Doença rara caracterizada por infecções fúngicas persistentes por *Candida* na pele e mucosas, associada a diversas manifestações autoimunes e inflamatórias. Pode apresentar dermatite eczematoide, infecções recorrentes e alterações em órgãos como pulmões e rins.
Introdução
O que você precisa saber de cara
Visão geral
Sinais e sintomas
O quadro clínico abrange manifestações como anormalidade inflamatória da pele, dermatite eczematoide, infecções recorrentes por Aspergillus, herpes recorrente e infecções recorrentes do trato respiratório superior. Podem ocorrer enterocolite, anormalidade funcional da bexiga e hepatoesplenomegalia.[1][2]
Alterações vasculares e circulatórias documentadas incluem estenose da artéria renal, hipertensão renovascular, dilatação da artéria carótida, dilatação da artéria cerebral, calcificação medial de grandes artérias e hipertensão arterial pulmonar.[1][2]
Manifestações hematológicas, imunológicas e esqueléticas descritas englobam contagem total de linfócitos T diminuída, contagem total de linfócitos B diminuída, nível sérico anormal de interferon-gama, trombocitopenia autoimune, neutropenia na presença de anticorpos anti-neutrófilos, positividade do anticorpo antifosfolipídeo, maturação esquelética atrasada e osteoporose generalizada. Complicações mais graves podem incluir encefalite infecciosa, carcinoma esofágico e carcinoma de células escamosas orofaríngeo.[1][2]
Causas genéticas
A condição está associada a variantes patogênicas em diversos genes relacionados à resposta imune, incluindo IL17RA (Interleukin-17 receptor A), STAT1 (Signal transducer and activator of transcription 1-alpha/beta), IL17RC (Interleukin-17 receptor C), CLEC7A (C-type lectin domain family 7 member A), IL17F (Interleukin-17F) e TRAF3IP2 (E3 ubiquitin ligase TRAF3IP2).[1][3]
Diagnóstico
Tratamento e manejo
Tratamentos citados na literatura
As seguintes substâncias foram identificadas por meio de mineração de literatura científica associadas à doença, não constituindo recomendações clínicas de uso ou prescrição terapêutica: Ketoconazole (16 publicações), ruxolitinib (7 publicações), Fluconazole (6 publicações), Clotrimazole (5 publicações), Azoles (4 publicações), Amphotericin B (3 publicações), Itraconazole (3 publicações), Iron (2 publicações), Cyclophosphamide (2 publicações) e Flucytosine (2 publicações).[4]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A candidíase familiar é uma tendência herdada de desenvolver infecções causadas por um tipo de fungo chamado Candida. As pessoas com a condição tipicamente apresentam infecções da pele, das unhas e do revestimento úmido das cavidades corporais (membranas mucosas). Essas infecções são recorrentes e persistentes, o que significa que retornam repetidamente e podem durar muito tempo. Esse padrão de infecção é chamado de candidíase mucocutânea crônica.
A Candida está comumente presente na pele e nas membranas mucosas e, na maioria das pessoas, geralmente não causa problemas de saúde. No entanto, certos medicamentos (como antibióticos e corticosteroides) e outros fatores podem levar ao crescimento excessivo ocasional de Candida (candidíase) na boca (onde é conhecida como sapinho) ou na vagina. Esses episódios, comumente chamados de infecções por fungos, geralmente duram apenas um curto período antes de serem eliminados por um sistema imunológico saudável.
A maioria das pessoas com candidíase familiar tem infecções por fungos crônicas ou recorrentes que começam na primeira infância. As infecções de pele levam a uma erupção com manchas crostosas e espessas; quando essas manchas ocorrem no couro cabeludo, podem causar perda de cabelo na área afetada (alopecia cicatricial). A candidíase das unhas pode resultar em unhas espessas, rachadas e descoloridas, além de inchaço e vermelhidão da pele ao redor. Sapinho e sintomas gastrointestinais como distensão abdominal, constipação ou diarreia são comuns em pessoas com a condição. Mulheres com candidíase familiar podem desenvolver infecções vaginais frequentes por fungos, e bebês podem ter infecções por fungos na pele que causam assadura persistente.
