22q11.2缺失综合征中的自身免疫性血细胞减少症。

Autoimmune cytopenias in the 22q11.2 deletion syndrome.

作者信息

Davies J K, Telfer P, Cavenagh J D, Foot N, Neat M

机构信息

Department of Haematology, Barts and the London Trust, London, UK.

出版信息

Clin Lab Haematol. 2003 Jun;25(3):195-7. doi: 10.1046/j.1365-2257.2003.00508.x.

DOI:10.1046/j.1365-2257.2003.00508.x

PMID:12755799

Abstract

We describe two cases of recurrent autoimmune cytopenias, which were subsequently diagnosed with a 22q11.2 deletion/DiGeorge syndrome. The cases are of particular interest as both possessed limited clinical features of this syndrome, and the investigation of haematological abnormalities led to the establishment of a definitive genetic diagnosis.

摘要

我们描述了两例复发性自身免疫性血细胞减少症病例，随后诊断为22q11.2缺失/迪乔治综合征。这两个病例特别引人关注，因为它们都具有该综合征有限的临床特征，并且对血液学异常的调查导致了明确的基因诊断的建立。