Recurrent Non Immune Fetal Hydrops Associated With IPEX Syndrome
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) is a clinical syndrome associated with mutations in FOXP3 and consequent abnormalities of T regulatory cells. Affected males typically die in infancy or early childhood from a variety of autoimmune conditions. Reports of recurren...
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| Published in: | Pediatric and developmental pathology Vol. 22; no. 5; pp. 465 - 471 |
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| Format: | Journal Article |
| Language: | English |
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| Abstract | Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) is a
clinical syndrome associated with mutations in FOXP3 and consequent
abnormalities of T regulatory cells. Affected males typically die in infancy or
early childhood from a variety of autoimmune conditions. Reports of recurrent
pregnancy loss of male fetuses in these families have been accompanied by
descriptions of nonimmune fetal hydrops, with or without additional fetal
anomalies. Here, we report an additional family affected by IPEX with a novel
mutation leading to recurrent second trimester fetal hydrops and intrauterine
fetal demise with associated fetal anomalies. This report underscores how
careful genetic and pathologic analysis of even midtrimester fetuses can provide
important information impacting an entire family. It also further substantiates
the use of broad, symptom-targeted genetic screening panels in cases of
recurrent pregnancy loss even in the absence of a remarkable pedigree. |
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| AbstractList | Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) is a clinical syndrome associated with mutations in FOXP3 and consequent abnormalities of T regulatory cells. Affected males typically die in infancy or early childhood from a variety of autoimmune conditions. Reports of recurrent pregnancy loss of male fetuses in these families have been accompanied by descriptions of nonimmune fetal hydrops, with or without additional fetal anomalies. Here, we report an additional family affected by IPEX with a novel mutation leading to recurrent second trimester fetal hydrops and intrauterine fetal demise with associated fetal anomalies. This report underscores how careful genetic and pathologic analysis of even midtrimester fetuses can provide important information impacting an entire family. It also further substantiates the use of broad, symptom-targeted genetic screening panels in cases of recurrent pregnancy loss even in the absence of a remarkable pedigree. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) is a clinical syndrome associated with mutations in FOXP3 and consequent abnormalities of T regulatory cells. Affected males typically die in infancy or early childhood from a variety of autoimmune conditions. Reports of recurrent pregnancy loss of male fetuses in these families have been accompanied by descriptions of nonimmune fetal hydrops, with or without additional fetal anomalies. Here, we report an additional family affected by IPEX with a novel mutation leading to recurrent second trimester fetal hydrops and intrauterine fetal demise with associated fetal anomalies. This report underscores how careful genetic and pathologic analysis of even midtrimester fetuses can provide important information impacting an entire family. It also further substantiates the use of broad, symptom-targeted genetic screening panels in cases of recurrent pregnancy loss even in the absence of a remarkable pedigree. |
| Author | Ouyang, David W Ernst, Linda M Shanes, Elisheva Propst, Lauren |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/30813833$$D View this record in MEDLINE/PubMed |
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| CitedBy_id | crossref_primary_10_1080_21678707_2020_1719827 crossref_primary_10_1186_s12920_021_00901_6 crossref_primary_10_3389_fped_2020_599283 crossref_primary_10_1002_ccr3_4900 crossref_primary_10_1016_j_jaip_2020_04_070 crossref_primary_10_1002_pd_6531 crossref_primary_10_3389_fped_2021_643094 crossref_primary_10_3389_fped_2021_669298 |
| Cites_doi | 10.1002/ajmg.a.38144 10.1016/j.clim.2015.09.006 10.1016/S0140-6736(15)60773-5 10.1038/83713 10.1182/blood-2009-04-214593 10.1046/j.1365-2249.2002.01940.x 10.1002/pd.5142 10.1038/83707 10.1016/j.clim.2014.12.007 10.1016/S0022-3476(82)80573-8 10.1002/ajmg.a.37401 |
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| Keywords | regulatory T cells FOXP3 polyendocrinopathy fetal hydrops hemolytic anemia |
