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2.
J Dermatol ; 47(2): 181-184, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31829468

RESUMO

Fusariosis is the second most common mold infection after aspergillosis, and keratomycosis is the most encountered implantation infection. Here, we report a case of a 4-year-old Han Chinese girl presenting with an itchy mass on her right face of almost 2 years' duration. Direct smear of the lesion sample was positive for fungal hyphae. Biopsy of the lesion showed many fungal hyphae in the epidermis and dermis. The pathogen was identified as Fusarium lichenicola by molecular sequencing and phylogenetic analysis based on the TEF-1α gene. Whole-exome sequencing analysis using her peripheral blood revealed a heterozygous mutation in the STAT3 gene, which is related to autosomal dominant hyper-immunoglobulin E syndrome (AD-HIES). The lesion improved following treatment with i.v. and intralesional amphotericin B, oral voriconazole and topical luliconazole cream. To our knowledge, this is the second reported case of a special localized cutaneous lesion caused by Fusarium species in a child with AD-HIES. Both cases suggest that STAT3 deficiency may increase susceptibility to fusariosis.


Assuntos
Antifúngicos/administração & dosagem , Fusariose/diagnóstico , Fusarium/isolamento & purificação , Síndrome de Job/imunologia , Administração Cutânea , Administração Oral , Anfotericina B/administração & dosagem , Biópsia , Pré-Escolar , Análise Mutacional de DNA , Quimioterapia Combinada/métodos , Face , Feminino , Fusariose/imunologia , Fusariose/microbiologia , Fusarium/imunologia , Humanos , Imidazóis/administração & dosagem , Injeções Intralesionais , Síndrome de Job/complicações , Síndrome de Job/diagnóstico , Síndrome de Job/genética , Fator de Transcrição STAT3/genética , Pele/microbiologia , Resultado do Tratamento , Voriconazol/administração & dosagem , Sequenciamento Completo do Exoma
3.
Stem Cell Res ; 41: 101586, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31707214

RESUMO

Autosomal dominant Hyper IgE syndrome (AD-HIES), a rare immune deficiency affecting fewer than one per million people, is caused by heterozygous deleterious mutations in STAT3. STAT3 signaling plays crucial roles in basic cellular functions affecting broad aspects of cellular homeostasis. Accordingly, in addition to immunological deficits, patients experience severe multisystem non-immunological features. Human induced pluripotent stem cells (hiPSC) are well established as in vivo disease models for various human pathologies. We describe the generation of iPSC from three AD-HIES patients. These iPSCs express pluripotency markers, differentiate into three germ layers, have normal karyotype and similar genome identity to parental cells.


Assuntos
Diferenciação Celular , Fibroblastos/patologia , Células-Tronco Pluripotentes Induzidas/patologia , Síndrome de Job/genética , Síndrome de Job/patologia , Mutação , Fator de Transcrição STAT3/genética , Células Cultivadas , Fibroblastos/metabolismo , Genes Dominantes , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo
5.
Proc Natl Acad Sci U S A ; 116(33): 16463-16472, 2019 08 13.
Artigo em Inglês | MEDLINE | ID: mdl-31346092

RESUMO

Heterozygous in-frame mutations in coding regions of human STAT3 underlie the only known autosomal dominant form of hyper IgE syndrome (AD HIES). About 5% of familial cases remain unexplained. The mutant proteins are loss-of-function and dominant-negative when tested following overproduction in recipient cells. However, the production of mutant proteins has not been detected and quantified in the cells of heterozygous patients. We report a deep intronic heterozygous STAT3 mutation, c.1282-89C>T, in 7 relatives with AD HIES. This mutation creates a new exon in the STAT3 complementary DNA, which, when overexpressed, generates a mutant STAT3 protein (D427ins17) that is loss-of-function and dominant-negative in terms of tyrosine phosphorylation, DNA binding, and transcriptional activity. In immortalized B cells from these patients, the D427ins17 protein was 2 kDa larger and 4-fold less abundant than wild-type STAT3, on mass spectrometry. The patients' primary B and T lymphocytes responded poorly to STAT3-dependent cytokines. These findings are reminiscent of the impaired responses of leukocytes from other patients with AD HIES due to typical STAT3 coding mutations, providing further evidence for the dominance of the mutant intronic allele. These findings highlight the importance of sequencing STAT3 introns in patients with HIES without candidate variants in coding regions and essential splice sites. They also show that AD HIES-causing STAT3 mutant alleles can be dominant-negative even if the encoded protein is produced in significantly smaller amounts than wild-type STAT3.


