PMID- 36479284
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20221210
IS  - 2296-2360 (Print)
IS  - 2296-2360 (Electronic)
IS  - 2296-2360 (Linking)
VI  - 10
DP  - 2022
TI  - Case Report: Eosinophilic gastritis with pyloric stenosis in immune 
      dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
PG  - 1039341
LID - 10.3389/fped.2022.1039341 [doi]
LID - 1039341
AB  - Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome 
      is a rare X-linked recessive immunodeficiency caused by mutations in the forkhead 
      box protein 3 (FOXP3) gene. IPEX is characterized by the onset of intractable 
      diarrhea, type 1 diabetes mellitus (T1DM), and eczema in the early stages of 
      life. The typical clinic triad for IPEX is not always seen. Here, we report a 
      15-year-old male patient with atypical IPEX syndrome complicated with severe 
      eosinophilic gastritis (EG) and pyloric stenosis. The patient had noticeable 
      eczema during the first year of life and had a history of food allergies. At the 
      age of 3 years, the patient was diagnosed with EG, Helicobacter pylori (HP) 
      infection, pyloric stenosis with recurrent vomiting, and failure to thrive. The 
      patient did not respond to long-term symptomatic treatments in the following 
      years, including methylprednisolone, proton pump inhibitors (PPI), L-glutamine 
      and sodium gualenate granules, anti-HP therapy, and balloon dilation. At the age 
      of 12 years, the patient received surgical interventions, including a 
      laparoscopic jejunostomy feeding tube placement, gastrojejunal anastomosis 
      bypass, and jejunal-jejunal end-to-side anastomosis. Intractable diarrhea and 
      T1DM were not present in the patient. At the age of 14 years, the patient was 
      diagnosed with IPEX syndrome due to a c.748-750del (p.Lys250del) mutation in the 
      leucine zipper domain of the FOXP3 protein. The patient underwent matched sibling 
      peripheral blood hematopoietic stem cell transplantation (HSCT) and showed good 
      evolution after 3 months of HSCT. In summary, this case report provides 
      information of unusual gastrointestinal findings in IPEX syndrome and highlights 
      the need for increased awareness and early diagnosis of IPEX syndrome, which is 
      vital for improving the patient's outcome.
CI  - (c) 2022 Yu, Xiao, Xu, Zhang, Wang and Hu.
FAU - Yu, Ronghua
AU  - Yu R
AD  - Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's 
      Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
FAU - Xiao, Yongmei
AU  - Xiao Y
AD  - Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's 
      Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
FAU - Xu, Wuhen
AU  - Xu W
AD  - Molecular Diagnostic Laboratory, Shanghai Children's Hospital, School of 
      Medicine, Shanghai Jiao Tong University, Shanghai, China.
FAU - Zhang, Ting
AU  - Zhang T
AD  - Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's 
      Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
AD  - Gut Microbiota and Metabolic Research Center, Institute of Pediatric Infection, 
      Immunity and Critical Care Medicine, School of Medicine, Shanghai Jiao Tong 
      University, Shanghai, China.
FAU - Wang, Yizhong
AU  - Wang Y
AD  - Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's 
      Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
AD  - Gut Microbiota and Metabolic Research Center, Institute of Pediatric Infection, 
      Immunity and Critical Care Medicine, School of Medicine, Shanghai Jiao Tong 
      University, Shanghai, China.
FAU - Hu, Hui
AU  - Hu H
AD  - Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's 
      Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
LA  - eng
PT  - Case Reports
DEP - 20221121
PL  - Switzerland
TA  - Front Pediatr
JT  - Frontiers in pediatrics
JID - 101615492
PMC - PMC9720107
OTO - NOTNLM
OT  - FOXP3
OT  - HSCT
OT  - IPEX
OT  - eosinophilic gastritis
OT  - pyloric stenosis
COIS- The authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2022/12/09 06:00
MHDA- 2022/12/09 06:01
PMCR- 2022/11/21
CRDT- 2022/12/08 14:02
PHST- 2022/09/08 00:00 [received]
PHST- 2022/10/25 00:00 [accepted]
PHST- 2022/12/08 14:02 [entrez]
PHST- 2022/12/09 06:00 [pubmed]
PHST- 2022/12/09 06:01 [medline]
PHST- 2022/11/21 00:00 [pmc-release]
AID - 10.3389/fped.2022.1039341 [doi]
PST - epublish
SO  - Front Pediatr. 2022 Nov 21;10:1039341. doi: 10.3389/fped.2022.1039341. 
      eCollection 2022.