1 - Primary Immunodeficiencies Unit, Hospital Dona Estefânia—CHLC, EPE, Rua Jacinta Marto, 1169-045 Lisbon, Portugal
2 - St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA
3 - Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Instituto de Investigação e Inovação em Saúde, Porto, Portugal
4 - CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, Portugal
- Journal of Clinical Immunology
- https://doi.org/10.1007/s10875-021-01026-2
Resumo:
Inborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound hetero-zygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.
Palavras Chave: ACT1, TRAF3IP2, chronic mucocutaneous candidiasis, Candida spp., IL-17