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

Area of Science:

• Pediatric Gastroenterology
• Immunology
• Genetics

Background:

• Autoimmune enteropathy is a rare condition causing chronic intractable diarrhea in infants, affecting fewer than 1 in 100,000 live births.
• Early diagnosis and appropriate management are crucial for improving outcomes in affected infants.

Observation:

• A 9-month-old boy presented with severe, intractable diarrhea and vomiting, indicative of a potential autoimmune gastrointestinal disorder.
• Genetic testing identified a heterozygous mutation in STAT3 (Signal Transducer and Activator of Transcription 3) in exon 6, consistent with a diagnosis of infantile-onset multisystem autoimmune disease-1.

Findings:

• Initial treatment with corticosteroids and sulfasalazine provided partial relief but was insufficient for long-term management.
• Upon tapering corticosteroids, the patient experienced a relapse of symptoms, necessitating a change in therapeutic strategy.
• Introduction of baricitinib, a Janus kinase (JAK) inhibitor, led to a significant clinical response and resolution of diarrhea and vomiting.

Implications:

• This case highlights baricitinib as a potential therapeutic option for autoimmune enteropathy associated with STAT3 mutations.
• Targeted therapies like JAK inhibitors may offer a more effective and sustainable treatment approach for specific genetic subtypes of autoimmune enteropathy.
• Further research into the efficacy and safety of baricitinib in pediatric autoimmune enteropathy is warranted to establish its role in clinical practice.