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Cited by 47 publications
(72 citation statements)
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References 81 publications
(3 reference statements)
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“…The pivotal role of FOXP3 in maintaining Tregs is noted by mutations in the FOXP3 gene, resulting in the scurfy mouse and in the IPEX syndrome ((Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) in humans [19]. The mice die from over-whelming inflammation and multi-organ autoimmunity within weeks, while humans may manifest disease as early as the fetal and neonatal period [20], and often die within the first 1e2 years of life unless reconstituted with a bone marrow transplant.…”
Section: Treg Overview and Role In Dmmentioning
confidence: 99%
“…The pivotal role of FOXP3 in maintaining Tregs is noted by mutations in the FOXP3 gene, resulting in the scurfy mouse and in the IPEX syndrome ((Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) in humans [19]. The mice die from over-whelming inflammation and multi-organ autoimmunity within weeks, while humans may manifest disease as early as the fetal and neonatal period [20], and often die within the first 1e2 years of life unless reconstituted with a bone marrow transplant.…”
Section: Treg Overview and Role In Dmmentioning
confidence: 99%
“…Carneiro-Sampaio and colleagues describe two families with fetal-onset IPEX and proband males presenting with symptoms of classical IPEX syndrome [7]. Most IPEX cases previously reported have uneventful gestations and are born at birth without incident, but a detailed family history may reveal miscarriages in previous generations [4].We present a case of a mother with a novel FOXP3 mutation and recurrent male miscarriages with no male [8].…”
Section: To the Editormentioning
confidence: 86%
“…However, in some cases, the symptoms presented within days or weeks of delivery with early clinical manifestations, including intractable diarrhea, type 1 diabetes mellitus, and eczema . Approximately 45% of cases in the literature presented in the neonatal period, and the age of onset was specifically identified as having manifestations at birth or within the first day of life in 11 cases …”
Section: Discussionmentioning
confidence: 99%