Dependendo da alteração genética envolvida nesta condição, algumas pessoas com a condição correm risco de desenvolver candidíase sistêmica, uma condição mais grave na qual a infecção se espalha pela corrente sanguínea para vários órgãos, incluindo o cérebro e as meninges, que são as membranas que cobrem o cérebro e a medula espinhal. A candidíase sistêmica pode ser potencialmente fatal.
Infecções crônicas ou recorrentes por fungos podem ocorrer em pessoas sem candidíase familiar. Algumas pessoas experimentam candidíase recorrente como parte de uma suscetibilidade geral a infecções porque seus sistemas imunológicos estão comprometidos por uma doença como a síndrome da imunodeficiência adquirida (AIDS) ou imunodeficiência combinada grave (SCID), por medicamentos ou por outros fatores. Outras pessoas têm síndromes como poliautoimunidade poliendócrina-candidíase-distúrbio ectodérmico (APECED) ou síndrome hiper-IgE de herança autossômica dominante (AD-HIES) que incluem uma tendência a desenvolver candidíase juntamente com outros sinais e sintomas que afetam vários órgãos e sistemas do corpo.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoDoença rara caracterizada por infecções fúngicas persistentes por *Candida* na pele e mucosas, associada a diversas manifestações autoimunes e inflamatórias. Pode apresentar dermatite eczematoide, infecções recorrentes e alterações em órgãos como pulmões e rins.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 38 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 123 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
6 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Immunodeficiency 51
A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.
Immunodeficiency 31B
A disorder characterized by susceptibility to severe mycobacterial and viral infections. Affected individuals can develop disseminated infections and die of viral illness.
Candidiasis, familial, 9
A disorder characterized by altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.
Candidiasis, familial, 4
A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.
Candidiasis, familial, 6
A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.
Psoriasis 13
A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis.
Variantes genéticas (ClinVar)
336 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 8 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
32 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Candidíase mucocutânea crônica
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Publicações mais relevantes
IL-17-mediated antifungal immunity restricts Candida albicans pathogenicity in the oral cavity.
Candida albicans is a common resident of the microbiota that supports host homeostasis but can cause disease when immune defences are impaired. Mucocutaneous candidiasis in individuals with IL-17 immune defects provides insights into the immune system's role in controlling C. albicans. Here, using a murine model of oral colonization, we show that IL-17 signalling maintains C. albicans in a non-pathogenic state. Loss of IL-17 leads to fungal filamentation and upregulation of hyphae-associated genes, which is accompanied by epithelial barrier disruption and inflammation, linked to aberrant IL-22 and IL-13 production. The emergence of pathogenic fungal traits was associated with impaired zinc chelation due to reduced calprotectin expression in the IL-17-deficient mice. Prolonged exposure to the immune-dysregulated tissue led to selection of stable, damage-inducing C. albicans variants, mirroring the evolution of isolates from a chronic mucocutaneous candidiasis patient. These findings reveal how IL-17 protects against fungal pathogenicity and how immune dysfunction fosters C. albicans adaptation and diversification within the host.
Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report.
Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy is an extremely rare autosomal recessive disorder caused by inborn errors of immunity. It is due to a loss-of-function mutation in the AIRE autoimmune regulator gene. Its manifestations include autoimmunity affecting endocrine glands, in addition to non-endocrine manifestations including dental enamel hypoplasia, alopecia areata, hepatitis, and chronic mucocutaneous candidiasis. Globally, 10 cases per million are affected by this condition, with higher incidence in highly consanguineous populations. Here, we describe a novel AIRE gene mutation in a pediatric patient from Lebanon, along with the observed phenotype. A nine-year-old boy with history of craniosynostosis presented with jaundice. His past medical history was significant for recurrent oral thrush, keratoconjunctivitis, nail dystrophy, and alopecia. Upon presentation, he had jaundice, isolated splenomegaly, and severe failure to thrive. Laboratory tests showed transaminitis, cholestasis, and hypergammaglobulinemia. Abdominal ultrasound findings were suggestive of cirrhosis with compensated portal hypertension. The differential diagnosis included viral infection, inborn errors of metabolism, and autoimmune hepatitis. Exome sequencing identified a novel homozygous pathogenic variant in the AIRE gene, NM_000383.4: c.1066dup p.(Arg356Profs*16), confirming the diagnosis. This study expands the genotypic and phenotypic spectrum of a rare inborn error of immunity in a child with chronic mucocutaneous candidiasis, enamel hypoplasia, and hepatitis.
