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1.
J Infect Dis ; 218(3): 485-489, 2018 07 02.
Artigo em Inglês | MEDLINE | ID: mdl-29659908

RESUMO

Human protothecosis is a rare microalgae infection, and its dissemination typically occurs in immunocompromised individuals, but no specific immune defect has been reported. Here, we describe an 8-year-old daughter of a consanguineous union with abdominal pain and bloody diarrhea for 3 months who was found to have pancolitis with numerous microalgae identified as Prototheca zopfii. In the absence of a known immunodeficiency, exome sequencing was performed, which uncovered a novel recessive frameshift mutation in CARD9 (p.V261fs). This report highlights that CARD9 deficiency should be investigated in patients with unexplained systemic/visceral protothecosis and suggests a new mechanistic insight into anti-Prototheca immunity.


Assuntos
Proteínas Adaptadoras de Sinalização CARD/genética , Candidíase Mucocutânea Crônica/complicações , Colite/genética , Colite/patologia , Prototheca/isolamento & purificação , Criança , Feminino , Mutação da Fase de Leitura , Humanos
2.
J Dermatolog Treat ; 29(5): 475-480, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29076381

RESUMO

PURPOSE: IL-17 antagonists are effective for psoriasis in clinical trials, but long-term safety is not fully characterized. Since chronic mucocutaneous candidiasis (CMC) is caused by defects in the IL-17 pathway, CMC risk data have been touted as providing reassurance about the safety of IL-17 antagonism. METHODS: We performed a literature review to identify patients with CMC and compared the prevalence of cancer in these patients to the reported 5-year prevalence. RESULTS: There was a higher prevalence of oropharyngeal (2.5% vs. 0.028%; p < .0001) and esophageal cancer (1.9% vs. 0.013%; p < .0001) in patients with CMC. There were no reports of cancer in 31 patients with CMC caused by an isolated IL-17 deficiency (IL-17F, IL-17RA, IL17RC); however, a study would need over 1000 patients to detect even a 10-fold increase in the most common malignancy of CMC patients. CONCLUSIONS: There is evidence that some forms of CMC are associated with an increase in cancer. While CMC is heterogeneous, our findings suggest that we cannot use CMC data to reassure patients on the long-term safety of IL-17 antagonists beyond the safety results from clinical trials, and perhaps caution should be taken with the development of candidiasis in patients taking these medications.


Assuntos
Candidíase Mucocutânea Crônica/patologia , Interleucina-17/antagonistas & inibidores , Candidíase Mucocutânea Crônica/complicações , Candidíase Mucocutânea Crônica/microbiologia , Neoplasias Esofágicas/complicações , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/epidemiologia , Humanos , Interleucina-17/deficiência , Interleucina-17/genética , Interleucina-17/metabolismo , Neoplasias Orofaríngeas/complicações , Neoplasias Orofaríngeas/diagnóstico , Neoplasias Orofaríngeas/epidemiologia , Prevalência
3.
Clin Immunol ; 178: 79-85, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28161409

RESUMO

Chronic mucocutaneous candidiasis, characterized by persistent or recurrent fungal infections, represents the clinical hallmark in gain-of-function (GOF) signal transducer and activator of transcription 1 (STAT1) mutation carriers. Several cases of intracranial aneurysms have been reported in patients with GOF STAT1 mutation but the paucity of reported cases likely suggested this association still as serendipity. In order to endorse this association, we link the development of intracranial aneurysms with STAT1 GOF mutation by presenting the two different cases of a patient and her mother, and demonstrate upregulated phosphorylated STAT4 and IL-12 receptor ß1 upon stimulation in patient's blood cells. We also detected increased transforming growth factor (TGF)-ß type 2 receptor expression, particularly in CD14+ cells, and a slightly higher phosphorylation rate of SMAD3. In addition, the mother of the patient developed disseminated bacille Calmette-Guérin disease after vaccination, speculating that GOF STAT1 mutations may confer a predisposition to weakly virulent mycobacteria.


