1,102 results match your criteria Candidiasis Chronic Mucocutaneous

gene mutation predisposing chronic mucocutaneous candidiasis and pigmented retinitis in two kids from a Chinese family.

Emerg Microbes Infect 2022 Jun 20:1-4. Epub 2022 Jun 20.

Department of Dermatology and Venerology, Peking University First Hospital.

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Efficacy of Cochleated Amphotericin B in Mouse and Human Mucocutaneous Candidiasis.

Antimicrob Agents Chemother 2022 Jun 14:e0030822. Epub 2022 Jun 14.

Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.

Candida albicans causes debilitating, often azole-resistant, infections in patients with chronic mucocutaneous candidiasis (CMC). Amphotericin B (AMB) resistance is rare, but AMB use is limited by parenteral administration and nephrotoxicity. In this study, we evaluated cochleated AMB (CAMB), a new oral AMB formulation, in mouse models of oropharyngeal candidiasis (OPC) and vulvovaginal candidiasis (VVC) and in patients with azole-resistant CMC. Read More

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Utility of ruxolitinib in a patient with chronic mucocutaneous candidiasis caused by STAT1 gain-of-function mutation.

J Eur Acad Dermatol Venereol 2022 Jun 13. Epub 2022 Jun 13.

Bordeaux university hospital, 33000, Bordeaux, France.

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Clinical and Genetic Characteristics of Ectodermal Dysplasia in Four Indian Children.

Indian J Dermatol 2022 Jan-Feb;67(1):54-57

Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Introduction: Ectodermal dysplasias (EDs) affect structures derived from the ectoderm such as skin, its appendages, nail, and teeth. In this series, we describe four patients presenting with a clinical phenotype of dysplasia of one or more ectodermal structures who underwent next-generation sequencing for mutational analysis.

Case Series: The clinical phenotype of three patients was hypohidrotic ectodermal dysplasia (HED) and one patient was diagnosed with autoimmune polyglandular syndrome (APS) type 1. Read More

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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and esophageal rupture by candida infection: A case report and review.

J Mycol Med 2022 May 10;32(3):101293. Epub 2022 May 10.

Adjunct Professor of Clinical Mycology and Supervised Internship at State University of Centro-Oeste (UNICENTRO-Paraná).

We probably describe the first report of esophageal rupture in a patient with autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy (APECED, OMIM # 240300), who had candida esophagitis as the main feature for decades. Strong evidence shows that this rupture may have been caused directly and indirectly by chronic candidiasis. In this way, we demonstrate how severe and harmful the persistent esophageal candidiasis can cause in the esophagus, especially in immunodeficient patients. Read More

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CARD9 Deficiency in Combination with Invasive Infection by Exophiala Dermatitidis in a Pediatric Patient.

Mycopathologia 2022 Jun 10;187(2-3):299-303. Epub 2022 May 10.

Department of Laboratory Medicine, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.

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A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain-of-function mutation: A case report and review of the literature.

Clin Case Rep 2022 Apr 26;10(4):e05791. Epub 2022 Apr 26.

Department of Pediatrics Umm Al-Qura University Makkah Saudi Arabia.

STAT 1 GOF mutations are a rare cause of childhood primary immunodeficiency. Recurrent mucocutaneous candidiasis, chest infections, and autoimmune disease are all classic phenotype presentations. Rapid identification and diagnosis of this debilitating disease using whole exon sequencing may improve outcomes and minimize long-term sequelae. Read More

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Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.

J Clin Immunol 2022 Apr 29. Epub 2022 Apr 29.

Laboratorio de Alteraciones Congénitas de La Inmunidad, Instituto de Biomedicina de Sevilla (IBiS), Laboratorio 205, Seville, Spain.

Introduction: Since the first description of gain of function (GOF) mutations in signal transducer and activator of transcription (STAT) 1, more than 300 patients have been described with a broad clinical phenotype including infections and severe immune dysregulation. Whilst Jak inhibitors (JAKinibs) have demonstrated benefits in several reported cases, their indications, dosing, and monitoring remain to be established.

Methods: A retrospective, multicenter study recruiting pediatric patients with STAT1 GOF under JAKinib treatment was performed and, when applicable, compared with the available reports from the literature. Read More

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Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia-Case Series.

