Variations of the UNC13D Gene in Patients with Autoimmune Lymphoproliferative Syndrome

@inproceedings{Aric2013VariationsOT,
  title={Variations of the UNC13D Gene in Patients with Autoimmune Lymphoproliferative Syndrome},
  author={M. Rita Aric{\`o} and Elena Boggio and Valentina Cetica and Matteo Melensi and Elisabetta Orilieri and Nausicaa Clemente and Giuseppe Cappellano and Sara Buttini and Maria Felicia Soluri and Cristoforo Comi and Carlo Dufour and Daniela Pende and Irma Dianzani and Steven Robert Ellis and Sara Pagliano and Stefania Marcenaro and Ugo Ramenghi and Annalisa Chiocchetti and Umberto Dianzani},
  booktitle={PloS one},
  year={2013}
}
Autoimmune lymphoproliferative syndrome (ALPS) is caused by genetic defects decreasing Fas function and is characterized by lymphadenopathy/splenomegaly and expansion of CD4/CD8 double-negative T cells. This latter expansion is absent in the ALPS variant named Dianzani Autoimmune/lymphoproliferative Disease (DALD). In addition to the causative mutations, the genetic background influences ALPS and DALD development. We previously suggested a disease-modifying role for the perforin gene involved… CONTINUE READING
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Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis

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