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Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2
Sagar Bhattad1, Chitra Dinakar2, Haneesha Pinnamaraju2
1Pediatric Immunology and Rheumatology Division, Department of Pediatrics, Aster CMI Hospital, Bangalore, India. drsagarbhattad@gmail.com.
Background:
IL-17-mediated signaling is crucial in defense against fungi and bacteria. Defective Th17 immunity has been implicated in a group of disorders called chronic mucocutaneous candidiasis (CMC). TRAF3IP2 is an adaptor protein involved in downstream signaling for IL-17 receptors.
Case:
An 18-year-old boy, product of consanguineous wedlock, presented with history of repeated episodes of oral thrush and recurrent pneumonia from first year of life. On examination, he was wasted and had oral thrush and abnormal dentition; grade 2 clubbing and respiratory system examination revealed coarse crepitations. On evaluation, HIV status was negative and basic immunological screen was unrewarding. Genetic testing by next-generation sequencing showed a novel homozygous mutation in TRAF3IP2 gene not reported to date. The defect is likely to cause ACT1 deficiency. He was started on antibiotic and antifungal prophylaxis and remains well on follow-up.
Conclusion:
We describe an adolescent boy with recurrent oral candidiasis and bronchiectasis due to a novel mutation in TRAF3IP2 gene, not reported to date. This is also the only second report of CMC due to ACT1 deficiency.
Insights
A novel mutation in the TRAF3IP2 gene caused ACT1 deficiency, leading to chronic mucocutaneous candidiasis (CMC) in an adolescent. This discovery highlights TRAF3IP2
Area of Science:
- Immunology
- Genetics
- Molecular Biology
Background:
- Interleukin-17 (IL-17) signaling is vital for combating fungal and bacterial infections.
- Chronic mucocutaneous candidiasis (CMC) is linked to impaired Th17 immunity.
- TRAF3IP2 encodes an adaptor protein crucial for IL-17 receptor downstream signaling.
Observation:
- An 18-year-old male presented with recurrent oral thrush and pneumonia since infancy.
- Clinical findings included wasting, oral thrush, abnormal dentition, clubbing, and coarse crackles.
- Initial immunological screening and HIV tests were unremarkable.
Findings:
- Next-generation sequencing identified a novel homozygous mutation in the TRAF3IP2 gene.
- The identified mutation is predicted to cause ACT1 deficiency.
- This represents the second reported case of CMC resulting from ACT1 deficiency.
Implications:
- This case expands the known genetic causes of CMC.
- Understanding TRAF3IP2 mutations deepens insights into IL-17 pathway function.
- Highlights the importance of genetic testing for unexplained immunodeficiencies.
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