TY - JOUR AB - <p>Emberger syndrome, or primary lymphedema with myelodysplasia, is a severe rare disease characterized by early primary lymphedema and blood anomalies including acute childhood leukemia. The syndrome is associated with heterozygous mutations in the GATA2 gene. We report on a 13-year-old boy who developed lymphedema of the right lower limb at age 6 years which was accompanied by severe panleukopenia and repeated episodes of erysipelas. The suspicion of Emberger syndrome was confirmed by detection of a new germinal line GATA2 mutation c.414_417del, p.Ser139Cysfs*78. Clinical treatment included a bone marrow transplant from the father. This case is one of a very limited number of Emberger syndrome cases documented in the literature, and genetic testing proved fundamental for definition of the condition and its association with a de novo mutation in the GATA2 which is reported here for the first time.</p> AU - S Michelini, M Cardone, M Haag O Agga, A Bruson, PE Maltese, A Bonizzato, M Bertelli DA - 2016/1// IS - 1 VL - 49 PB - International Society of Lymphology and the University of Arizona Libraries PY - 2016 TI - A RARE CASE OF EMBERGER SYNDROME CAUSED BY A DE NOVO MUTATION IN THE GATA2 GENE T2 - Lymphology UR - http://journals.librarypublishing.arizona.edu/lymph/article/id/3818/ ER -