Presenter: Mounika
Bazar
Affiliation: Kanchi
Kamakoti Child's Trust Hospital, India
Presentation Type: Oral Presentation (Virtual)
🧬
Understanding the Disorder
Tripeptidyl peptidase II
(TPPII) deficiency is
a rare autosomal recessive primary immunodeficiency caused by mutations in the TPP2 gene. The condition leads to immune
dysregulation, recurrent infections, autoimmunity, developmental delay, and
very early-onset gastrointestinal disease that can resemble inflammatory bowel
disease (IBD). Early diagnosis is crucial, as curative treatment options like
hematopoietic stem cell transplantation (HSCT) may be considered.
🏥 Clinical Setting
This case was identified at a
tertiary pediatric center in South India. A detailed clinical workup—including
endoscopy, immunophenotyping, and whole exome sequencing (WES)—was undertaken
to evaluate severe neonatal gastrointestinal disease with systemic immune
involvement.
👶 The Case Presentation
A female neonate, born to
third-degree consanguineous parents, presented shortly after birth with:
·
Profuse
diarrhea 💧
·
Intestinal
perforation ⚠
·
Recurrent
sepsis 🦠
·
Failure
to thrive 📉
·
Developmental
delay
Endoscopy revealed ulcerative
colitis with chronic inflammation.
🔬 Immunologic & Genetic Findings
Immunologic testing showed reduced
naïve CD4⁺ and CD8⁺ T cells and decreased memory B cells, indicating
significant immune dysfunction.
Whole exome sequencing confirmed a
homozygous mutation in the TPP2
gene (c.3392C>T; p.Ser1131Phe). Both parents were identified as heterozygous
carriers.
💊 Management & Future Plan
The patient received:
·
Nutritional
rehabilitation
·
Corticosteroids
·
Sirolimus
·
Prophylactic
antimicrobials
Hematopoietic stem cell
transplantation (HSCT) was discussed as a definitive treatment option.
🌟 Key Takeaway
TPPII deficiency, though rare, should
be suspected in neonates presenting with severe, atypical enteropathy and
systemic immune dysregulation. Early immunologic workup and genetic
confirmation are essential to guide targeted therapy and timely referral for
HSCT.
👩⚕️ About the Speaker
Dr. Mounika Bazar, from
India, has completed advanced training in Pediatric Gastroenterology,
Hepatology, and Nutrition and is actively engaged in clinical practice and
academic work. She has presented her research at national and international
conferences and contributes to academic writing and clinical research. Her work
reflects a commitment to academic excellence, with an evolving focus on
healthcare systems, quality improvement, and medical education.
🌍 Join the Global Conversation
Event:
International Conference on Pediatrics, Neonatology & Child Health
📅 March
26–28, 2026
📍 Singapore
& Online
🔗 Website: https://pediatrics.miconferences.com/
🔗 Register: https://pediatrics.miconferences.com/register
🔗 Abstract
Submission: https://pediatrics.miconferences.com/abstract-submission
📞 Phone: +1 (312) 462-4448
💬 WhatsApp: +1 (424) 377-0967
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