Genes (Basel) 2022 03 22;13(4). Epub 2022 Mar 22.

Department of Pediatrics, University Hospital of Split, Spinciceva 1, 21000 Split, Croatia.

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare monogenetic autosomal recessive disorder caused by a mutation in the autoimmune regulator () gene characterized by complex phenotypic characteristics discovered over years of follow-up.

Methods: 7 patients were recruited in this case series in a period of the last 37 years from Southern Croatia. All patients were screened for R257X mutations. Read More

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A mycobacterium fortuitum infection in chronic mucocutaneous candidiasis.

Pediatr Int 2022 01;64(1):e15166

Division of Immunology, National Center for Child Health and Development, Tokyo, Japan.

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January 2022

Human autoantibodies underlying infectious diseases.

J Exp Med 2022 04 23;219(4). Epub 2022 Mar 23.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut national de la santé et de la recherche médicale, Necker Hospital for Sick Children, Paris, France.

The vast interindividual clinical variability observed in any microbial infection-ranging from silent infection to lethal disease-is increasingly being explained by human genetic and immunological determinants. Autoantibodies neutralizing specific cytokines underlie the same infectious diseases as inborn errors of the corresponding cytokine or response pathway. Autoantibodies against type I IFNs underlie COVID-19 pneumonia and adverse reactions to the live attenuated yellow fever virus vaccine. Read More

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Chronic Mucocutaneous Candidiasis due to Signal Transducer and Activator of Transcription 1 () Mutation in an Indian Patient - A Case Report.

Indian Dermatol Online J 2022 Jan-Feb;13(1):90-93. Epub 2022 Jan 24.

Department of Microbiology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.

Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency due to defect in various genes leading to an increase in susceptibility to skin and mucosal infection. Mutation in signal transducer and activator of transcription 1 () gene being the most common cause of CMC can lead to increased risk of infections, multisystem abnormalities, and malignancy. We describe a 27 year old Indian woman with clinical features of CMC including esophageal stenosis, gangrene of the finger, endocrinological and immunological abnormalities and mutation (p. Read More

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January 2022

Oral manifestations of autoimmune polyglandular syndrome type 1.

Spec Care Dentist 2022 Feb 19. Epub 2022 Feb 19.

Department of Stomatology, Special Care Dentistry Center, University of São Paulo, São Paulo, Brazil.

Aims: Autoimmune polyglandular syndrome type I (APS-I) is a rare condition of autosomal recessive and monogenic inheritance, which is characterized clinically by at least two signs of the classic triad: mucocutaneous candidosis, hypoparathyroidism, and Addison's disease. This study aims to report the oral manifestations of APS-I in a 42-year-old woman, who attended the Special Care Dentistry Center.

Methods And Results: The patient presented with hypoparathyroidism, diabetes mellitus, and autoimmune hepatitis. Read More

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February 2022

CARD9 Regulation and its Role in Cardiovascular Diseases.

Int J Biol Sci 2022 1;18(3):970-982. Epub 2022 Jan 1.

Pediatric Research Institute, Department of Pediatrics, University of Louisville, Louisville, KY, 40202, USA.

Caspase recruitment domain-containing protein 9 (CARD9) is an adaptor protein expressed on myeloid cells and located downstream of pattern recognition receptors (PRRs), which transduces signals involved in innate immunity. CARD9 deficiency is associated with increased susceptibility to various fungal diseases. Increasing evidence shows that CARD9 mediates the activation of p38 MAPK, NF-κB, and NLRP3 inflammasome in various CVDs and then promotes the production of proinflammatory cytokines and chemokines, which contribute to cardiac remodeling and cardiac dysfunction in certain cardiovascular diseases (CVDs). Read More

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Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant.

Front Immunol 2022 20;13:801832. Epub 2022 Jan 20.

Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.

Background: STAT1 gain-of-function (GOF) is a primary immune dysregulatory disorder marked by wide infectious predisposition (most notably chronic mucocutaneous Candidiasis), autoimmunity, vascular disease and malignant predisposition. While atopic features have been described in some STAT1 GOF patients, they are not considered a predominant feature of the disease. Additionally, while eosinophilic gastrointestinal infiltration has been reported in some cases, this has always been described in the context of pre-existing oropharyngeal and/or esophageal Candidiasis. Read More

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Mucocutaneous and cutaneous generalized candidiasis in a thymectomized dog.

