Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant (original) (raw)

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Acknowledgements

We thank A. Cao for suggestions and P. Frongia, P. Pusceddu, M. Chessa and R. Riccardi for recruiting affected individuals and collecting blood samples. This work was supported by a fellowship from the Norwegian Cancer Society (to T.V.) and by grants from the Juvenile Diabetes Research Foundation (to N.B.), Telethon-JDRF (to F.C.) and the US National Institutes of Health (to T.M).

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Authors and Affiliations

  1. Program on Inflammatory Disease Research, Infectious and Inflammatory Disease Center, The Burnham Institute, 10901 North Torrey Pines Road, La Jolla, 92037, California, USA
    Torkel Vang, Lucia Musumeci, Konstantina Nika, Lutz Tautz, Tomas Mustelin & Nunzio Bottini
  2. Dipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, Ospedale Microcitemico, Cagliari, 09121, Italy
    Mauro Congia, Maria Doloretta Macis, Valeria Orrú, Patrizia Zavattari & Francesco Cucca
  3. Department of Orthopaedic Surgery and Institute for Genetic Medicine, University of Southern California Keck School of Medicine, Los Angeles, 90033, California, USA
    Valeria Orrú & Nunzio Bottini
  4. The Biotechnology Centre, University of Oslo, Box 1125, Blindern, Oslo, N-0317, Norway
    Kjetil Taskén
  5. Dipartimento di Scienze Biomediche, Cattedra di Genetica Medica, Università degli Studi di Sassari, 07100, Sassari, Italy
    Francesco Cucca

Authors

  1. Torkel Vang
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  2. Mauro Congia
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  3. Maria Doloretta Macis
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  4. Lucia Musumeci
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  5. Valeria Orrú
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  6. Patrizia Zavattari
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  7. Konstantina Nika
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  8. Lutz Tautz
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  9. Kjetil Taskén
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  10. Francesco Cucca
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  11. Tomas Mustelin
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  12. Nunzio Bottini
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Corresponding author

Correspondence toNunzio Bottini.

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The authors declare no competing financial interests.

Supplementary information

Supplementary Fig. 1

Analysis of T cell lineages and subpopulations in T1D children of RW or RR genotype. (PDF 151 kb)

Supplementary Fig. 2

The disease-associated LYP*W620 is a more potent inhibitor of early TCR signaling. (PDF 111 kb)

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Vang, T., Congia, M., Macis, M. et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.Nat Genet 37, 1317–1319 (2005). https://doi.org/10.1038/ng1673

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