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| References | Tommasini, Ferrari, Moratto 2002; 130 Wildin, Ramsdell, Peake 2001; 27 Xavier-da-Silva, Moreira-Filho, Suzuki, Patricio, Coutinho, Carneiro-Sampaio 2015; 156 Reichert, McKay, Moldenhauer 2016; 170A Powell, Buist, Stenzel 1982; 100 Rae, Gao, Bunyan 2015; 161 Vasiljevic, Poreau, Raymonde 2015; 385 Shehab, Tester, Ackerman, Cowchock, Ackerman 2017; 37 Bennett, Christie, Ramsdell 2001; 27 Di Nunzio, Cecconi, Passerini 2009; 114 Louie, Tan, Gilner 2017; 173 bibr7-1093526619834809 bibr1-1093526619834809 bibr12-1093526619834809 bibr2-1093526619834809 bibr6-1093526619834809 bibr11-1093526619834809 bibr9-1093526619834809 bibr8-1093526619834809 bibr4-1093526619834809 bibr5-1093526619834809 bibr10-1093526619834809 bibr3-1093526619834809 |
| References_xml | – volume: 100 start-page: 731 issue: 5 year: 1982 end-page: 737 article-title: An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy publication-title: J Pediatr contributor: fullname: Stenzel – volume: 161 start-page: 284 issue: 2 year: 2015 end-page: 285 article-title: A novel FOXP3 mutation causing fetal akinesia and recurrent male miscarriages publication-title: Clin Immunol contributor: fullname: Bunyan – volume: 27 start-page: 18 issue: 1 year: 2001 end-page: 20 article-title: X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy publication-title: Nat Genet contributor: fullname: Peake – volume: 170A start-page: 226 issue: 1 year: 2016 end-page: 232 article-title: Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops–Expanding the phenotype of IPEX syndrome publication-title: Am J Med Genet A contributor: fullname: Moldenhauer – volume: 385 start-page: 2120 year: 2015 article-title: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and recurrent intrauterine fetal death publication-title: Lancet contributor: fullname: Raymonde – volume: 37 start-page: 1040 year: 2017 end-page: 1045 article-title: Whole genome sequencing identifies etiology of recurrent male intrauterine fetal death publication-title: Prenat Diag contributor: fullname: Ackerman – volume: 130 start-page: 127 issue: 1 year: 2002 end-page: 130 article-title: X-chromosome inactivation analysis in a female carrier of FOXP3 mutation publication-title: Clin Exp Immunol contributor: fullname: Moratto – volume: 114 start-page: 4138 issue: 19 year: 2009 end-page: 4141 article-title: Wild-type FOXP3 is selectively active in CD4+CD25(hi) regulatory T cells of healthy female carriers of different FOXP3 mutations publication-title: Blood contributor: fullname: Passerini – volume: 173 start-page: 1219 issue: 5 year: 2017 end-page: 1225 article-title: Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound publication-title: Am J Med Genet A contributor: fullname: Gilner – volume: 27 start-page: 20 issue: 1 year: 2001 end-page: 21 article-title: The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 publication-title: Nat Genet contributor: fullname: Ramsdell – volume: 156 start-page: 131 issue: 2 year: 2015 end-page: 140 article-title: Fetal-onset IPEX: report of two families and review of literature publication-title: Clin Immunol contributor: fullname: Carneiro-Sampaio – ident: bibr5-1093526619834809 doi: 10.1002/ajmg.a.38144 – ident: bibr6-1093526619834809 doi: 10.1016/j.clim.2015.09.006 – ident: bibr8-1093526619834809 doi: 10.1016/S0140-6736(15)60773-5 – ident: bibr2-1093526619834809 doi: 10.1038/83713 – ident: bibr12-1093526619834809 doi: 10.1182/blood-2009-04-214593 – ident: bibr11-1093526619834809 doi: 10.1046/j.1365-2249.2002.01940.x – ident: bibr9-1093526619834809 doi: 10.1002/pd.5142 – ident: bibr3-1093526619834809 doi: 10.1038/83707 – ident: bibr4-1093526619834809 doi: 10.1016/j.clim.2014.12.007 – ident: bibr1-1093526619834809 doi: 10.1016/S0022-3476(82)80573-8 – ident: bibr7-1093526619834809 doi: 10.1002/ajmg.a.37401 – ident: bibr10-1093526619834809 |
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clinical syndrome associated with mutations in FOXP3 and consequent
abnormalities... Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) is a clinical syndrome associated with mutations in FOXP3 and consequent abnormalities... |
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| SubjectTerms | Adult Diabetes Mellitus, Type 1 - complications Diabetes Mellitus, Type 1 - congenital Diabetes Mellitus, Type 1 - genetics Diarrhea - complications Diarrhea - genetics Female Fetus Forkhead Transcription Factors - genetics Genetic Diseases, X-Linked - complications Genetic Diseases, X-Linked - genetics Humans Hydrops Fetalis - etiology Immune System Diseases - complications Immune System Diseases - congenital Immune System Diseases - genetics Male Mutation Pedigree Pregnancy Pregnancy Complications - etiology |
| Title | Recurrent Non Immune Fetal Hydrops Associated With IPEX Syndrome |
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