Assuntos
Candidíase Mucocutânea Crônica/genética , Aneurisma Intracraniano/genética , Fator de Transcrição STAT1/genética , Adjuvantes Imunológicos/efeitos adversos , Adulto , Angiografia Digital , Vacina BCG/efeitos adversos , Candidíase Mucocutânea Crônica/complicações , Candidíase Mucocutânea Crônica/imunologia , Candidíase Mucocutânea Crônica/metabolismo , Angiografia Cerebral , Feminino , Humanos , Aneurisma Intracraniano/complicações , Aneurisma Intracraniano/diagnóstico por imagem , Aneurisma Intracraniano/metabolismo , Mães , Mutação , Fosfoproteínas/imunologia , Fosfoproteínas/metabolismo , Proteínas Serina-Treonina Quinases/imunologia , Proteínas Serina-Treonina Quinases/metabolismo , Receptor do Fator de Crescimento Transformador beta Tipo II , Receptores de Interleucina-12/imunologia , Receptores de Interleucina-12/metabolismo , Receptores de Fatores de Crescimento Transformadores beta/imunologia , Receptores de Fatores de Crescimento Transformadores beta/metabolismo , Fator de Transcrição STAT4/imunologia , Fator de Transcrição STAT4/metabolismo , Proteína Smad3/imunologia , Proteína Smad3/metabolismo , Tuberculose/induzido quimicamente , Tuberculose/imunologia , Adulto Jovem
4.
Bull Soc Pathol Exot ; 110(1): 80-84, 2017 Feb.
Artigo em Francês | MEDLINE | ID: mdl-28188605

RESUMO

Various infectious agents are classical risk factors for cancer including bacteria, viruses and parasites. There is less evidence concerning the implication of fungal infection in carcinogenesis. The role of chronic Candida infection in the development of squamous cell carcinoma has been suspected for years. Candida sp are more prevalent in potentially malignant disorder and cancer of the oral mucosa. Other epidemiological evidence of a link between Candida infection and cancer is what is observed in patients with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED). Oral and oesophagal carcinoma are frequent in these patients with chronic mucocutaneous candidiasis. Production of nitrosamine and metabolism of procarcinogen are mecanisms in which Candida sp may be involved in oral cancer development. In chromomycosis and lobomycosis chronic lesions may have a risk of malignant transformation. A diagnosis of paracoccidioidomycosis appears to increase the risk of lung cancer.


Assuntos
Micoses/complicações , Neoplasias/microbiologia , Candidíase/complicações , Candidíase/epidemiologia , Candidíase/patologia , Candidíase Mucocutânea Crônica/complicações , Candidíase Mucocutânea Crônica/patologia , Carcinoma de Células Escamosas/microbiologia , Carcinoma de Células Escamosas/patologia , Transformação Celular Neoplásica/patologia , Neoplasias Esofágicas/microbiologia , Neoplasias Esofágicas/patologia , Humanos , Neoplasias Bucais/microbiologia , Neoplasias Bucais/patologia , Micoses/epidemiologia , Micoses/patologia , Neoplasias/epidemiologia , Neoplasias/patologia , Poliendocrinopatias Autoimunes
6.
Clin Dermatol ; 34(4): 487-94, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27343964

RESUMO

Oral candidiasis (OC) is a common fungal disease encountered in dermatology, most commonly caused by an overgrowth of Candida albicans in the mouth. Although thrush is a well-recognized presentation of OC, it behooves clinicians to be aware of the many other presentations of this disease and how to accurately diagnose and manage these cases. The clinical presentations of OC can be broadly classified as white or erythematous candidiasis, with various subtypes in each category. The treatments include appropriate oral hygiene, topical agents, and systemic medications. This review focuses on the various clinical presentations of OC and treatment options.


Assuntos
Antifúngicos/uso terapêutico , Candidíase Bucal/tratamento farmacológico , Mucosa Bucal/patologia , Administração Oral , Administração Tópica , Antifúngicos/administração & dosagem , Atrofia/microbiologia , Candidíase Mucocutânea Crônica/complicações , Candidíase Mucocutânea Crônica/diagnóstico , Candidíase Bucal/complicações , Candidíase Bucal/diagnóstico , Queilite/microbiologia , Eritema/microbiologia , Glossite/microbiologia , Humanos , Hiperplasia/microbiologia
7.
Gene ; 586(2): 234-8, 2016 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-27063510