When One Gland Speaks First: Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1) Unmasked by Isolated Hypoparathyroidism.
Autoimmune polyendocrinopathy syndrome type 1 (APS-1) is a rare autosomal recessive disorder caused by pathogenic variants in the AIRE gene and classically characterized by the triad of hypoparathyroidism, chronic mucocutaneous candidiasis, and adrenal insufficiency. Although hypoparathyroidism is often the earliest manifestation, isolated and prolonged monosymptomatic presentations remain uncommon and may delay recognition of the syndrome. We report the case of a child who was first presented at four years of age with severe hypocalcemia in the setting of acute gastroenteritis and was diagnosed with hypoparathyroidism. Apart from hypomagnesemia and hyperphosphatemia, extensive workup revealed no additional autoimmune or endocrine abnormalities. Genetic testing subsequently identified a homozygous likely pathogenic stop-loss AIRE gene mutation, confirming APS-1. Over a three-year follow-up period, the patient remained clinically stable with well-controlled hypoparathyroidism, except for hypocalcemic episodes during diarrheal illnesses, and persistently normal adrenal, thyroid, pancreatic, and celiac screening. The first additional disease feature emerged three years after the initial presentation, at the age of seven years, when a fungal nail infection consistent with mucocutaneous candidiasis was noted. This case highlights the marked phenotypic variability with delayed evolution of APS-1 and underscores that isolated hypoparathyroidism, even when severe, may precede other disease components by several years. Early genetic testing in children with apparently isolated hypoparathyroidism allows anticipatory guidance, structured surveillance, and timely recognition of evolving autoimmune manifestations.
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a case series and experience from a UK tertiary paediatric hospital.
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a multi-system autoimmune disorder caused by AIRE gene variants. Diagnosis can be challenging and often delayed. A specialised clinic for children and young people with APECED established in 2024 at Bristol Royal Hospital for Children, recruited patients from South-West England. We describe the diagnostic journey, disease progression and management challenges for 4 patients with APECED. All cases had a history of fungal nail infections and chronic mucocutaneous candidiasis preceding the development of endocrinopathy. Hypoparathyroidism was the most common endocrine presentation (n=3). Two patients had pancreatic exocrine dysfunction requiring pancreatic enzyme replacement. One patient had primary ovarian insufficiency (POI) aged 11. One female without evidence of POI was referred to fertility services to discuss fertility preservation. Immunomodulation was used in 2 patients; 1 received sirolimus, rituximab, corticosteroids, mycophenolate followed by ruxolitinib and 1 patient recently started ruxolitinib. Inter-speciality working is important to detect and manage a range of comorbidities as new immunomodulatory therapies that aim to prevent disease progression are emerging. Proactive screening for certain autoantibodies such as 21-OH can help predict patients at risk of certain endocrinopathies and may provide an opportunity for early intervention to prevent long-term morbidity.
Long-term follow-up of autoimmune polyendocrine syndrome type-1 in Norway.
Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare, yet severe multiorgan autoimmune disease caused by mutations in the Autoimmune Regulator (AIRE) gene. Classical APS-1 arises from biallelic recessive AIRE mutations, whereas dominant negative mutations cause a milder, non-classical phenotype with variable clinical presentation. Due to its rarity, long-term, population-based data are limited, underscoring the need for extended follow-up to guide lifelong care and research. To characterize the clinical profiles of APS-1 and explore associations between disease manifestations, autoantibody profiles, and AIRE mutations over an extended follow-up (1996-2025). All known Norwegian patients with APS-1. We analysed longitudinal clinical and laboratory data of 71 APS-1 patients (49 classical, 22 non-classical) from the Norwegian Registry of Organ-specific Autoimmune Diseases. Data included clinical progression, autoantibody and cytokine profiles, and AIRE genotypes. Additionally, we compared age at diagnosis of primary adrenal insufficiency (PAI) in patients with and without (n=999) APS-1. In classical APS-1, the most frequent clinical manifestations were chronic mucocutaneous candidiasis, enamel hypoplasia, and PAI, while for non-classical APS-1 vitiligo, hypothyroidism, and PAI were most common. A broad pro-inflammatory cytokine signature was observed in classical APS-1, along with increased levels of the soluble form of the IFN-α/β receptor. APS-1 should be considered in patients diagnosed with PAI before age 20, and AIRE sequencing is recommended for diagnostic confirmation. The presence of IFN-ω autoantibodies, a pro-inflammatory cytokine profile, and increased soluble IFN receptor levels further support the role of dysregulated interferon responses in APS-1 pathogenesis.