Assuntos
Proteínas de Ligação a DNA/genética , Síndrome de Job/genética , Sítios de Splice de RNA/genética , Fator de Transcrição STAT3/genética , Adulto , Alelos , Linfócitos B/metabolismo , Linfócitos B/patologia , Pré-Escolar , Éxons/genética , Feminino , Regulação da Expressão Gênica/genética , Heterozigoto , Humanos , Síndrome de Job/patologia , Mutação com Perda de Função/genética , Masculino , Pessoa de Meia-Idade , Linfócitos T/metabolismo , Linfócitos T/patologia
6.
BMC Med Genet ; 20(1): 114, 2019 06 26.
Artigo em Inglês | MEDLINE | ID: mdl-31242861

RESUMO

BACKGROUND: Dedicator of cytokinesis 8 (DOCK8) deficiency (MIM #243700) is a rare disease, leads to a combined primary immunodeficiency (PID), and accounts for the autosomal recessive-hyper immunoglobulin E syndrome (AR-HIES). DOCK8 deficiency status characterizes by recurrent infections, atopy, and risk of cancer. Lymphoproliferative disease complicating PID, is difficult to diagnose. Our aim is to present a rare case of PID, and to the best of our knowledge, she is the first case of DOCK8 deficiency from Iraq. The genetic diagnosis was carried out in Japan using dried blood spot-based DNA transfer and whole-exome sequencing. CASE PRESENTATION: An 11-year-old Iraqi girl, of double first-cousin-parents, had a history of severe eczema, food allergy, and repeated infections. She presented with a jaw mass, bilateral cervical and axillary lymphadenopathy, and immunoglobulin (Ig) assays of 20, 3.3 and 1.7-fold above maximum normal level for age of IgE, IgA and IgG, respectively, along with a low IgM, eosinophilia and lymphopenia. Based on the jaw mass biopsy, non-Hodgkin lymphoma was suggested in Iraq, whereas histopathological re-evaluation in Japan revealed the diagnosis of a polyclonal reactive proliferation spectrum of lymphoproliferative disorders/plasmacytic hyperplasia, complicating PID. Whole-exome sequencing supported the diagnosis of PID by identifying a homozygous DOCK8 mutation with previously reported pathogenicity (NM_203447:c.3332delT, p.Phe1113Leufs*2), that may be attributed to consanguinity. CONCLUSIONS: International collaboration using an effective DNA transportation technique and next-generation sequencing was the key to pinpoint the diagnosis of DOCK8 deficiency. Our case asserted that careful pathogenetic evaluation, in an advanced setting, was crucial for ruling out the neoplastic process. Pediatricians in areas with a high prevalence of consanguinity marriage should have a high index of suspicion of DOCK8 deficiency in patients with recalcitrant eczema, and frequent respiratory and skin infectious episodes.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Fatores de Troca do Nucleotídeo Guanina/genética , Síndrome de Job/genética , Mutação , Sequenciamento Completo do Exoma/métodos , Anticorpos/sangue , Criança , Consanguinidade , DNA/sangue , Eosinofilia/imunologia , Feminino , Homozigoto , Humanos , Iraque , Japão , Arcada Osseodentária/patologia , Síndrome de Job/diagnóstico por imagem , Síndrome de Job/imunologia , Síndrome de Job/patologia , Linfopenia/imunologia , Transtornos Linfoproliferativos/genética , Linhagem
7.
JCI Insight ; 52019 04 25.
Artigo em Inglês | MEDLINE | ID: mdl-31021819

