Otoimmun lenfoproliferatif sendrom

Kalıtsal - AD

Kronik/yineleyen lenfadenopatiler

Lenf düğümlerinde reaktif hiperplazi

Splenomegali

Hepatomegali

Lenfositik interstisiyel pnömoni

Otoimmun pansitopeni: otoimmun hemolitik anemi, immun trombositopeni, immun nötropeni

Otoimmun hepatit

Otoimmun glomerülonefrit

Otoimmun tiroidit

Lenfomalar

Multipl neoplastik lezyonlar (tiroid/meme adenomları, gliomalar)

Yineleyen aftlı stomatitler

Deri döküntüleri

Kaşıntı

 

  • Straus SE, Jaffe ES, Puck JM, et al. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood, 98: 194-200, 2001

  • Bleesing JJ. Autoimmune lymphoproliferative syndrome (ALPS). Current Pharmaceutical Design, 9:265–278, 2003

  • Teachey DT, Seif AE, Grupp SA. Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). British Journal of Haematology, 148: 205-216, 2009

  • Dowdell KC, Niemela JE, Price S, et al. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood, 115: 5164-5169, 2010

  • Kuehn HS, Caminha I, Niemela JE, et al. FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. Journal of Immunology, 186:6035–6043, 2011