Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation.

@article{MartnezFeito2016AutoimmuneLS,
  title={Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation.},
  author={Ana Mart{\'i}nez-Feito and Josefa Melero and Sergio Mora-D{\'i}az and Carmen Rodr{\'i}guez-Vigil and Ram{\'o}n Elduayen and Luis Ignacio Gonzalez-Granado and Dolores P{\'e}rez-M{\'e}ndez and Elena S{\'a}nchez-Zapardiel and Raquel Ruiz-Garc{\'i}a and Miguela Mench{\'e}n and Josefa D{\'i}az-Madro{\~n}ero and Estela Paz-Artal and Rafael Del Orbe-Barreto and Marta Ri{\~n}{\'o}n and Luis M Allende},
  journal={Immunobiology},
  year={2016},
  volume={221 1},
  pages={40-7}
}
Autoimmune lymphoproliferative syndrome (ALPS) is a primary immunodeficiency caused by impaired Fas/FasL-mediated apoptosis of lymphocytes and is characterized by chronic nonmalignant or benign lymphoproliferation, autoimmune manifestations and expansion of double negative (DN) T-cells (TCRαβ+CD4-CD8-). Most cases of ALPS are associated with germline (ALPS-FAS) or somatic (ALPS-sFAS) heterozygous FAS mutations or a combination of both. Here we report three unrelated patients with ALPS-sFAS… CONTINUE READING