伊文思综合征与抗体缺陷：22q11.2染色体缺失综合征的一种非典型表现。
Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome.
作者信息
Colarusso Gloria, Gambineri Eleonora, Lapi Elisabetta, Casini Tommaso, Tucci Fabio, Lippi Francesca, Azzari Chiara
机构信息
Paediatric Immunology Unit.
出版信息
Pediatr Rep. 2010 Sep 6;2(2):e13. doi: 10.4081/pr.2010.e13.
Abstract
We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS) was diagnosed. No other clinical sign of 22q11.2 DS was present with the exception of slight facial dysmorphism. The case is of particular interest because it suggests the need to research chromosome 22q11.2 deletion in patients who present with autoimmune cytopenia and peculiar facial abnormalities, which could be an atypical presentation of an incomplete form of 22q11.2 DS.
摘要
我们报告了一例8岁男性患者，患有伊文氏综合征和严重低丙种球蛋白血症，随后被诊断出患有22q11.2缺失综合征（22q11.2 DS）。除了轻微的面部畸形外，未出现22q11.2 DS的其他临床体征。该病例特别值得关注，因为它表明对于出现自身免疫性血细胞减少和特殊面部异常的患者，有必要研究22号染色体q11.2缺失情况，这可能是不完全形式的22q11.2 DS的非典型表现。
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