Back to Search
Start Over
Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2.
- Source :
-
Journal of clinical immunology [J Clin Immunol] 2019 Aug; Vol. 39 (6), pp. 596-599. Date of Electronic Publication: 2019 Jul 10. - Publication Year :
- 2019
-
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.<br />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.<br />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.
- Subjects :
- Adolescent
Biomarkers
Consanguinity
DNA Mutational Analysis
High-Throughput Nucleotide Sequencing
Humans
Immunophenotyping
Male
Pedigree
Th17 Cells immunology
Th17 Cells metabolism
Adaptor Proteins, Signal Transducing genetics
Candidiasis, Chronic Mucocutaneous diagnosis
Candidiasis, Chronic Mucocutaneous genetics
Genetic Association Studies
Genetic Predisposition to Disease
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 1573-2592
- Volume :
- 39
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Journal of clinical immunology
- Publication Type :
- Academic Journal
- Accession number :
- 31292894
- Full Text :
- https://doi.org/10.1007/s10875-019-00664-x