Publicações recentes
Selective JAK1 inhibition with upadacitinib controls STAT1 gain-of-function-related hidradenitis suppurativa and chronic mucocutaneous candidiasis.
Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report.
When One Gland Speaks First: Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1) Unmasked by Isolated Hypoparathyroidism.
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a case series and experience from a UK tertiary paediatric hospital.
Long-term follow-up of autoimmune polyendocrine syndrome type-1 in Norway.
📚 EuropePMC380 artigos no totalmostrando 197
Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report.
GenesWhen One Gland Speaks First: Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1) Unmasked by Isolated Hypoparathyroidism.
CureusAutoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a case series and experience from a UK tertiary paediatric hospital.
Journal of pediatric endocrinology & metabolism : JPEMLong-term follow-up of autoimmune polyendocrine syndrome type-1 in Norway.
The Journal of clinical endocrinology and metabolismA novel heterozygous pathogenic AIRE variant causing autoimmunity but not infectious susceptibility.
Journal of human immunityDecreased IL-17-producing TH cells as a diagnostic marker for STAT signaling-related primary immunodeficiencies.
The journal of allergy and clinical immunology. GlobalCARD9 Mutations in Patients with Invasive Fungal Infections.
MycopathologiaThe T385M STAT1 gain-of-function mutation confers the most severe disease outcomes.
Frontiers in immunologyIL-17-mediated antifungal immunity restricts Candida albicans pathogenicity in the oral cavity.
Nature microbiologySystematic and proactive evaluation of AIRE missense variant effects.
bioRxiv : the preprint server for biologyClinical and Immunological Impact of JAK Inhibition in Concurrent Down Syndrome and STAT1 Gain of Function.
Journal of clinical immunologyThe Skin Tells the Story: Early Signs of Inborn Errors of Immunity.
The journal of allergy and clinical immunology. In practiceDefects in Innate and Intrinsic Immunity in Morocco: A Retrospective Analysis of the Genetic Landscape and Clinical Correlations.
Pathogens & immunityCase Report: Clinical and molecular features of a radiosensitive autoimmune polyendocrine syndrome type 1 patient with oral carcinoma.
Frontiers in geneticsImproved outcome of HSCT in STAT1 gain-of-function disease following JAK inhibition bridging.
Journal of human immunityCase Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype.
Frontiers in immunologyAbundant Yet Aberrant T Helper Cell Responses to Candida albicans Underlie Mucosal Candidiasis in Humans and Mice.
European journal of immunologyA Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1.
Journal of clinical immunologyHead and Neck Malignancies in Autoimmune Polyendocrine Syndrome Type 1 (APS-1/APECED): A Scoping Review of Molecular Pathogenesis, Clinical Features, and Outcomes.
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Frontiers in immunologyA Norwegian cohort with STAT1-related disease - further expanding the clinical phenotype.
Frontiers in immunologyRELA Haploinsufficiency Manifesting as an Atypical Phenotype of Crohn's Disease.
Inflammatory bowel diseasesRefractory mediastinal pyogenic lymphadenitis in a patient with chronic mucocutaneous candidiasis.
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Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyHomozygosity for the Common IL23R R381Q Variant Associates with Increased Susceptibility to Chronic Mucocutaneous Candidiasis.
European journal of immunologyA Rare Case of Refractory Epilepsy Associated With Brain Calcifications and Mucocutaneous Candidiasis.
CureusHigh-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys.
Frontiers in immunologyPernicious Anemia in a Pediatric Patient With Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.
JCEM case reportsAmyloidosis in Human Inborn Errors of Immunity Predicts Poor Prognosis.
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Acta diabetologicaRenal disorders in Autoimmune Polyendocrinopathy Candidiasis Ectodermal dystrophy (APECED): a systematic review.
BMC pediatricsDeciphering the role of IL17RA in psoriasis and chronic mucocutaneous candidiasis: shared pathways and distinct manifestations.
