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.