RESUMO

Bi-allelic inactivating mutations in DOCK8 cause a combined immunodeficiency characterised by severe pathogen infections, eczema, allergies, malignancy and impaired humoral responses. These clinical features result from functional defects in most lymphocyte lineages. Thus, DOCK8 plays a key role in immune cell function. Hematopoietic stem cell transplantation (HSCT) is curative for DOCK8 deficiency. While previous reports have described clinical outcomes for DOCK8 deficiency following HSCT, the effect on lymphocyte reconstitution and function has not been investigated. Our study determined whether defects in lymphocyte differentiation and function in DOCK8-deficient patients were restored following HSCT. DOCK8-deficient T and B lymphocytes exhibited aberrant activation and effector function in vivo and in vitro. Frequencies of αß T and MAIT cells were reduced while γδT cells were increased in DOCK8-deficient patients. HSCT improved, abnormal lymphocyte function in DOCK8-deficient patients. Elevated total and allergen-specific IgE in DOCK8-deficient patients decreased over time following HSCT. Our results document the extensive catalogue of cellular defects in DOCK8-deficient patients, and the efficacy of HSCT to correct these defects, concurrent with improvements in clinical phenotypes. Overall, our findings provide mechanisms at a functional cellular level for improvements in clinical features of DOCK8 deficiency post-HSCT, identify biomarkers that correlate with improved clinical outcomes, and inform the general dynamics of immune reconstitution in patients with monogenic immune disorders following HSCT.


Assuntos
Linfócitos B/imunologia , Fatores de Troca do Nucleotídeo Guanina/deficiência , Transplante de Células-Tronco Hematopoéticas , Síndrome de Job/terapia , Linfócitos T/imunologia , Adolescente , Adulto , Diferenciação Celular/genética , Diferenciação Celular/imunologia , Criança , Pré-Escolar , Humanos , Imunoglobulina E/sangue , Imunoglobulina E/imunologia , Síndrome de Job/sangue , Síndrome de Job/genética , Síndrome de Job/imunologia , Ativação Linfocitária/genética , Resultado do Tratamento , Adulto Jovem
8.
Allergol. immunopatol ; 47(2): 152-158, mar.-abr. 2019. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-180803

RESUMO

Introduction and objectives: Long-term follow up of patients with hyper IgE syndrome (HIES), as a primary immunodeficiency disorder, has been poorly investigated. This study describes common clinical and immunological features of patients with HIES in the last 10 years in Shiraz University of Medical Sciences, Shiraz, Iran. Methods and patients: In this cross-sectional study, the symptoms and medical records of 18 patients, who were diagnosed with HIES, were observed. Genetic and immunologic study was also performed. Results: Eighteen patients with the mean age of 13 years old were investigated. Ten patients were detected to have mutations in DOCK8 gene and autosomal recessive HIES (AR-HIES); and four patients were found with STAT3 mutation and autosomal dominant HIES (AD-HIES). So, 14 patients with known genetic results were considered for further data analysis. Food allergy, eczema, viral and skin infections were the major complications of AR-HIES patients. The major clinical complications of AD-HIES patients were pneumonia, skin infections and eczema. Food allergy and viral infection were significantly higher in DOCK8 deficient patients. The most common causes of hospitalization in both AR-HIES and AD-HIES patients were pneumonia, skin infections and sepsis. The most common cause of death was found to be sepsis. Conclusions; AD-HIES and AR-HIES cannot be differentiated only based on the clinical presentations. Genetic features are also necessary for better diagnosis. This study, summarizing the clinical, immunological and genetic information of the patients with AD-HIES and AR-HIES, may open a way for better diagnosis and management of HIES


No disponible


Assuntos
Humanos , Masculino , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Adulto , Hipersensibilidade Alimentar/imunologia , Síndrome de Job/imunologia , Mutação/genética , Pneumonia/imunologia , Seguimentos , Hipersensibilidade Alimentar/genética , Predisposição Genética para Doença , Fatores de Troca do Nucleotídeo Guanina/genética , Síndrome de Job/genética , Fenótipo , Pneumonia/genética , Fator de Transcrição STAT3/genética
12.
Medicine (Baltimore) ; 98(6): e14003, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30732127

RESUMO

RATIONALE: Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency presenting as two forms including autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES), which are mainly caused by mutations in STAT3 and DOCK8, respectively. To date, only about 500 cases have been reported worldwide including 37 cases in China. The spectrum and prevalence of mutations and molecular pathogenesis in HIES remain poorly understood. PATIENT CONCERNS: Here we reported two Chinese children presenting clinical manifestations of HIES. DIAGNOSIS: Based on medical history, clinical manifestations, and laboratory findings, a diagnosis of HIES was made for both children. Targeted next-generation sequencing (NGS) identified a novel heterozygous deletion of 15 bp (c.1960_1974del, p.G654_D658del or alternatively c.1966_1980del, and p.G656_D660del), and a recurrent missense mutation (c.1144C>T, p.R382W) in STAT3 in the two patients, respectively. INTERVENTIONS: The two patients have been given the successful treatment of skin infections with cefaclor. OUTCOMES: Both patients have been under follow-up for more than 6 months, with no signs of recurrent infections. LESSONS: Our results extend the spectrum of STAT3 mutations associated with ADHIES and highlight the value of targeted NGS in confirming diagnosis of genetic disorders.