Frontiers in immunologyChronic mucocutaneous candidiasis, mycobacterial infections and rosacea in a Mexican adult with STAT1 gain of function.
Biomedica : revista del Instituto Nacional de SaludRecurrent Enteritis and Intestinal Obstruction in a Patient with Chronic Mucocutaneous Candidiasis due to STAT1 Gain-of-Function Mutation.
MycopathologiaChronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report.
Dermatology reportsCoinfection of Leprosy and Chronic Mucocutaneous Candidiasis in a Family with STAT1 Gain-of-Function Mutation.
The American journal of tropical medicine and hygieneSTAT1 and STAT3 gain of function: clinically heterogenous immune regulatory disorders.
Current opinion in allergy and clinical immunologyA Novel Monoallelic Small Deletion Confers Gain-of-Function of STAT1 in a Child with Candidiasis and Mycobacterial Diseases.
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Clinical case reportsPartial Lipodystrophy Affecting the Extremities in a Young Woman With Autoimmune Polyglandular Syndrome 1.
JCEM case reportsReduction in mucosal-associated invariant T cells (MAIT) in APECED patients is associated with elevated serum IFN-γ concentration.
European journal of immunologyRecalcitrant extensive dermatophytosis in twin brothers with APECED syndrome.
Pediatric dermatologySTAT1 Gain-of-Function Mutation in Chronic Mucocutaneous Candidiasis.
Indian journal of pediatricsImmunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.
Journal of clinical immunologyClinical and Biological Perspectives on Noncanonical Esophageal Squamous Cell Carcinoma in Rare Subtypes.
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Frontiers in immunologyAn uncommon presentation of autoimmune polyglandular syndrome type 1 (APS-1)-A case report.
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Infection and drug resistanceA novel mutation site in STAT in a chronic mucocutaneous candidiasis pediatric patient with disseminated cryptococcosis: Case report and review of the literature.
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The Journal of clinical endocrinology and metabolismChronic Mucocutaneous Candidiasis Due to STAT1 Gene Variant.
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Clinical immunology communicationsPatients with recurrent vulvovaginal candidiasis exhibit a decrease in both the fungicidal activity of neutrophils and the proliferation of peripheral blood mononuclear cells.
MycosesNovel homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis.
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The Pediatric infectious disease journalCARD9 mutations in patients with fungal infections: An update from the last 5 years.
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Qatar medical journalJAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.
The Journal of allergy and clinical immunologyA partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.
The Journal of clinical investigationCutaneous Mucormycosis and Fusariosis in a Chinese Woman with CARD9 Deficiency.
MycopathologiaSTAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult.
Internal medicine (Tokyo, Japan)Lymphadenitis caused by Purpureocillium lilacinum in a patient with CARD9 deficiency.
Medical mycology case reportsCARD9 deficiency aggravated nonalcoholic steatohepatitis in mice through increasing inflammatory response.
Biochimica et biophysica acta. Molecular basis of diseaseAnticytokine Autoantibodies and Fungal Infections.
Journal of fungi (Basel, Switzerland)Genetic inhibition of CARD9 accelerates the development of atherosclerosis in mice through CD36 dependent-defective autophagy.
Nature communicationsAnalysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies.
Frontiers in immunologyChronic mucocutaneous candidiasis due to STAT1 gene mutation.
The Journal of dermatologyKnowledge mapping of COVID-19 and autoimmune diseases: a visual and bibliometric analysis.
Clinical and experimental medicineChronic mucocutaneous candidiasis presenting as refractory fissured tongue in a patient with IL-17RC mutation: the first reported case of Chinese ethnicity.
Emerging microbes & infectionsNeutrophils in STAT1 Gain-Of-Function Have a Pro-inflammatory Signature Which Is Not Rescued by JAK Inhibition.
Journal of clinical immunologyA Novel Interleukin 17 Receptor A Mutation in a Child with Chronic Mucocutaneous Candidiasis and Staphylococcal Skin Infections.
Turkish archives of pediatricsSuccessful Rezafungin Treatment of an Azole-Resistant Chronic Mucocutaneous Candidiasis in a STAT-1 Gain-of-Function Patient.
