Fetal-onset IPEX: Report of two families and review of literature

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Xavier-da-Silva, Mariana Moraes
Moreira-Filho, Carlos A.
Suzuki, Edson
Patricio, Francy [UNIFESP]
Coutinho, Antonio
Carneiro-Sampaio, Magda
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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.
Clinical Immunology. San Diego: Academic Press Inc Elsevier Science, v. 156, n. 2, p. 131-140, 2015.