RESUMO

Recently, gain-of-function (GOF) mutations in the gene encoding signal transducer and activator of transcription 1 (STAT1) have been associated with chronic mucocutaneous candidiasis (CMC). This case report describes a 10-year-old boy presenting with signs of common variable immunodeficiency (CVID), failure to thrive, impaired neurological development, and a history of recurrent mucocutaneous Candida infections. Sequencing of the STAT1 gene identified a heterozygous missense mutation in exon 7 encoding the STAT1 coiled-coil domain (c.514T>C, p.Phe172Leu). In addition to hypogammaglobulinemia with B-cell deficiency, and a low percentage of Th17 cells, immunological analysis of the patient revealed a marked depletion of forkhead-box P3(+)-expressing regulatory T cells (Tregs). In vitro stimulation of T cells from the patient with interferon-α (IFNα) and/or IFNÉ£ resulted in a significantly increased expression of STAT1-regulated target genes such as MIG1, IRF1, MX1, MCP1/CCL2, IFI-56K, and CXCL10 as compared to IFN-treated cells from a healthy control, while no IFNα/É£-mediated up-regulation of the FOXP3 gene was found. These data demonstrate that the STAT1 GOF mutation F172L, which results in impaired stability of the antiparallel STAT1 dimer conformation, is associated with inhibited Treg cell development and neurological symptoms.


Assuntos
Imunodeficiência de Variável Comum/genética , Mutação de Sentido Incorreto , Fator de Transcrição STAT1/genética , Linfócitos T Reguladores/imunologia , Candidíase Mucocutânea Crônica/complicações , Candidíase Mucocutânea Crônica/diagnóstico , Criança , Imunodeficiência de Variável Comum/complicações , Imunodeficiência de Variável Comum/diagnóstico , Imunodeficiência de Variável Comum/imunologia , Expressão Gênica , Humanos , Masculino , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/diagnóstico , Fenótipo
8.
Clin Immunol ; 164: 1-9, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26732859

RESUMO

In gain-of-function STAT1 mutations, chronic mucocutaneous candidiasis disease (CMCD) represents the phenotypic manifestation of a complex immunodeficiency characterized by clinical and immunological heterogeneity. We aimed to study clinical manifestations, long-term complications, molecular basis, and immune profile of patients with dominant CMCD. We identified nine patients with heterozygous mutations in STAT1, including novel amino acid substitutions (L283M, L351F, L400V). High risk of azole-resistance was observed, particularly when intermittent regimens of antifungal treatment or use of suboptimal dosage occurs. We report a case of Cryptococcosis and various bacterial and viral infections. Risk of developing bronchiectasis in early childhood or gradually evolving to chronic lung disease in adolescent or adult ages emerges. Lymphopenia is variable, likely progressing by adulthood. We conclude that continuous antifungal prophylaxis associated to drug monitoring might prevent resistance to treatment; prompt diagnosis and therapy of lung disease might control long-term progression; careful monitoring of lymphopenia-related infections might improve prognosis.


Assuntos
Candidíase Mucocutânea Crônica/genética , Fator de Transcrição STAT1/genética , Adolescente , Adulto , Antifúngicos/uso terapêutico , Autoimunidade , Azóis/uso terapêutico , Infecções Bacterianas/complicações , Candidíase Mucocutânea Crônica/complicações , Candidíase Mucocutânea Crônica/tratamento farmacológico , Criança , Doença Crônica , Criptococose/complicações , Cryptococcus neoformans , Resistência a Medicamentos , Feminino , Humanos , Leishmaniose Visceral/complicações , Pneumopatias/complicações , Pneumopatias/tratamento farmacológico , Pneumopatias/genética , Linfopenia/complicações , Masculino , Pessoa de Meia-Idade , Mutação , Fosforilação , Fator de Transcrição STAT1/metabolismo , Viroses/complicações , Adulto Jovem
9.
J Allergy Clin Immunol ; 137(4): 1189-1196.e2, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26607704

