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Updated: May 7, 2026
05:26
Examination of Oral Candida Infection in Primary Sjögren's Syndrome Patients
Published on: March 1, 2024
Recurrent oral thrush
Somu Sivabalan1, Shriraam Mahadevan, M V Srinath
1Department of Pediatric Pulmonology, Sundaram Medical Foundation, Dr Rangarajan Memorial Hospital, Shanthi Colony, IV Avenue, Annanagar, Chennai, 600 040, Tamil Nadu, India, sivabalan.somu@gmail.com.
Indian Journal of Pediatrics
|October 2, 2013
Summary
Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1) can manifest with chronic mucocutaneous candidiasis and hypoparathyroidism. Genetic analysis confirmed AIRE gene mutations in a child and fetus, leading to pregnancy termination.
Area of Science:
- Endocrinology
- Genetics
- Immunology
Background:
- Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1) is an autoimmune disorder.
- APS1 is defined by at least two of three key features: chronic mucocutaneous candidiasis (CMC), Addison's disease, and hypoparathyroidism.
Observation:
- A case report details a 1.5-year-old girl presenting with recurrent oral thrush and seizures.
- Medical evaluation revealed severe hypocalcemia with low parathormone levels, indicating hypoparathyroidism.
- The patient also had a history of oral candidiasis.
Findings:
- The clinical presentation strongly suggested Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1).
- Genetic analysis of the index child and fetus (via chorionic villus sampling) confirmed mutations in the AIRE gene, causative for APS1.
- The parents chose medical termination of the pregnancy after genetic counseling.
Implications:
- Recurrent oral thrush in children warrants consideration for conditions beyond immunodeficiency, including APS1.
- Early diagnosis and genetic testing are crucial for managing APS1 and for family planning.
- This case highlights the importance of comprehensive evaluation for rare autoimmune disorders in pediatric patients.
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