2020-11-20
2020-11-20 • Magda Carneiro‐Sampaio, Carlos Alberto Moreira‐Filho, Sílvia Yumi Bando, Jocelyne Demengeot, António Coutinho
IPEX is one of the few Inborn Errors of Immunity that may manifest in the fetal period, and its intrauterine forms certainly represent the earliest human autoimmune diseases. Here, we review the clinical, histopathologic, and genetic findings from 21 individuals in 11 unrelated families, with nine different mutations, described as cases of intrauterine IPEX. Recurrent male fetal death (multigenerational in five families) due to hydrops in the midsemester of pregnancy was the commonest presentation (13/21). Notewor…