ChronicMucocutaneousCandidiasis Due to STAT1 Gene Variant. This case report describes a man in his 40s who presented with a 5-month history of recurrent pruritic papular erythema with mild scaling on the face, left forearm, and groin.
Case Report: Coinfection of Leprosy and ChronicMucocutaneousCandidiasis in a Family with STAT1 Gain-of-Function Mutation. This report documents the first known cases of lepromatous leprosy in patients with chronicmucocutaneouscandidiasis (CMC) linked to a gain-of-function mutation in the STAT1 gene. Two related patients, a mother and daughter, who both suffer from CMC and lepromatous leprosy
Human STAT1 gain of function with chronicmucocutaneouscandidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research. Germline human heterozygous STAT1 gain-of-function (GOF) variants were first discovered a common cause of chronicmucocutaneouscandidiasis (CMC) in 2011. Since then, numerous STAT1 GOF variants have been identified
IL-17 serum level in patients with chronicmucocutaneouscandidiasis disease. Chronicmucocutaneouscandidiasis (CMC) is defined by recurrent or persistent superficial infections involving nails, skin, and/or oral and genital mucosae. IL-17 promotes the recruitment, chemotaxis, and expansion of neutrophils and acts directly on keratinocytes and epithelial cells, driving the production
Molecular mechanism of azoles resistant Candida albicans in a patient with chronicmucocutaneouscandidiasis. More and more azole-resistant strains emerged through the development of acquired resistance and an epidemiological shift towards inherently less susceptible species. The mechanisms of azoles resistance of Candida albicans is very complicated. In this study, we aim to investigate the mechanism of azole-resistant C. albicans isolated from the oral cavity of a patient with chronicmucocutaneouscandidiasis (CMC). CMC diagnosis was given based on clinical manifestations, laboratory test findings and gene sequencing technique. Minimum inhibitory concentration (MIC) of the fungal isolate, obtained from oral cavity termed as CA-R, was obtained by in vitro anti-fungal drugs susceptibility
Vessel wall MRI revealing inflammation on brain aneurysm associated to chronicmucocutaneouscandidiasis. Some authors have reported the association between CMC and brain aneurysms. In this paper it is reported a fusiform brain aneurysm associated to CMC and the vessel wall MRI findings.
Chronicmucocutaneouscandidiasis: what can we conclude about IL-17 antagonism? IL-17 antagonists are effective for psoriasis in clinical trials, but long-term safety is not fully characterized. Since chronicmucocutaneouscandidiasis (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. We performed
Gain-of-Function Mutations in STAT1: A Recently Defined Cause for ChronicMucocutaneousCandidiasis Disease Mimicking Combined Immunodeficiencies ChronicMucocutaneousCandidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory
Disseminated Tuberculosis and ChronicMucocutaneousCandidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1 In humans, recessive loss-of-function mutations in are associated with mycobacterial and viral infections, whereas gain-of-function (GOF) mutations in are associated with a type of primary immunodeficiency related mainly , but not exclusively, to chronicmucocutaneouscandidiasis (CMC). We studied and established a molecular diagnosis in a pediatric patient with mycobacterial infections, associated with CMC. The patient, daughter of a non-consanguineous mestizo Mexican family, had axillary adenitis secondary to BCG vaccination and was cured with resection of the abscess at 1-year old. At the age of 4 years, she had a supraclavicular
A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes ChronicMucocutaneousCandidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation Chronicmucocutaneouscandidiasis (CMC) is a primary immunodeficiency characterized by persistent or recurrent skin and mucosal surface infections with species. Different gene mutations leading to CMC have been identified
Genetic, Immunological, and Clinical Features of Patients with ChronicMucocutaneousCandidiasis: A systematic review PROSPEROInternational prospective register of systematic reviews Print | PDFGenetic, Immunological, and Clinical Features of Patients with ChronicMucocutaneousCandidiasis: A systematic reviewWuping You, Yunfei AnTo enable PROSPERO to focus on COVID-19 submissions , and Clinical Features of Patients with ChronicMucocutaneousCandidiasis: A systematic review. PROSPERO 2024 CRD42024514166 Available from: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42024514166Review questionWhat are the genetic, immunological, and clinical characteristics of patients with chronicmucocutaneouscandidiasis?SearchesSources: PubMed, EMBASE, Web of Science, Scopus