Med Mycol Case Rep 2022 Mar 19;35:39-42. Epub 2022 Jan 19.

Istituto Veterinario di Novara, S.P.9 Granozzo con Monticello, 28060, Novara, Italy.

Cutaneous candidiasis is usually related to immunosuppressive diseases and/or therapies as predisposing factors. In humans, chronic mucocutaneous candidiasis (CMC) is observed with thymoma and thymectomy. In this case report we describe the clinical and pathological findings, laboratory analysis, treatment, and follow-up of a thymectomized dog with cutaneous and mucocutaneous generalized candidiasis. Read More

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Rheumatologic diseases in patients with inborn errors of immunity in the USIDNET registry.

Clin Rheumatol 2022 Jul 31;41(7):2197-2203. Epub 2022 Jan 31.

Department of Pediatrics, College of Medicine, Umm Al-Qura University, Mecca, Saudi Arabia.

There is a gap in clinical knowledge regarding associations between specific inborn errors of immunity (IEIs) and rheumatologic diseases. This study reports the frequency of rheumatologic conditions in a large cohort of patients with IEI using the USIDNET (United States Immunodeficiency Network) registry. We used the USIDNET registry to conduct the analysis. Read More

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Chronic mucocutaneous candidiasis.

Orv Hetil 2022 01 30;163(5):171-180. Epub 2022 Jan 30.

3 Semmelweis Egyetem, Általános Orvostudományi Kar, Bőr-, Nemikórtani és Bőronkológiai Klinika, Primer Immundeficientia Klinikai Részleg és Laboratórium Budapest Magyarország.

Összefoglaló. A krónikus mucocutan candidiasis genetikailag heterogén betegségcsoport, amelyre a bőr, a körmök és a nyálkahártyák Candida okozta tartós vagy visszatérő, nem invazív fertőzése jellemző. A Candida-fertőzések iránti fokozott fogékonyság oka a Th17-sejtes immunitás defektusa, amelynek hátterében különböző gének mutációja állhat. Read More

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January 2022

IL-17 serum level in patients with chronic mucocutaneous candidiasis disease.

Pediatr Allergy Immunol 2022 01;33 Suppl 27:77-79

Department of Human Pathology of Adulthood and Childhood, Pediatric Emergency Unit, University of Messina, Messina, Italy.

Background: Chronic mucocutaneous candidiasis (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 of antimicrobial peptides, essential for the immune response against Candida.

Aim: To evaluate the serum level of IL-17 in a family affected by CMC restricted to the nails of the hands and feet. Read More

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January 2022

Anticytokine autoantibodies: Autoimmunity trespassing on antimicrobial immunity.

J Allergy Clin Immunol 2022 01;149(1):24-28

Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address:

Anticytokine autoantibodies can cause immunodeficiency or dysregulate immune responses. They may phenocopy genetically defined primary immunodeficiencies. We review current anti-type 1 and anti-type 2 interferon; anti-IL-12/23, anti-IL-17, and anti-GM-CSF autoantibodies; HLA associations; disease associations; and mechanistically based treatment options. Read More

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January 2022

Case Report: A New Gain-of-Function Mutation of Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association.

Front Immunol 2021 20;12:760019. Epub 2021 Dec 20.

Department of Clinical Immunology and Internal Medicine, National Reference Center for Systemic Autoimmune Diseases (CNR RESO), Tertiary Center for Primary Immunodeficiency, Strasbourg University Hospital, Strasbourg, France.

Purpose: Heterozygous missense mutations leading to a gain of function (GOF) are the most frequent genetic cause of chronic mucocutaneous candidiasis (CMC). We describe the case of a patient presenting a new GOF mutation of with the clinical symptoms of CMC, recurrent pneumonia, and persistent central erythema with papulopustules with ocular involvement related to rosacea-like demodicosis.

Methods: Genetic analysis targeted next-generation sequencing (NGS; NGS panel DIPAI v. Read More

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February 2022

Chronic tongue pain and alopecia.

