jane ; Leversha, Margaret ; Huckle, Elizabeth ; Shaw-Smith, Charles J. ; Dunham, Andrew ; Rhodes, Susan ; Schuster, Volker ; Porta, Giovanni ; Yin, Luo ; Serafini, Paola ; Sylla, Bakary ; Zollo, Massimo ; Franco, Brunella ; Bolino, Alessandra ; Seri, Marco ; Lányi, A. ; Davis, Jack R. ; Webster, David ; Harris, Ann ; Lenoir, Gilbert ; De Basile, Genevieve St ; Jones, Alison ; Behloradsky, Bernd H. ; Achatz, Helene ; Murken, Jan ; Fassler, Reinhard ; Sumegi, Janos ; Romeo, Giovanni ; Vaudin, Mark ; Ross, Mark T. ; Meindl, Alfons ; Bentley, David R. / Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. In: Nature Genetics. 1998 ; Vol. 20, No. 2. pp. 129-135.
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