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首页> 外文期刊>Clinical immunology: The official journal of the Clinical Immunology Society >Fetal-onset IPEX: Report of two families and review of literature
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Fetal-onset IPEX: Report of two families and review of literature

机译：胎儿期IPEX：两个家族的报告和文献复习

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摘要

Early-life autoimmunity is an IPEX characteristic, however intrauterine forms had not yet been described. Here, two unrelated families with clear evidence of fetal-onset IPEX are reported. One had 5 miscarriages of males in two generations, and a newborn presenting type-1 diabetes mellitus immediately after birth, diarrhea, thrombocytopenia, eczematous dermatitis, eosinophilia, high IgE levels and autoantibodies to pancreatic islet antigens at 4-days-old. Maternal serology was negative. He presented a FOXP3 mutation, c.1189C>T, p.Arg397Trp, previously described only in another family with IPEX at birth. The second family had several miscarriages of males in three consecutive generations and a novel FOXP3 c.319_320delTC mutation was observed in two miscarried monochorionic twin male fetuses. These twins died at 21 weeks of gestation due to hydrops, and CD3+ infiltrating lymphocytes were found in their pancreas. We demonstrate that: i) IPEX may develop in fetal life; and ii) c.1189C>T and c.319_320delTC mutations are associated with early-onset phenotype. (C) 2014 Elsevier Inc. All rights reserved.
机译：生命早期的自身免疫是IPEX的特征，但是尚未描述子宫内形式。在此，报告了两个无亲属的家族，它们有明显的胎儿期IPEX证据。其中一名在两代中有5名男性流产，一名刚出生的婴儿在出生后四天大时表现出腹泻，血小板减少，湿疹性皮炎，嗜酸性粒细胞增多，IgE水平高和自身抗体的出生后表现为1型糖尿病。孕妇血清学检查为阴性。他提出了FOXP3突变，即c.1189C> T，p.Arg397Trp，以前仅在出生时患有IPEX的另一个家庭中描述过。第二个家庭连续三个世代都有几次流产，并且在两个流产的单绒毛膜双胞胎男性胎儿中观察到新的FOXP3 c.319_320delTC突变。这些双胞胎在妊娠21周时因积水而死亡，并且在其胰腺中发现了CD3 +浸润淋巴细胞。我们证明：i）IPEX可能在胎儿生命中发展; ii）c.1189C> T和c.319_320delTC突变与早期发作表型有关。 （C）2014 Elsevier Inc.保留所有权利。

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