PDF(Pubmed)
Abstract：
Heterozygous germline variants in human IKZF1 encoding for IKAROS define an inborn error of immunity with immunodeficiency, immune dysregulation and risk of malignancy with a broad phenotypic spectrum. Growing evidence of underlying pathophysiological genotype-phenotype correlations helps to improve our understanding of IKAROS-associated diseases. We describe 6 patients from 4 kindreds with two novel IKZF1 variants leading to haploinsufficiency from 3 centers in Germany. We also provide an overview of first symptoms to a final diagnosis including data from the literature.
摘要：
人类IKZF1中编码IKAROS的杂合种系变体定义了免疫缺陷的先天性免疫错误，免疫失调和具有广泛表型谱的恶性肿瘤风险。越来越多的潜在病理生理基因型-表型相关性的证据有助于提高我们对IKAROS相关疾病的理解。我们描述了来自德国3个中心的4个家族的6名患者，这些患者具有两个新颖的IKZF1变体，导致单倍体功能不全。我们还提供了最初症状到最终诊断的概述，包括文献数据。