Th2 and Th9 responses in patients with ChronicMucocutaneousCandidiasis and Hyper IgE syndrome. STAT1 mutations cause chronicmucocutaneouscandidiasis (CMC), while STAT3 mutations cause hyper-IgE syndrome (HIES). CMC and HIES patients have T helper (Th) 17 defects suffering from mucosal Candida infections, but only patients with HIES show an allergic phenotype with eczema, eosinophilia
Treatment options for chronicmucocutaneouscandidiasis. Autosomal dominant chronicmucocutaneouscandidiasis (AD-CMC) is a rare and severe primary immunodeficiency that is characterized by mucocutaneous fungal infection, autoimmunity, cerebral aneurysms, and oropharyngeal and esophageal cancer. Recently, it was discovered that STAT1 mutations are responsible for AD-CMC. These mutations lead
Clinical and immunological data of nine patients with chronicmucocutaneouscandidiasis disease This paper describes the heterogeneous clinical phenotype of a cohort of nine patients diagnosed with heterozygous mutations in STAT1. We report data of extended immunophenotyping over time and we show lung damage in four patients. The increased phosphorylation of STAT1 in response to IFNγ and IFNα stimulation proves the gain-of-function nature of the defects. The data are supplemental to our original article concurrently published "Clinical heterogeneity of dominant chronicmucocutaneouscandidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease" [1], where additional results and interpretation of our research can be found.
Chronicmucocutaneouscandidiasis: characterization of a family with STATâ€1 gainâ€ofâ€function and development of an exâ€vivo assay for Th17 deficiency of diagnostic utility Chronicmucocutaneouscandidiasis (CMC) is characterized by recurrent and persistent superficial infections, with Candida albicans affecting the mucous membranes, skin and nails. It can be acquired or caused by primary
Clonal Strain Persistence of Candida albicans Isolates from ChronicMucocutaneousCandidiasis Patients Chronicmucocutaneouscandidiasis (CMC) is a primary immunodeficiency disorder characterised by susceptibility to chronic Candida and fungal dermatophyte infections of the skin, nails and mucous membranes. Molecular epidemiology studies of CMC infection are limited in number and scope
Chronicmucocutaneouscandidiasis disease associated with inborn errors of IL-17 immunity Chronicmucocutaneouscandidiasis (CMC) is characterized by recurrent or persistent infections affecting the nails, skin and oral and genital mucosae caused by spp., mainly . CMC is an infectious phenotype in patients with inherited or acquired T-cell deficiency. Patients with autosomal-dominant (AD) hyper
The Extended Clinical Phenotype of 26 Patients with ChronicMucocutaneousCandidiasis due to Gain-of-Function Mutations in STAT1 Gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) result in unbalanced STAT signaling and cause immune dysregulation and immunodeficiency. The latter is often characterized by the susceptibility to recurrent Candida infections, resulting in the clinical picture of chronicmucocutaneouscandidiasis (CMC). This study aims to assess the frequency of GOF STAT1 mutations in a large international cohort of CMC patients. STAT1 was sequenced in genomic DNA from 57 CMC patients and 35 healthy family members. The functional relevance of nine different STAT1 variants was shown by flow cytometric analysis of STAT1 phosphorylation
Inherited IL-17RC deficiency in patients with chronicmucocutaneouscandidiasis. Chronicmucocutaneouscandidiasis (CMC) is characterized by recurrent or persistent infections of the skin, nail, oral, and genital mucosae with Candida species, mainly C. albicans. Autosomal-recessive (AR) IL-17RA and ACT1 deficiencies and autosomal-dominant IL-17F deficiency, each reported in a single kindred
Evaluating IL-17 Signaling Deficiencies Related to ChronicMucocutanousCandidiasis PROSPEROInternational prospective register of systematic reviews Print | PDFEvaluating IL-17 Signaling Deficiencies Related to Chronic Mucocutanous CandidiasisMallory Zaino, Steven Feldman, Verda MirzaTo enable PROSPERO to focus on COVID-19 submissions, this registration record has undergone basic automated to ChronicMucocutanousCandidiasis. PROSPERO 2022 CRD42022384733 Available from: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42022384733Review questionHow is IL-17 signaling deficiency related to chronicmucocutaneouscandidiasis?SearchesMEDLINE PubMed, Embase, Web of ScienceTypes of study to be includedIncluding:1. Primary research methodologies (e.g. case reports, observational studies