Journal of clinical immunologyCase for diagnosis. Disseminated erythematous and scaly plaques: chronic mucocutaneous candidiasis.
Anais brasileiros de dermatologiaQuality of life in women with chronic recurrent vulvovaginal candidosis: A sub-analysis of the prospective multicentre phase IIb/III Prof-001 study.
MycosesSARS-CoV-2-induced adrenal crisis in a patient with autoimmune polyglandular syndrome type 1: case report.
Folia medicaAn Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission.
Case reports in immunologyThe Th17/IL-17 Axis and Host Defense Against Fungal Infections.
The journal of allergy and clinical immunology. In practiceCARD9 deficiency promotes pancreatic cancer growth by blocking dendritic cell maturation via SLC6A8-mediated creatine transport.
OncoimmunologyA Rare Case of Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy Syndrome: Dental Perspective on Diagnosis and Management.
International journal of clinical pediatric dentistryCase report: Myocarditis in congenital STAT1 gain-of function.
Frontiers in immunologyA Novel Homozygous Mutation of AIRE Gene in a Patient With Autoimmune Polyglandular Syndrome Type I.
CureusUnusual Talaromyces marneffei and Pneumocystis jirovecii coinfection in a child with a STAT1 mutation: A case report and literature review.
Frontiers in immunologyHeterozygous gain-of-function mutations in human STAT1: A case of hemophagocytic lymphohistiocytosis due to chronic mucocutaneous candidiasis in a 17-month-old male.
Pediatric blood & cancerCase report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.
Frontiers in immunologyA family with interleukin-17 receptor A deficiency: a case report and review of the literature.
The Turkish journal of pediatricsHuman IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.
Science immunologyPractical challenges for functional validation of STAT1 gain of function genetic variants.
Clinical and experimental immunologyChronic Mucocutaneous Candidiasis: A Case Report.
Clinical, cosmetic and investigational dermatologyCharacterisation of APS-1 Experimental Models Is Crucial for Development of Novel Therapies.
BioMed research internationalAutosomal dominant chronic mucocutaneous candidiasis with STAT1 mutation can be associated with chronic active hepatitis: A case report.
Frontiers in pediatricsSuccessful application of photodynamic therapy for skin infection caused by Corynespora cassiicola in an immunosuppressed patient and literature review.
Photodiagnosis and photodynamic therapyDominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience.
Frontiers in immunologyCandida albicans V132 induces trained immunity and enhances the responses triggered by the polybacterial vaccine MV140 for genitourinary tract infections.
Frontiers in immunologyPrimary Invasive Cutaneous Fusariosis in Patients with STAT3 Hyper-IgE Syndrome.
Journal of clinical immunologyInborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.
Clinical and experimental immunologyChronic Mucocutaneous Candidiasis in An 11-Year-Old Child - A Case Report from South India.
Indian journal of dermatologyAberrant tolerogenic functions and proinflammatory skew of dendritic cells in STAT1 gain-of-function patients may contribute to autoimmunity and fungal susceptibility.
Clinical immunology (Orlando, Fla.)Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review.
MycopathologiaChronic oral mucocutaneous candidiasis, recurrent respiratory infection, hepatosplenomegaly, and autoimmune diabetes mellitus: A case report of a gain-of-function mutation of STAT1 in a Chinese boy.
Frontiers in pediatricsSingle-cell RNA sequencing combined with whole exome sequencing reveals the landscape of the immune pathogenic response to chronic mucocutaneous candidiasis with STAT1 GOF mutation.
Frontiers in immunologyImmunoprofiling of monocytes in STAT1 gain-of-function chronic mucocutaneous candidiasis.
Frontiers in immunologyCARD9 deficiency predisposing chromoblastomycosis: A case report and comparative transcriptome study.
Frontiers in immunologyCase report: A STAT1 gain-of-function mutation causes a syndrome of combined immunodeficiency, autoimmunity and pure red cell aplasia.
Frontiers in immunologyGain-of-function STAT1 mutation and visceral leishmaniasis.
Einstein (Sao Paulo, Brazil)A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1.
Frontiers in cell and developmental biologyThree Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors.
Journal of clinical immunologyLacrimo-auriculo-dento-digital syndrome with AIRE mutation: A case report.
Journal of stomatology, oral and maxillofacial surgeryMain human inborn errors of immunity leading to fungal infections.
