Abstract
Patients with juvenile myelomonocytic leukemia due to germline CBL mutation (10% to 15%) may have a subacute course occasionally associated with autoimmune disorders, which may resemble RAS-associated autoimmune lymphoproliferative disorder. In both conditions, prognosis and standard treatment for autoimmune phenomena remain poorly understood. We report the case of a 7-year-old boy with juvenile myelomonocytic leukemia with severe steroid-dependent uveitis, who did not respond to several therapeutic attempts with immunosuppressant agents, including sirolimus, and was finally successfully treated with adalimumab. This case offers further insight into the management of autoimmune disorders in the context of predisposing genetic conditions.
References
Aug 15, 1984·Cancer·H Castro-MalaspinaJ Bernard
Dec 28, 1999·Leukemia & Lymphoma·D WützC M Niemeyer
Sep 9, 2004·Blood·Franco LocatelliUNKNOWN European Blood and Marrow Transplantation Group
Nov 2, 2005·Pediatric Blood & Cancer·Jennifer O LauchleKevin Shannon
Mar 3, 2007·Blood·Kazuyuki MatsudaKenichi Koike
Nov 21, 2007·Haematologica·Christian FlothoCharlotte M Niemeyer
Jul 3, 2009·Blood·Mignon L LohCharlotte M Niemeyer
Jun 15, 2010·Journal of Medical Genetics·B PérezH Cavé
Aug 10, 2010·Nature Genetics·Charlotte M NiemeyerMignon L Loh
Jan 25, 2014·American Journal of Medical Genetics. Part a·Helen L HansonSahar Mansour
Mar 5, 2014·Pediatric Blood & Cancer·Michael MaschanAlexei Maschan
Oct 7, 2014·Pediatric Blood & Cancer·Nobuyuki HyakunaSeiji Kojima
Feb 19, 2015·Blood·Katherine R CalvoV Koneti Rao
Mar 17, 2015·Translational Vision Science & Technology·Mohamed A IbrahimQuan Dong Nguyen
Apr 22, 2015·Journal of Clinical Immunology·Mitsutaka ShiotaHirokazu Kanegane
May 6, 2015·Human Genetics·Anand PathakDouglas R Stewart
Feb 26, 2016·Journal of Human Genetics·Michiko MuraokaAkira Shimada
Mar 5, 2016·Pediatrics·Hiroshi MoritakeHiroyuki Nunoi
Jan 4, 2017·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Robert J RagotteStuart E Turvey
Apr 18, 2017·European Journal of Medical Genetics·Rachel R CoeClara D M van Karnebeek
May 14, 2017·Clinical and Experimental Immunology·S Levy-MendelovichR Somech
Jun 17, 2018·Clinical and Experimental Dermatology·A GiacamanA Martín-Santiago
Aug 7, 2018·Journal of Pediatric Hematology/oncology·Hidemi ToyodaMasahiro Hirayama