We report on the development of steroid-refractory recurrent cytopenias in a child with 22q11.2 deletion syndrome. His first hematological complication was autoimmune hemolytic anemia at 3 months of age. Thereafter, he developed severe autoimmune cytopenias of all 3 hematological lineages with poor response to steroids and intravenous immunoglobulin. At the age of 2½ years, a course of anti-CD20 therapy (Rituximab) was given with transient hematological recovery. Because of persistent symptoms, bone marrow transplantation from a matched unrelated donor was performed. Although the data in the use of anti-CD20 therapy in children with 22q11.2 deletion syndrome and autoimmune cytopenias are limited, our experience suggests its potential benefit.
*Second Department of Pediatrics, “P. & A. Kyriakou” Children’s Hospital, University of Athens Medical School
†Hematological Laboratory, “P. & A. Kyriakou” Children’s Hospital
‡Stem Cell Transplant Unit, Aghia Sophia Children’s Hospital, Athens, Greece
The authors declare no conflict of interest.
Reprints: Alexandra Soldatou, MD, PhD, Second Department of Pediatrics, “P. & A. Kyriakou” Children’s Hospital, University of Athens Medical School, Thivon & Levadias Str., 11527 Athens, Greece (e-mail: email@example.com).
Received October 17, 2011
Accepted August 29, 2012