RESUMO

BACKGROUND: Data on patients affected by chronic mucocutaneous candidiasis underscore the preponderant role of IL-17 receptor A (IL-17RA) in preserving mucocutaneous immunity. Little is known about the role of adenosine deaminase (ADA) 2 in regulation of immune responses, although recent reports linked ADA2 deficiency with inflammation and vasculitis. OBJECTIVE: We sought to investigate the mechanisms of chronic inflammation and vasculitis in a child lacking IL-17RA and ADA2 to identify therapeutic targets. METHODS: We report a family with 2 siblings who have had recurrent mucocutaneous infections with Candida albicans and Staphylococcus aureus and chronic inflammatory disease and vasculitis since early childhood, which were refractory to classical treatments. Array-based comparative genomic hybridization analysis showed that both siblings are homozygous for a 770-kb deletion on chr22q11.1 encompassing both IL17RA and cat eye critical region 1 (CECR1). Immunologic studies were carried out by means of flow cytometry, ELISA, and RIA. RESULTS: As expected, in the affected child we found a lack of IL-17RA expression, which implies a severe malfunction in the IL-17 signaling pathway, conferring susceptibility to recurrent mucocutaneous infections. Surprisingly, we detected an in vitro and in vivo upregulation of proinflammatory cytokines, notably IL-1ß and TNF-α, which is consistent with the persistent systemic inflammation. CONCLUSIONS: This work emphasizes the utility of whole-genome analyses combined with immunologic investigation in patients with unresolved immunodeficiency. This approach is likely to provide an insight into immunologic pathways and mechanisms of disease. It also provides molecular evidence for more targeted therapies. In addition, our report further corroborates a potential role of ADA2 in modulating immunity and inflammation.


Assuntos
Adenosina Desaminase/deficiência , Adenosina Desaminase/genética , Candidíase Mucocutânea Crônica/genética , Inflamação/genética , Peptídeos e Proteínas de Sinalização Intercelular/deficiência , Peptídeos e Proteínas de Sinalização Intercelular/genética , Receptores de Interleucina-17/deficiência , Receptores de Interleucina-17/genética , Vasculite/genética , Adenosina Desaminase/imunologia , Adolescente , Candidíase Mucocutânea Crônica/complicações , Candidíase Mucocutânea Crônica/imunologia , Criança , Pré-Escolar , Doença Crônica , Hibridização Genômica Comparativa , Evolução Fatal , Feminino , Humanos , Inflamação/complicações , Inflamação/imunologia , Peptídeos e Proteínas de Sinalização Intercelular/imunologia , Receptores de Interleucina-17/imunologia , Deleção de Sequência , Irmãos , Vasculite/complicações , Vasculite/imunologia
10.
Science ; 349(6248): 606-613, 2015 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-26160376

RESUMO

Human inborn errors of immunity mediated by the cytokines interleukin-17A and interleukin-17F (IL-17A/F) underlie mucocutaneous candidiasis, whereas inborn errors of interferon-γ (IFN-γ) immunity underlie mycobacterial disease. We report the discovery of bi-allelic RORC loss-of-function mutations in seven individuals from three kindreds of different ethnic origins with both candidiasis and mycobacteriosis. The lack of functional RORγ and RORγT isoforms resulted in the absence of IL-17A/F-producing T cells in these individuals, probably accounting for their chronic candidiasis. Unexpectedly, leukocytes from RORγ- and RORγT-deficient individuals also displayed an impaired IFN-γ response to Mycobacterium. This principally reflected profoundly defective IFN-γ production by circulating γδ T cells and CD4(+)CCR6(+)CXCR3(+) αß T cells. In humans, both mucocutaneous immunity to Candida and systemic immunity to Mycobacterium require RORγ, RORγT, or both.


Assuntos
Candida albicans/imunologia , Candidíase Mucocutânea Crônica/genética , Imunidade/genética , Membro 3 do Grupo F da Subfamília 1 de Receptores Nucleares/genética , Imunodeficiência Combinada Severa/genética , Tuberculose Bovina/genética , Tuberculose Pulmonar/genética , Alelos , Animais , Candidíase Mucocutânea Crônica/complicações , Candidíase Mucocutânea Crônica/imunologia , Bovinos , Criança , Pré-Escolar , Análise Mutacional de DNA , Exoma/genética , Feminino , Rearranjo Gênico da Cadeia alfa dos Receptores de Antígenos dos Linfócitos T , Humanos , Interferon gama/imunologia , Interleucina-17/imunologia , Camundongos , Mutação , Mycobacterium bovis/imunologia , Mycobacterium bovis/isolamento & purificação , Mycobacterium tuberculosis/imunologia , Mycobacterium tuberculosis/isolamento & purificação , Linhagem , Receptores de Antígenos de Linfócitos T alfa-beta/genética , Receptores de Antígenos de Linfócitos T alfa-beta/imunologia , Receptores de Antígenos de Linfócitos T gama-delta/genética , Receptores de Antígenos de Linfócitos T gama-delta/imunologia , Linfócitos T/imunologia , Timo/anormalidades , Timo/imunologia , Tuberculose Bovina/imunologia , Tuberculose Pulmonar/imunologia
11.
An. pediatr. (2003, Ed. impr.) ; 82(1): e60-e63, ene. 2015. ilus
Artigo em Espanhol | IBECS | ID: ibc-131671

