Otoimmun lenfoproliferatif sendrom | stomatit

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