RESUMO
RESUMEN La candidiasis mucocutánea crónica se caracteriza por infecciones recurrentes o persistentes en la piel, las uñas y las mucosas, producida por especies de Candida sp. Esta va a ser secundaria a cualquier alteración en la inmunidad antimicótica, en la cual no solo la producción de IL-17, sino cualquier defecto en la diferenciación de los linfocitos T hacia su perfil TH17, juegan un papel fundamental y van a desencadenar una susceptibilidad a esta infección, que dependiendo de la etiología genética, puede ser una manifestación sindrómica con otras características clínicas y endocrinológicas asociadas. Aquí revisamos de manera práctica, clara y concisa los defectos genéticos hasta ahora encontrados, implicados en la aparición de la candidiasis mucocutánea crónica.
SUMMARY Chronic mucocutaneous candidiasis is an infectious phenotype characterized by recurrent or persistent infections in the skin, nails and mucous membranes produced by Candida sp. This is secondary to any alteration in the antifungal immunity, in which not only the production of IL-17, but any defect in the differentiation of the T lymphocytes towards their TH17 profile, play a fundamental role and will unchain a susceptibility to this infection; that depending on the genetic etiology, can be a syndromic manifestation with other associated infectious and endocrinological clinical characteristics. Here, we review in a practical, clear and concise manner, the genetic defects so far found to be involved in the appearance of chronic mucocutaneous candidiasis.
Assuntos
Humanos , Candidíase Mucocutânea Crônica , GenéticaRESUMO
IL-17 immunity has been shown to be essential for mucocutaneous protection against Candida albicans in mice and humans. However, mice with defective IL-17 immunity display broader susceptibility, as they are also prone to infections with diverse infectious agents at various sites. Humans with genetic defects affecting their IL-17 immunity usually suffer from chronic mucocutaneous candidiasis (CMC): recurrent or persistent infections of the skin, nails, and mucosae with C. albicans, with or without other clinical signs. Most patients with autosomal dominant (AD) hyper-IgE syndrome (HIES) due to STAT3 deficiency or AD STAT1 gain-of-function display impaired IL-17-producing T-cell development, and CMC is one of their principal clinical manifestations. Similarly, patients with autosomal recessive (AR) autoimmune polyendocrine syndrome type 1 (APS-1) caused by AIRE deficiency have high levels of neutralizing autoantibodies against IL-17A, IL-17F and/or IL-22 and present CMC as their only infectious disease. Finally, CMC is the main clinical phenotype observed in patients with inborn errors specifically affecting IL-17 immunity. Indeed, patients with AD IL-17F deficiency or AR IL-17RA or ACT1 deficiency display CMC and, to a lesser extent, superficial staphylococcal diseases. Candida infection was recently reported in psoriasis patients treated with anti-IL-17A antibodies. Careful monitoring for CMC is thus important during anti-IL-17 treatment.
Assuntos
Infecções/imunologia , Interleucina-17/fisiologia , Animais , Anticorpos Monoclonais/efeitos adversos , Anticorpos Monoclonais/imunologia , Anticorpos Monoclonais/uso terapêutico , Candidíase Mucocutânea Crônica/etiologia , Candidíase Mucocutânea Crônica/imunologia , Modelos Animais de Doenças , Suscetibilidade a Doenças , Humanos , Síndromes de Imunodeficiência/complicações , Interleucina-17/antagonistas & inibidores , Interleucina-17/deficiência , Síndrome de Job/complicações , Síndrome de Job/genética , Síndrome de Job/imunologia , Camundongos , Camundongos Knockout , Poliendocrinopatias Autoimunes/complicações , Poliendocrinopatias Autoimunes/genética , Poliendocrinopatias Autoimunes/imunologia , Psoríase/complicações , Psoríase/tratamento farmacológico , Psoríase/imunologia , Infecções Cutâneas Estafilocócicas/imunologiaRESUMO
El síndrome de poliendocrinopatía autoinmune - candidiasis mucocutánea crónica - distrofia ectodérmica (APECED) es una enfermedad rara, de origen genético, caracterizada por fallos endocrinológicos de origen autoinmune, candidiasis mucocutánea crónica y defectos ectodérmicos. Se describe un caso en una niña de 10 años con las manifestaciones dermatológicas características de este síndrome.
Autoimmune polyendocrinopathy - chronic mucocutaneous candidiasis - ectodermal dystrophy syndrome (APECED) is a rare genetic disease, characterized by autoimmune endocrine disorders, chronic mucocutaneous candidiasis and ectodermal disorders. We herein describe a case in a 10-year-old girl with the characteristics dermatological manifestations of this syndrome.