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious DiseasesPearls & Oy-sters: Spinal Cord Candidiasis Linked to CARD9 Deficiency Masquerading as a Longitudinally Extensive Transverse Myelitis.
NeurologyAIRE gene mutation predisposing chronic mucocutaneous candidiasis and pigmented retinitis in two kids from a Chinese family.
Emerging microbes & infectionsEfficacy of Cochleated Amphotericin B in Mouse and Human Mucocutaneous Candidiasis.
Antimicrobial agents and chemotherapyUtility of ruxolitinib in a patient with chronic mucocutaneous candidiasis caused by STAT1 gain-of-function mutation.
Journal of the European Academy of Dermatology and Venereology : JEADVClinical and Genetic Characteristics of Ectodermal Dysplasia in Four Indian Children.
Indian journal of dermatologyChronic mucocutaneous candidiasis, pancytopenia, and systemic mycosis in a patient with STAT1 gene mutation ineffectively treated with ruxolitinib.
Central-European journal of immunologyAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and esophageal rupture by candida infection: A case report and review.
Journal de mycologie medicaleCARD9 Deficiency in Combination with Invasive Infection by Exophiala Dermatitidis in a Pediatric Patient.
MycopathologiaA child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain-of-function mutation: A case report and review of the literature.
Clinical case reportsImpact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.
Journal of clinical immunologyClinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia-Case Series.
GenesA mycobacterium fortuitum infection in chronic mucocutaneous candidiasis.
Pediatrics international : official journal of the Japan Pediatric SocietyChronic Mucocutaneous Candidiasis due to Signal Transducer and Activator of Transcription 1 (STAT 1) Mutation in an Indian Patient - A Case Report.
Indian dermatology online journalOral manifestations of autoimmune polyglandular syndrome type 1.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryCARD9 Regulation and its Role in Cardiovascular Diseases.
International journal of biological sciencesCase Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant.
Frontiers in immunologyMucocutaneous and cutaneous generalized candidiasis in a thymectomized dog.
Medical mycology case reportsRheumatologic diseases in patients with inborn errors of immunity in the USIDNET registry.
Clinical rheumatology[Chronic mucocutaneous candidiasis].
Orvosi hetilapIL-17 serum level in patients with chronic mucocutaneous candidiasis disease.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyAnticytokine autoantibodies: Autoimmunity trespassing on antimicrobial immunity.
The Journal of allergy and clinical immunologyCase Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association.
Frontiers in immunologyChronic tongue pain and alopecia.
Pediatric dermatologyCo-Occurrence of Chronic Mucocutaneous Candidiasis with Woolly Hair.
Skin appendage disordersHypoadrenalism as the Single Presentation of Autoimmune Polyglandular Syndrome Type 1.
Journal of the Endocrine SocietyCARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited.
Journal of clinical immunologyAutoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.
Frontiers in pediatricsRegulation of IL-17A-Producing Cells in Skin Inflammatory Disorders.
The Journal of investigative dermatologyRecurrent Candida-Associated Esophageal Strictures in an Immunocompetent Patient.
ACG case reports journal[Chronic mucocutaneous candidiasis associated with autoimmunity and ectodermal dysplasia. A case report].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)Candidiasis in patients with APS-1: low IL-17, high IFN-γ, or both?
Current opinion in immunologyCase Report: Disseminated Talaromyces marneffei Infection in a Patient With Chronic Mucocutaneous Candidiasis and a Novel STAT1 Gain-of-Function Mutation.
Frontiers in immunologyInfections in the monogenic autoimmune syndrome APECED.
Current opinion in immunologyDefects of the Innate Immune System and Related Immune Deficiencies.
Clinical reviews in allergy & immunologyGenetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
Journal of clinical immunologyAutoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report.
BMC endocrine disordersBiallelic TRAF3IP2 variants causing chronic mucocutaneous candidiasis in a child harboring a STAT1 variant.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyCharacterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series.
Orphanet journal of rare diseasesCase Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion.
Frontiers in pediatricsThe potential role for topical imiquimod in the treatment of chronic mucocutaneous candidiasis caused by gain-of-function mutation in STAT1: A case-report.
Dermatologic therapyChronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain-of-function.
