Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare life threatening congenital autoimmune disorder caused by mutations in the forkhead box protein 3 (FOXP3) gene. The main typical clinical manifestations of IPEX are enteropathy, type 1 diabetes mellitus, and sk...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2017-12-01
|
| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | http://journal.frontiersin.org/article/10.3389/fped.2017.00267/full |
| _version_ | 1828805617800708096 |
|---|---|
| author | Ting Ge Yizhong Wang Yanran Che Yongmei Xiao Ting Zhang |
| author_facet | Ting Ge Yizhong Wang Yanran Che Yongmei Xiao Ting Zhang |
| author_sort | Ting Ge |
| collection | DOAJ |
| description | Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare life threatening congenital autoimmune disorder caused by mutations in the forkhead box protein 3 (FOXP3) gene. The main typical clinical manifestations of IPEX are enteropathy, type 1 diabetes mellitus, and skin diseases, which usually appear in the first months of life and cause death without treatment. Here, we report a 6-year-old boy with late-onset IPEX syndrome due to a c.1190G>A (p. R397Q) mutation in exon 11 of the FOXP3 gene. The boy had intractable diarrhea, abdominal pain, recurrent infections, and failure to thrive. However, diabetes and skin diseases were not observed in the patient. The patient was received metronidazole, teicoplanin, fluconazole, mycamine, ceftriaxone, azithromycin, and fecal microbiota transplantation for treating infections, methylprednisolone and infliximab for suspicion of Crohn’s disease after admission. Finally, the boy was diagnosed as IPEX syndrome by genetic test and received hematopoietic stem cell transplantation (HSCT). Our findings suggests that IPEX should be considered in cases of late-onset, mild forms, and less typical clinical manifestations to avoid diagnostic delay. |
| first_indexed | 2024-12-12T07:58:02Z |
| format | Article |
| id | doaj.art-c42dc809e641471c9308fa1e0fd9f050 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-12T07:58:02Z |
| publishDate | 2017-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-c42dc809e641471c9308fa1e0fd9f0502022-12-22T00:32:15ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602017-12-01510.3389/fped.2017.00267328080Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case ReportTing Ge0Yizhong Wang1Yanran Che2Yongmei Xiao3Ting Zhang4Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Gastroenterology, Hepatology, and Nutrition, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai, ChinaImmune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare life threatening congenital autoimmune disorder caused by mutations in the forkhead box protein 3 (FOXP3) gene. The main typical clinical manifestations of IPEX are enteropathy, type 1 diabetes mellitus, and skin diseases, which usually appear in the first months of life and cause death without treatment. Here, we report a 6-year-old boy with late-onset IPEX syndrome due to a c.1190G>A (p. R397Q) mutation in exon 11 of the FOXP3 gene. The boy had intractable diarrhea, abdominal pain, recurrent infections, and failure to thrive. However, diabetes and skin diseases were not observed in the patient. The patient was received metronidazole, teicoplanin, fluconazole, mycamine, ceftriaxone, azithromycin, and fecal microbiota transplantation for treating infections, methylprednisolone and infliximab for suspicion of Crohn’s disease after admission. Finally, the boy was diagnosed as IPEX syndrome by genetic test and received hematopoietic stem cell transplantation (HSCT). Our findings suggests that IPEX should be considered in cases of late-onset, mild forms, and less typical clinical manifestations to avoid diagnostic delay.http://journal.frontiersin.org/article/10.3389/fped.2017.00267/fullimmune dysregulationpolyendocrinopathyenteropathyX-linkedforkhead box protein 3late-onset |
| spellingShingle | Ting Ge Yizhong Wang Yanran Che Yongmei Xiao Ting Zhang Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report Frontiers in Pediatrics immune dysregulation polyendocrinopathy enteropathy X-linked forkhead box protein 3 late-onset |
| title | Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report |
| title_full | Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report |
| title_fullStr | Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report |
| title_full_unstemmed | Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report |
| title_short | Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report |
| title_sort | atypical late onset immune dysregulation polyendocrinopathy enteropathy x linked syndrome with intractable diarrhea a case report |
| topic | immune dysregulation polyendocrinopathy enteropathy X-linked forkhead box protein 3 late-onset |
| url | http://journal.frontiersin.org/article/10.3389/fped.2017.00267/full |
| work_keys_str_mv | AT tingge atypicallateonsetimmunedysregulationpolyendocrinopathyenteropathyxlinkedsyndromewithintractablediarrheaacasereport AT yizhongwang atypicallateonsetimmunedysregulationpolyendocrinopathyenteropathyxlinkedsyndromewithintractablediarrheaacasereport AT yanranche atypicallateonsetimmunedysregulationpolyendocrinopathyenteropathyxlinkedsyndromewithintractablediarrheaacasereport AT yongmeixiao atypicallateonsetimmunedysregulationpolyendocrinopathyenteropathyxlinkedsyndromewithintractablediarrheaacasereport AT tingzhang atypicallateonsetimmunedysregulationpolyendocrinopathyenteropathyxlinkedsyndromewithintractablediarrheaacasereport |