Assuntos
Fatores de Troca do Nucleotídeo Guanina/genética , Síndrome de Job/genética , Fator de Transcrição STAT3/genética , Antibacterianos/uso terapêutico , Cefaclor/uso terapêutico , Criança , China , Feminino , Humanos , Síndrome de Job/complicações , Masculino , Dermatopatias Bacterianas/tratamento farmacológico , Dermatopatias Bacterianas/etiologia
13.
Pediatr Allergy Immunol ; 30(4): 469-478, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30801830

RESUMO

BACKGROUND: Hyper-IgE syndromes (HIES) are distinct diseases characterized by recurrent cutaneous and lung infections, eczema, and elevated serum IgE level. METHODS: In this study, clinical manifestations, immunologic findings, and genetic studies of all patients with HIES in the Iranian national registry database were evaluated. RESULTS: A total of 129 HIES patients with a median age of 14.0 (9.0-24.0) years were followed up for a total of 307.8 patient-years. Genetic studies showed heterozygous STAT3 mutations in 19 patients and homozygous DOCK8 mutation in 16 patients. The mean of National Institutes of Health score in STAT3-deficient patients was higher than in patients with DOCK8 mutation (P = 0.001). It was shown that the presence of pneumatocele and hematologic complication were significantly frequent in STAT3-deficient cases compared to patients with DOCK8 deficiency (P = 0.001 and P = 0.002, respectively). Moreover, the median IgE serum levels were higher in patients with STAT3 gene mutation than in patients with DOCK8 gene mutation (P = 0.02). The eosinophils' count was enhanced in patients with DOCK8 deficiency than in patients with STAT3 gene defects (P = 0.02). CONCLUSION: Specific molecular study of STAT3 and DOCK8 mutations in patients with HIES clinical phenotype could help the physician to definitively characterize the disease. Since HIES showed the highest rate of unsolved combined immunodeficiency, investigation of other genetic and environmental factors could also help in understanding the mechanism of remaining patients as well as providing strategy into therapeutic modalities.


Assuntos
Fatores de Troca do Nucleotídeo Guanina/genética , Infecções/epidemiologia , Síndrome de Job/epidemiologia , Pulmão/patologia , Mutação/genética , Fator de Transcrição STAT3/genética , Pele/patologia , Adolescente , Adulto , Criança , Estudos de Coortes , Feminino , Seguimentos , Humanos , Imunoglobulina E/sangue , Infecções/genética , Irã (Geográfico)/epidemiologia , Síndrome de Job/genética , Masculino , Adulto Jovem
14.
Allergy ; 74(9): 1691-1702, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-30793327

RESUMO

BACKGROUND: Pulmonary complications are responsible for high morbidity and mortality rates in patients with the rare immunodeficiency disorder STAT3 hyper-IgE syndrome (STAT3-HIES). The aim of this study was to expand knowledge about lung disease in STAT3-HIES. METHODS: The course of pulmonary disease, radiological and histopathological interrelations, therapeutic management, and the outcome of 14 STAT3-HIES patients were assessed. RESULTS: The patients' quality of life was compromised most by pulmonary disease. All 14 patients showed first signs of lung disease at a median onset of 1.5 years of age. Lung function revealed a mixed obstructive-restrictive impairment with reduced FEV1 and FVC in 75% of the patients. The severity of lung function impairment was associated with Aspergillus fumigatus infection and prior lung surgery. Severe lung tissue damage, with reduced numbers of ATP-binding cassette sub-family A member 3 (ABCA3) positive type II pneumocytes, was observed in the histological assessment of two deceased patients. Imaging studies of all patients above 6 years of age showed severe airway and parenchyma destruction. Lung surgeries frequently led to complications, including fistula formation. Long-term antifungal and antibacterial treatment proved to be beneficial, as were inhalation therapy, chest physiotherapy, and exercise. Regular immunoglobulin replacement therapy tended to stabilize lung function. CONCLUSIONS: Due to its severity, pulmonary disease in STAT3-HIES patients requires strict monitoring and intensive therapy.