Pediatr Dermatol 2021 Nov;38(6):e58-e60

The Ronald O. Perelman Department of Dermatology, NYU Grossman School of Medicine, New York, NY, USA.

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November 2021

Co-Occurrence of Chronic Mucocutaneous Candidiasis with Woolly Hair.

Skin Appendage Disord 2021 Nov 15;7(6):510-514. Epub 2021 Jun 15.

Department of Dermatology, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India.

Chronic mucocutaneous candidiasis is an immunodeficiency state, inherited or acquired, characterized by recurrent and/or persistent candidiasis of skin, nails, and mucous membranes. Woolly hair is a congenital structural anomaly of scalp hair, characterized by light-colored, short, extremely kinky, and thin hair due to premature termination of anagen phase of hair cycle. Both conditions are known to present in syndromic and non-syndromic forms. Read More

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November 2021

Hypoadrenalism as the Single Presentation of Autoimmune Polyglandular Syndrome Type 1.

J Endocr Soc 2021 Dec 23;5(12):bvab151. Epub 2021 Sep 23.

Institute of Endocrinology and Centre for Excellence in Diabetes and Obesity, Rambam Health Care Campus, Haifa, Israel.

Type 1 autoimmune polyglandular syndrome (APS1) is a rare hereditary disease affecting nearly 600 patients worldwide. The first of its cardinal manifestations, chronic mucocutaneous candidiasis, hypoparathyroidism, or Addison's disease, presents in childhood. Additional nonclassical landmarks of APS1 continue to develop as late as the fifth decade of life. Read More

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December 2021

CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited.

J Clin Immunol 2022 02 17;42(2):336-349. Epub 2021 Nov 17.

Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, MD, Bethesda, USA.

Background: CARD9 deficiency is an autosomal recessive primary immunodeficiency underlying increased susceptibility to fungal infection primarily presenting as invasive CNS Candida and/or cutaneous/invasive dermatophyte infections. More recently, a rare heterozygous dominant negative CARD9 variant c.1434 + 1G > C was reported to be protective from inflammatory bowel disease. Read More

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February 2022

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.

Front Pediatr 2021 1;9:723532. Epub 2021 Nov 1.

Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type-1 (APS-1), is a rare monogenic autoimmune disease caused by loss-of-function mutations in the autoimmune regulator () gene. AIRE deficiency impairs immune tolerance in the thymus and results in the peripheral escape of self-reactive T lymphocytes and the generation of several cytokine- and tissue antigen-targeted autoantibodies. APECED features a classic triad of characteristic clinical manifestations consisting of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and primary adrenal insufficiency (Addison's disease). Read More

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November 2021

sQuiz your knowledge: Giant ulcerative plaque on the trunk.

Eur J Dermatol 2021 Aug;31(4):593-595

Dermatology Department, Farhat. Hached University Teaching Hospital. Bd Ibn El Jazzar 4002 Sousse, Sahloul N34, Sousse, Tunisia.

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Regulation of IL-17A-Producing Cells in Skin Inflammatory Disorders.

J Invest Dermatol 2022 03 22;142(3 Pt B):867-875. Epub 2021 Sep 22.

Department of Dermatology, School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA.

This review focuses on the IL-17A family of cytokines produced by T lymphocytes and other immune cells and how they are involved in cutaneous pathogenic responses. It will also discuss cutaneous dysbiosis and FOXP3 regulatory T cells in the context of inflammatory conditions linked to IL-17 responses in the skin. Specifically, it will review key literature on chronic mucocutaneous candidiasis and psoriasis. Read More

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Malignant Transformation and Treatment Recommendations of Chronic Hyperplastic Candidiasis-A Six-year Retrospective Cohort Study.

Mycoses 2021 Nov 29;64(11):1422-1428. Epub 2021 Sep 29.

Department of Oral Medicine, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing, China.

Background: Oral chronic hyperplastic candidiasis (CHC) is the most uncommon type of oral candidiasis with diverse manifestations. Up to date the diagnosis, long-term management and prognosis of this oral potentially malignant disorder remain obscure.

Objectives: The aim of this study was to provide the recommendations guiding the diagnostic procedure, clinical management and prognosis assessment of CHC. Read More

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November 2021