Clinical and experimental immunologyCase Report: Rituximab Improved Epileptic Spasms and EEG Abnormalities in an Infant With West Syndrome and Anti-NMDAR Encephalitis Associated With APECED.
Frontiers in neurologyReport of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?
Italian journal of pediatricsAutoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.
Journal of endocrinological investigationClinical, immunological, and genetic features in 938 patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a systematic review.
Expert review of clinical immunologyAtypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade.
BMJ case reportsA Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.
Journal of clinical immunologyClinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
Frontiers in immunologyChronic mucocutaneous candidiasis associated with paracoccidioidomycosis in a patient with mannose receptor deficiency: First case reported in the literature.
Revista da Sociedade Brasileira de Medicina TropicalAutoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence.
Frontiers in immunologyTranscriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints.
Frontiers in immunologyLate-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.
Immunologic researchAn AIREless Breath: Pneumonitis Caused by Impaired Central Immune Tolerance.
Frontiers in immunologyAutoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes.
GenesPrimary immunodeficiency and chronic mucocutaneous candidiasis: pathophysiological, diagnostic, and therapeutic approaches.
Allergologia et immunopathologiaStepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation.
Journal of clinical immunologyPalmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.
Molecular genetics & genomic medicineBronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated With STAT1 Gain-of-Function Mutation: Detailed Clinicopathological Findings.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyHypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1.
Endocrinology, diabetes & metabolism case reportsSTAT 1 mutation associated with chronic mucocutaneous candidiasis and pancytopenia.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and ImmunologyChronic Candida infection, bronchiectasis, immunoglobulin abnormalities, and stunting: a case report of a natural mutation of STAT1 (c.986C>G) in an adolescent male.
BMC infectious diseasesCase Report: Dental Findings Can Aid in Early Diagnosis of APECED Syndrome.
Frontiers in dental medicineTwo patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency.
The Journal of allergy and clinical immunologyA Patient With AIRE Mutation Who Presented With Severe Diarrhea and Lung Abscess.
The Pediatric infectious disease journalChronic Mucocutaneous Candidiasis in Early Life: Insights Into Immune Mechanisms and Novel Targeted Therapies.
Frontiers in immunologyA new case of deep dermatophytic disease with inherited CARD9 deficiency.
International journal of dermatologyThe pathogenic T387A missense mutation in the gene encoding signal transducer and activator of transcription 1 exhibits a differential gene expression profile.
Molecular immunologyA Case of Critical Lower-Limb Ischemia in a 29-Year-Old Man with Autoimmune Polyglandular Syndrome Type 1 (APS-1).
The American journal of case reportsAAV9-mediated AIRE gene delivery clears circulating antibodies and tissue T-cell infiltration in a mouse model of autoimmune polyglandular syndrome type-1.
Clinical & translational immunologyHuman STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.
Journal of clinical immunologyAutoimmune polyendocrine syndrome type 1 (APECED) in the Indian population: case report and review of a series of 45 patients.
Journal of endocrinological investigationA novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.
Molecular medicine reportsAn IL-17F.S65L Knock-In Mouse Reveals Similarities and Differences in IL-17F Function in Oral Candidiasis: A New Tool to Understand IL-17F.
Journal of immunology (Baltimore, Md. : 1950)Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype.
Frontiers in immunologyAPECED-Associated Hepatitis: Clinical, Biochemical, Histological and Treatment Data From a Large, Predominantly American Cohort.
Hepatology (Baltimore, Md.)Biological and clinical significance of T helper 17 cell deficiency: insight into monogenic defects.
European annals of allergy and clinical immunologyAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Candidíase mucocutânea crônica e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
A condição é causada por alterações genéticas em vias da resposta imunológica, especialmente ligadas à interleucina-17. Genes como *STAT1*, *IL17RA*, *IL17RC*, *CLEC7A*, *IL17F* e *TRAF3IP2* estão descritos como causas da doença.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
5 fontes citadas no texto · 6 publicações do grafo RarasNet (PubMed) · 5 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (2026). Candidíase mucocutânea crônica. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/candidiase-mucocutanea-cronica
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Candidíase mucocutânea crônica
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Reposicionamento
- fonte: Drug Repurposing Hub
- Ensaios clínicos
- fonte: ClinicalTrials.gov