RESUMO

Los síndromes poliglandulares autoinmunes son raras endocrinopatías en las que coexisten alteraciones de las glándulas endocrinas, basadas en mecanismos autoinmunes con otras enfermedades no endocrinas. En el tipo 1, las manifestaciones características son la candidiasis mucocutánea crónica, el hipoparatiroidismo y la insuficiencia suprarrenal. Presentamos a una paciente que presenta la secuencia clínica típica, junto con otras alteraciones, realizando estudio genético del gen autoimmune regulator (AIRE), detectándose una mutación en homocigosis, C322fsX372. La herencia es autonómica recesiva, asociada a mutaciones en el gen AIRE, el cual codifica una protei′na que interviene en procesos de autoinmunidad e inmunodeficiencia. Para el diagnóstico, se requieren al menos 2 de las 3 manifestaciones clínicas principales, aunque en el estudio de familiares de pacientes afectados solo se requiere una de ellas. Estos síndromes deben ser diagnosticados en etapas tempranas, dada su alta morbimortalidad. Es necesario tratar cada una de las alteraciones, con el objetivo de preservar la calidad de vida (AU)


Polyglandular autoimmune syndromes are rare diseases based on autoimmune mechanisms in which endocrine and non-endocrine disorders coexist. In type 1 the characteristic manifestations are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. A case is presented of a patient with typical clinical sequence, along with other changes, and in whom a mutation in homozygosis, C322fsX372, was detected after performing a molecular analysis of autoimmunity regulator gene (AIRE). Polyglandular autoimmune syndromes are rare diseases based on autoimmune mechanisms in which endocrine and non-endocrine disorders coexist. In type 1 the characteristic manifestations are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. A case is presented of a patient with typical clinical sequence, along with other changes, and in whom a mutation in homozygosis, C322fsX372, was detected after performing a molecular analysis of autoimmunity regulator gene (AIRE) (AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Poliendocrinopatias Autoimunes/complicações , Poliendocrinopatias Autoimunes/diagnóstico , Doenças do Sistema Endócrino/induzido quimicamente , Doenças do Sistema Endócrino/diagnóstico , Candidíase Mucocutânea Crônica/diagnóstico , Candidíase Mucocutânea Crônica/metabolismo , Hipotireoidismo Congênito/diagnóstico , Poliendocrinopatias Autoimunes/genética , Poliendocrinopatias Autoimunes/metabolismo , Doenças do Sistema Endócrino/complicações , Doenças do Sistema Endócrino/prevenção & controle , Candidíase Mucocutânea Crônica/complicações , Hipotireoidismo Congênito/complicações
12.
Allergy Asthma Proc ; 35(5): 415-22, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25295810

RESUMO

As immunologists, we are frequently asked to evaluate patients with recurrent infections. These infections can provide us with clues regarding what pathways might be aberrant in a given patient, e.g., specific pyogenic bacteria with Toll-like receptor problems, atypical mycobacteria with interferon gamma receptor autoantibodies, and Candida/staphylococcal infections with cellular immune abnormalities. We present a 55-year-old man who presented to our immunology clinic with onychodystrophy of the toenails and fingernails and recurrent oral-esophageal candidiasis. The differential diagnosis for recurrent yeast infections is complex and includes usual suspects as well as some that are not as straightforward.


Assuntos
Candidíase/diagnóstico , Candidíase/microbiologia , Candida , Candidíase/complicações , Candidíase Mucocutânea Crônica/complicações , Candidíase Mucocutânea Crônica/diagnóstico , Candidíase Mucocutânea Crônica/microbiologia , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade , Timoma/complicações , Timoma/diagnóstico , Timoma/cirurgia , Tomografia Computadorizada por Raios X , Resultado do Tratamento
13.
J Clin Immunol ; 32(6): 1213-20, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22847544

