一名歌舞伎综合征患者的非典型自身免疫性血液系统疾病
Atypical Autoimmune Hematologic Disorders in a Patient With Kabuki Syndrome.
作者信息
Almécija Ara C, Pérez Vanesa, Baro María, Guerra-García Pilar, Vivanco Jose L
机构信息
Department of Pediatrics, Hematology and Oncology Unit, Doce de Octubre University Hospital, Madrid, Spain.
出版信息
J Pediatr Hematol Oncol. 2019 Mar;41(2):e114-e115. doi: 10.1097/MPH.0000000000001182.
Kabuki syndrome is a rare genetic disorder characterized by congenital anomalies and developmental delay. It is often associated with impaired immune response and autoimmune abnormalities. We report the clinical case of a girl with Kabuki syndrome who developed autoimmune neutropenia, not previously reported, followed by hemolytic anemia and autoimmune thrombocytopenia.
歌舞伎综合征是一种罕见的遗传性疾病，其特征为先天性异常和发育迟缓。它常与免疫反应受损和自身免疫异常相关。我们报告了一例患有歌舞伎综合征的女孩的临床病例，该女孩出现了此前未报道过的自身免疫性中性粒细胞减少症，随后又出现了溶血性贫血和自身免疫性血小板减少症。
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