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Transient Effect of Anti-CD20 Therapy in a Child With 22q11.2 Deletion Syndrome and Severe Steroid Refractory Cytopenias: A Case Report

Soldatou, Alexandra MD, PhD*; Anastassiou, Theodora MD, PhD; Vougiouka, Olga MD, PhD*; Goussetis, Evgenios MD, PhD; Kossiva, Lydia MD, PhD*

Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e31828be602
Clinical and Laboratory Observations

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.

Author Information

*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:

Received October 17, 2011

Accepted August 29, 2012

© 2013 Lippincott Williams & Wilkins, Inc.