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Intractable diarrhea in an infant-autoimmune enteropathy: A case report.

Shivangi TetarbeKasvi ShahIra Shah
Published in: JPGN reports (2023)
Autoimmune enteropathy is a rare cause of chronic intractable diarrhea and is present in <1 in 100,000 infants. We report the case of a 9-month-old boy who presented with intractable diarrhea and vomiting. Genetic panel testing revealed a STAT3 heterozygous mutation in exon 6, suggesting infantile-onset multisystem autoimmune disease-1. The patient was initially treated with steroids and sulfasalazine. However, on tapering steroids, he had another episode of diarrhea and was subsequently put on baricitinib to which he responded.
Keyphrases
  • irritable bowel syndrome
  • clostridium difficile
  • multiple sclerosis
  • drug induced
  • early onset
  • case report
  • cell proliferation
  • copy number