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Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2
- Source :
- Journal of Clinical Immunology. 39:596-599
- Publication Year :
- 2019
- Publisher :
- Springer Science and Business Media LLC, 2019.
-
Abstract
- 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. 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. 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.
- Subjects :
- Male
medicine.medical_specialty
Adolescent
medicine.drug_class
DNA Mutational Analysis
Immunology
Antibiotics
Mucocutaneous Candidiasis
medicine.disease_cause
Immunophenotyping
Consanguinity
Medical microbiology
medicine
Humans
Immunology and Allergy
Genetic Predisposition to Disease
Chronic mucocutaneous candidiasis
Genetic Association Studies
Adaptor Proteins, Signal Transducing
Genetic testing
Mutation
Bronchiectasis
medicine.diagnostic_test
business.industry
Candidiasis, Chronic Mucocutaneous
High-Throughput Nucleotide Sequencing
medicine.disease
Dermatology
Pedigree
Oral thrush
Th17 Cells
business
Biomarkers
Subjects
Details
- ISSN :
- 15732592 and 02719142
- Volume :
- 39
- Database :
- OpenAIRE
- Journal :
- Journal of Clinical Immunology
- Accession number :
- edsair.doi.dedup.....62bfbdd623d67f81ddb8be3f1494ad49