Assuntos
Suscetibilidade a Doenças , Síndrome de Job/complicações , Síndrome de Job/metabolismo , Pneumopatias/etiologia , Pneumopatias/terapia , Fator de Transcrição STAT3/metabolismo , Adolescente , Adulto , Anti-Infecciosos/uso terapêutico , Biópsia , Criança , Terapia Combinada , Gerenciamento Clínico , Feminino , Humanos , Imuno-Histoquímica , Síndrome de Job/genética , Síndrome de Job/mortalidade , Pneumopatias/diagnóstico , Masculino , Pessoa de Meia-Idade , Prognóstico , Radiografia Torácica , Testes de Função Respiratória , Fator de Transcrição STAT3/genética , Avaliação de Sintomas , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Adulto Jovem
16.
Immunol Cell Biol ; 97(4): 368-379, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30264496

RESUMO

Hyper IgE syndromes comprise a group of rare primary immunodeficiency disorders characterized by a triad of atopic dermatitis, recurrent skin and lung infections along with elevated IgE levels. Job syndrome or autosomal dominant hyper IgE syndrome because of heterozygous loss-of-function mutations with dominant negative effect in signal transducer and activator of transcription-3 is the prototype of these disorders. However, several other genetically characterized immunodeficiency disorders have been identified over the past decade and joined the umbrella of hyper IgE syndromes including autosomal recessive mutations in the DOCK8, ZNF431 and PGM3 genes and heterozygous mutations with dominant negative effect in the CARD11 gene. Moreover, a number of phenotypically distinct immunodeficiency disorders can mimic hyper IgE syndromes, adding to the diagnostic challenge. Herein, we will concisely review these disorders, their molecular bases, highlighting key distinguishing clinical and laboratory findings and therapeutic options.


Assuntos
Síndrome de Job/genética , Genes Dominantes , Humanos , Síndrome de Job/diagnóstico , Síndrome de Job/imunologia , Síndrome de Job/terapia , Mutação/genética , Fenótipo , Fator de Transcrição STAT3/genética , Transcrição Genética
18.
Allergol Immunopathol (Madr) ; 47(2): 152-158, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30279075

RESUMO

INTRODUCTION AND OBJECTIVES: Long-term follow up of patients with hyper IgE syndrome (HIES), as a primary immunodeficiency disorder, has been poorly investigated. This study describes common clinical and immunological features of patients with HIES in the last 10 years in Shiraz University of Medical Sciences, Shiraz, Iran. METHODS AND PATIENTS: In this cross-sectional study, the symptoms and medical records of 18 patients, who were diagnosed with HIES, were observed. Genetic and immunologic study was also performed. RESULTS: Eighteen patients with the mean age of 13 years old were investigated. Ten patients were detected to have mutations in DOCK8 gene and autosomal recessive HIES (AR-HIES); and four patients were found with STAT3 mutation and autosomal dominant HIES (AD-HIES). So, 14 patients with known genetic results were considered for further data analysis. Food allergy, eczema, viral and skin infections were the major complications of AR-HIES patients. The major clinical complications of AD-HIES patients were pneumonia, skin infections and eczema. Food allergy and viral infection were significantly higher in DOCK8 deficient patients. The most common causes of hospitalization in both AR-HIES and AD-HIES patients were pneumonia, skin infections and sepsis. The most common cause of death was found to be sepsis. CONCLUSIONS: AD-HIES and AR-HIES cannot be differentiated only based on the clinical presentations. Genetic features are also necessary for better diagnosis. This study, summarizing the clinical, immunological and genetic information of the patients with AD-HIES and AR-HIES, may open a way for better diagnosis and management of HIES.