RESUMO

PURPOSE: To describe a case of autosomal-dominant (AD)-chronic mucocutaneous candidiasis (CMC) with a signal transducer and activator of transcription (STAT) 1 gene mutation, and some of the important complications of this disease such as chronic hepatitis. METHODS: We present a 23-year-old woman with CMC, chronic active hepatitis, and hypothyroidism. Her father also had CMC. We performed several immunological analyses of blood and liver samples, and searched for gene mutations for CMC in the patient and her father. RESULTS: We identified the heterozygous substitution c.821 G > A (p.Arg274Gln) in the STAT1 gene of both the patient and her father. The level of ß-glucan induced interferon (IFN)-γ in her blood cells was significantly low. Immunoblot analysis detected serum anti-interleukin (IL)-17 F autoantibody. She was found to have increased (low-titer) antibodies related to her hypothyroidism and hepatitis. Her serum IL-18 levels fluctuated with her AST and ALT levels. Liver biopsy revealed CD68-positive cell infiltration and IL-18 expression in the sinusoidal regions. These results suggest that the chronic active hepatitis in this patient may be exacerbated by the excessive IL-18 accumulation caused by recurrent mucocutaneous fungal infection, and decreased IFN-γ production. CONCLUSIONS: AD-CMC is known to be caused by a gain-of-function mutation of the STAT1 gene. Chronic active hepatitis is a rare complication of AD-CMC, with currently unknown pathogenesis. It seems that the clinical phenotype in this patient is modified by autoimmune mechanisms and cytokine dysregulation. AD-CMC can be complicated by various immune disorders including autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.


Assuntos
Candidíase Mucocutânea Crônica/genética , Hepatite Autoimune/genética , Hipotireoidismo/genética , Mutação , Fator de Transcrição STAT1/genética , Adulto , Biópsia , Candidíase Mucocutânea Crônica/complicações , Candidíase Mucocutânea Crônica/imunologia , Candidíase Mucocutânea Crônica/patologia , Doença Crônica , Citocinas/genética , Citocinas/imunologia , Feminino , Genes Dominantes , Hepatite Autoimune/complicações , Hepatite Autoimune/imunologia , Hepatite Autoimune/patologia , Humanos , Hipotireoidismo/complicações , Hipotireoidismo/imunologia , Hipotireoidismo/patologia , Imuno-Histoquímica , Fator de Transcrição STAT1/imunologia , Hormônios Tireóideos/genética , Hormônios Tireóideos/imunologia
15.
Arch Iran Med ; 15(7): 452-4, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22724885

RESUMO

Although fungal brain infections are not uncommon, intracranial granulomas due to fungi are rare. Immunodeficiency is considered to be the main predisposing factor.  We have presented the case of a 21-year-old lady admitted to the emergency ward with the clinical picture of impending brain herniation. She was a known case of chronic mucocutaneous candidiasis (CMCC) since childhood and had been under oral topical nystatin treatment which she had arbitrarily discontinued for the past ten years. The patient underwent emergent craniotomy and resection of the lesion. Pathologic exam revealed its fungal granulomatous nature. Cultures documented Candida albicans as the offending pathogen. The history of immunodeficiency was a useful clue in this case.  To the best of our knowledge, this was the first case of fungal granuloma of the brain in the setting of chronic mucocutaneous candidiasis.


Assuntos
Encefalopatias/etiologia , Candidíase Mucocutânea Crônica/complicações , Granuloma/etiologia , Adulto , Feminino , Humanos
16.
Med Mycol ; 50(4): 399-403, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-21988702

RESUMO

Chronic mucocutaneous candidiasis (CMC) is characterized by susceptibility to Candida infection of skin, nails, and mucous membranes. Autoimmune endocrinopathies are common in CMC patients, but there are no reports of the involvement of systemic autoimmune disorders. We present here the first case of this kind of association in a patient with an autosomal dominant variant of CMC. The individual had had this disorder since childhood and systemic lupus erythematosus with secondary antiphospholipid syndrome, as well as renal, articular and hepatic manifestations without thymoma.


Assuntos
Candidíase Mucocutânea Crônica/complicações , Candidíase Mucocutânea Crônica/patologia , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/patologia , Adulto , Esofagoscopia , Esôfago/patologia , Feminino , Pé/patologia , Humanos , Couro Cabeludo/patologia , Pele/patologia
18.
An. pediatr. (2003, Ed. impr.) ; 75(1): 26-32, jul. 2011. tab
Artigo em Espanhol | IBECS | ID: ibc-90163

