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Journal of Clinical Immunology

, Volume 39, Issue 6, pp 596–599 | Cite as

Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2

  • Sagar BhattadEmail author
  • Chitra Dinakar
  • Haneesha Pinnamaraju
  • Aparna Ganapathy
  • Ashraf Mannan
Original Article

Abstract

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.

Keywords

Mucocutaneous candidiasis TRAF3IP2 ACT1 immune deficiency 

Notes

Acknowledgments

We acknowledge Dr. Biman Saikia and Dr. Smrity Sahu, Department of Immunopathology, PGIMER, Chandigarh, India, for performing the Th17 analysis in the index case.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Supplementary material

10875_2019_664_MOESM1_ESM.docx (44 kb)
ESM 1 (DOCX 43 kb)

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Pediatric Immunology and Rheumatology Division, Department of PediatricsAster CMI HospitalBangaloreIndia
  2. 2.Department of PediatricsSt. John’s Medical College HospitalBangaloreIndia
  3. 3.Strand Life SciencesBangaloreIndia

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