Assuntos
Hipersensibilidade Alimentar/imunologia , Síndrome de Job/imunologia , Pneumonia/imunologia , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Seguimentos , Hipersensibilidade Alimentar/genética , Predisposição Genética para Doença , Fatores de Troca do Nucleotídeo Guanina/genética , Humanos , Irã (Geográfico) , Síndrome de Job/genética , Masculino , Mutação/genética , Fenótipo , Pneumonia/genética , Fator de Transcrição STAT3/genética , Adulto Jovem
19.
Sci Rep ; 8(1): 16719, 2018 11 13.
Artigo em Inglês | MEDLINE | ID: mdl-30425284

RESUMO

In hyper-IgE syndromes (HIES), a group of primary immunodeficiencies clinically overlapping with atopic dermatitis, early diagnosis is crucial to initiate appropriate therapy and prevent irreversible complications. Identification of underlying gene defects such as in DOCK8 and STAT3 and corresponding molecular testing has improved diagnosis. Yet, in a child and her newborn sibling with HIES phenotype molecular diagnosis was misleading. Extensive analyses driven by the clinical phenotype identified an intronic homozygous DOCK8 variant c.4626 + 76 A > G creating a novel splice site as disease-causing. While the affected newborn carrying the homozygous variant had no expression of DOCK8 protein, in the index patient molecular diagnosis was compromised due to expression of altered and wildtype DOCK8 transcripts and DOCK8 protein as well as defective STAT3 signaling. Sanger sequencing of lymphocyte subsets revealed that somatic alterations and reversions revoked the predominance of the novel over the canonical splice site in the index patient explaining DOCK8 protein expression, whereas defective STAT3 responses in the index patient were explained by a T cell phenotype skewed towards central and effector memory T cells. Hence, somatic alterations and skewed immune cell phenotypes due to selective pressure may compromise molecular diagnosis and need to be considered with unexpected clinical and molecular findings.


Assuntos
Fatores de Troca do Nucleotídeo Guanina/genética , Íntrons/genética , Síndrome de Job/genética , Mutação , Sítios de Splice de RNA/genética , Sequência de Bases , Pré-Escolar , Biologia Computacional , Feminino , Regulação da Expressão Gênica/genética , Humanos , Lactente , Síndrome de Job/patologia , Técnicas de Diagnóstico Molecular , Gravidez , Fator de Transcrição STAT3/metabolismo , Transdução de Sinais/genética
20.
JCI Insight ; 3(17)2018 09 06.
Artigo em Inglês | MEDLINE | ID: mdl-30185668

RESUMO

Studies in patients with genetic defects can provide unique insights regarding the role of specific genes and pathways in humans. Patients with defects in the Th17/IL-17 axis, such as patients harboring loss-of-function STAT3 mutations (autosomal-dominant hyper IgE syndrome; AD-HIES) present with recurrent oral fungal infections. Our studies aimed to comprehensively evaluate consequences of STAT3 deficiency on the oral commensal microbiome. We characterized fungal and bacterial communities in AD-HIES in the presence and absence of oral fungal infection compared with healthy volunteers. Analyses of oral mucosal fungal communities in AD-HIES revealed severe dysbiosis with dominance of Candida albicans (C. albicans) in actively infected patients and minimal representation of health-associated fungi and/or opportunists. Bacterial communities also displayed dysbiosis in AD-HIES, particularly in the setting of active Candida infection. Active candidiasis was associated with decreased microbial diversity and enrichment of the streptococci Streptococcus oralis (S. oralis) and S. mutans, suggesting an interkingdom interaction of C. albicans with oral streptococci. Increased abundance of S. mutans was consistent with susceptibility to dental caries in AD-HIES. Collectively, our findings illustrate a critical role for STAT3/Th17 in the containment of C. albicans as a commensal organism and an overall contribution in the establishment of fungal and bacterial oral commensal communities.


Assuntos
Disbiose , Síndrome de Job/imunologia , Microbiota/imunologia , Mucosa Bucal/microbiologia , Fator de Transcrição STAT3/metabolismo , Adulto , Candida albicans , Candidíase , Cárie Dentária/microbiologia , Feminino , Humanos , Interleucina-17 , Síndrome de Job/genética , Masculino , Microbiota/genética , Pessoa de Meia-Idade , Mutação , RNA Ribossômico 16S , Fator de Transcrição STAT3/genética , Fator de Transcrição STAT3/imunologia , Streptococcus mutans , Streptococcus oralis , Células Th17 , Adulto Jovem
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