RESUMO

Introducción: En las últimas décadas, la supervivencia en las enfermedades hemato-oncológicas infantiles ha aumentado gracias a la mejora de los tratamientos, con regímenes quimioterápicos más agresivos. Esto ha conducido a un aumento en la incidencia de infecciones graves, con la consecuente morbimortalidad. La candidiasis hepatoesplénica es una infección diseminada por Candida que suele afectar más frecuentemente al hígado y bazo, aunque pueden verse involucrados otros órganos. Pacientes y métodos: Se ha realizado un estudio retrospectivo de 13 pacientes pediátricos diagnosticados de candidiasis hepatoesplénica desde enero de 2002 a febrero de 2010 en el Servicio de Hemato-Oncología pediátrica del Hospital Niño Jesús de Madrid siguiendo los criterios propuestos por la EORTC/MSG (European Organization for Research and Treatment of Cancer and Mycoses Study Group) revisados en el 2008. Se analizaron las características clínicas, los métodos diagnósticos, el tratamiento realizado y la evolución posterior. Resultados: El síntoma más frecuente de presentación de la candidiasis hepatoesplénica en nuestra serie fue la fiebre persistente, hasta en un 84,6% de los casos, en casi todos, asociada a algún otro síntoma. Los factores de riesgo para desarrollarla son bastante inespecíficos y estaban presentes hasta en un 92,3% de nuestros pacientes. El diagnóstico de infección probada, que se realiza mediante histología o cultivos, normalmente es difícil de obtener y sólo se logró obtener en nuestro caso en un 23,1%. La mayoría de las veces, como en nuestra serie, sólo se llega a un diagnóstico de sospecha. Las pruebas de laboratorio no tienen utilidad en la población pediátrica y tan sólo en un paciente se apreció aumento de la fosfatasa alcalina al diagnóstico. Este resultado difiere del comportamiento de este marcador biológico en los adultos. Aunque suelen ser necesarios tratamientos prolongados para la resolución de las lesiones, la supervivencia es muy alta, en nuestra serie un 100%, con un tratamiento adecuado. Conclusión: La mortalidad de la candidiasis hepatoesplénica es baja si se realiza un tratamiento precoz y adecuado (AU)


Introduction: In the last few decades, the survival of children with haematology-oncological malignancies has increased due to more aggressive chemotherapy regimens. This has led to an increase of fungal infections causing significant morbidity and mortality in these patients. Hepatosplenic candidiasis is a disseminated candida infection that affects most commonly the liver and spleen, although other organs may be involved. Patients and methods: We performed a retrospective study of 13 paediatric patients diagnosed with hepatosplenic candidiasis from January 2002 to February 2010 in our paediatric haematology-oncology department following the criteria proposed by the EORTC/MSG (European Organization for Research and Treatment of Cancer and Mycoses study group) updated in2008. We analysed the clinical characteristics, diagnostic methods, treatment and outcome. Results: The most common symptom of presentation of hepatosplenic candidiasis in our series was persistent fever, up 84.6% of cases, almost all associated with other symptoms. Risk factors for development are non-specific and were present in 92.3% of our patients. The diagnosis of proven infection, which is made by histology or culture, is usually difficult to obtain and in our series it was obtained only in 23.1% of cases. As in our series, diagnosis is often presumptive. Laboratory tests are not useful in the paediatric population and only in one patient we observed an increase in alkaline phosphatase at diagnosis. This result differs from the behaviour of this biological marker in adults. Although prolonged treatment is often necessary for the resolution of the lesions, survival is high with appropriate treatment, 100% in our series. Conclusions: The mortality of hepatosplenic candidiasis is low with early and adequate treatment (AU)


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Neutropenia/patologia , Esplenopatias/complicações , Candida/isolamento & purificação , Candidíase/epidemiologia , Candidíase Mucocutânea Crônica/complicações , Candidíase Mucocutânea Crônica/patologia , Neutropenia/complicações , Indicadores de Morbimortalidade , Estudos Retrospectivos , Biomarcadores/análise , Candidíase/mortalidade , Candidíase/prevenção & controle
19.
J Allergy Clin Immunol ; 126(5): 1006-15, 1015.e1-4, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20934207

RESUMO

BACKGROUND: Accumulating evidence implicates T(H)17 cytokines in protection against Candida species infections, but the clinical relevance is not clear. Chronic mucocutaneous candidiasis (CMC) is a heterogeneous syndrome with the unifying feature of selective susceptibility to chronic candidiasis. Different subgroups with distinct clinical features are recognized, including autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), CMC with hypothyroidism, and isolated CMC. Understanding immune defects in patients with CMC will define cellular and molecular mechanisms crucial for protection against Candida species in human subjects. OBJECTIVES: We sought to determine whether impaired T(H)17 responses underlie susceptibility to Candida species infections and whether the same defect is present in different CMC subgroups. METHODS: We assessed T(H)17 responses of PBMCs to Candida and non-Candida species stimuli by measuring IL-17, IL-22, IL-21, IL-6, IL-23, and IFN-γ cytokine production using cytokine arrays and intracellular cytokine-producing cell numbers and proliferation with flow cytometry. PBMCs from healthy subjects and unaffected family members served as controls. RESULTS: In patients with CMC with hypothyroidism, T(H)17 cells demonstrated decreased proliferation and IL-17 production in response to Candida species. In contrast, in patients with APECED, T(H)17 cell proliferation and IL-17 production were normal unless exposed to APECED plasma, which inhibited both functions in both APECED and normal PBMCs. Candida species-stimulated IL-22 production was impaired in all patients with CMC, whereas IL-6 and IL-23 responses were unaltered. CONCLUSION: An impaired T(H)17 response to Candida species, although mediated by different mechanisms, was present in all CMC subgroups studied and might be a common factor predisposing to chronic candidiasis.


Assuntos
Candidíase Mucocutânea Crônica/complicações , Candidíase Mucocutânea Crônica/imunologia , Poliendocrinopatias Autoimunes/complicações , Poliendocrinopatias Autoimunes/imunologia , Células Th17/imunologia , Candidíase Mucocutânea Crônica/genética , Separação Celular , Citocinas/biossíntese , Citocinas/imunologia , Ensaio de Imunoadsorção Enzimática , Feminino , Citometria de Fluxo , Predisposição Genética para Doença/genética , Humanos , Masculino , Mutação , Linhagem , Poliendocrinopatias Autoimunes/genética , Fatores de Transcrição/genética
20.
Arch Iran Med ; 13(4): 282-7, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20597560

RESUMO

BACKGROUND: Mucocutaneous candidiasis (almost endogenous) is one of the most common manifestations of human immunodeficiency virus (HIV) infection. The aim of this study was the investigation of colonization patterns of Candida species, particularly C. dubliniensis, among mucosal sites of HIV-positive patients and determining corresponding in vitro susceptibility patterns to the antifungals. METHODS: From July 2006 to May 2008, specimens from the mucosal sites of 273 seropositive HIV patients were collected for Candida colonization. All isolates were identified by standard methods and carbohydrate assimilation patterns. Isolates phenotypically identified as C. albicans or C. dubliniensis were subjected to molecular identification. Susceptibility patterns of the isolated species to seven antifungal agents were determined using the broth microdilution method. RESULTS: The 359 samples from mucosal sites which consisted of 273 oral and 86 vaginal were collected and evaluated for Candida species distributions and their corresponding susceptibility patterns. The most commonly isolated species were: C. albicans (50%) followed by C. glabrata (21.4%), C. dubliniensis (13.3%, reported for the first time in Iran), C. krusei (9.8%), C. kefyr (3.1%), C. parapsilosis (1.6%), and C. tropicalis (0.8%). All species were sensitive to amphotencin B, ketoconazole, nystatin, voriconazole, and caspofungin. In some isolates, resistance to fluconazole and itraconazole was noted. CONCLUSION: As demonstrated, resistance to fluconazole and itraconazole, the most frequent antifungals in use in the region suggests regular investigation into antifungal resistance in medical centers should be undertaken in order to promote the effective management of invasive candidiasis in HIV/AIDS patients.


Assuntos
Antifúngicos/farmacologia , Candida/efeitos dos fármacos , Candidíase Mucocutânea Crônica/microbiologia , Soropositividade para HIV/complicações , Mucosa Intestinal/microbiologia , Mucosa Respiratória/microbiologia , Vagina/microbiologia , Adulto , Idoso , Anticorpos Antifúngicos/análise , Western Blotting , Candida/genética , Candida/imunologia , Candidíase Mucocutânea Crônica/complicações , Candidíase Mucocutânea Crônica/tratamento farmacológico , Estudos Transversais , DNA Fúngico/análise , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Masculino , Testes de Sensibilidade Microbiana , Pessoa de Meia-Idade , Prevalência , Prognóstico , Estudos Retrospectivos , Adulto Jovem
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