1,220 results match your criteria: "Candidiasis Chronic Mucocutaneous"
Article Synopsis
- A seven-year-old Japanese girl with chronic mucocutaneous candidiasis (CMC) was studied due to a rare genetic condition linked to her immune response, specifically involving IL-17A/F pathways, which caused her to have persistent fungal infections.
- Genetic analysis revealed a novel duplication variant causing a premature stop codon in the IL-17RC gene, leading to a loss of its function and confirming its role in the patient's clinical symptoms.
- A new evaluation system was developed to assess genetic variants, helping to differentiate between harmful mutations and neutral variations, which can assist in diagnosing similar cases of AR IL-17RC deficiency in the future.
Genetic inhibition of CARD9 accelerates the development of atherosclerosis in mice through CD36 dependent-defective autophagy.
Nat Commun
August 2023
Université Paris Cité, INSERM U970, Paris Cardiovascular Research Center, Paris, France.
Article Synopsis
- CARD9 is an important signaling molecule in macrophages, but its function in atherosclerosis is still not well understood.
- Deletion of the CARD9 gene leads to increased atherosclerosis in specific mouse models, indicating that it helps protect against this condition independent of the adaptive immune system.
- CARD9 deficiency affects macrophage behavior by promoting inflammation and lipid accumulation, but treatments like rapamycin or metformin can reverse these effects and help restore normal macrophage functions.
Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a rare monogenic disease determined by biallelic mutations in gene, which encodes a transcription factor essential for central immune tolerance. Classic diagnosis is determined by the presence of two of the main APECED clinical diseases: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and Addison's disease. Non-endocrine autoimmunity, involving the liver, intestine, eyes, and kidneys, is generally reported in a minority of European patients, while American APECED patients have a higher tendency of developing organ-specific non-endocrine manifestations early in life.
View Article and Find Full Text PDFChronic mucocutaneous candidiasis due to STAT1 gene mutation.
J Dermatol
November 2023
Department of Dermatology, University of the Ryukyus Graduate School of Medicine, Okinawa, Japan.
Knowledge mapping of COVID-19 and autoimmune diseases: a visual and bibliometric analysis.
Clin Exp Med
November 2023
Department of Urology, The People's Hospital of Longhua, The Affiliated Hospital of Southern Medical University, Shenzhen, China.
Background: Many studies have shown an association between COVID-19 and autoimmune diseases (ADs). Studies on COVID-19 and ADs have also increased significantly, but there is no bibliometric analysis to summarize the association between COVID-19 and ADs. The purpose of this study was to perform a bibliometric and visual analysis of published studies related to COVID-19 and ADs.
View Article and Find Full Text PDFChronic mucocutaneous candidiasis presenting as refractory fissured tongue in a patient with mutation: the first reported case of Chinese ethnicity.
Emerg Microbes Infect
December 2023
Department of Dermatology and Venerology, Peking University First Hospital, Beijing, People's Republic of China.
Emapalumab as bridge to hematopoietic cell transplant for STAT1 gain-of-function mutations.
J Allergy Clin Immunol
September 2023
Pediatric Bone Marrow Transplant and Cellular Therapy Program, MSK Kids, Memorial Sloan Kettering Cancer Center, New York, NY. Electronic address:
Neutrophils in STAT1 Gain-Of-Function Have a Pro-inflammatory Signature Which Is Not Rescued by JAK Inhibition.
J Clin Immunol
October 2023
Department of Immunology, 2nd Faculty of Medicine Charles University, University Hospital in Motol, V Uvalu 84, 515006, Prague, Czech Republic.
Article Synopsis
- STAT1 gain-of-function mutations lead to an immune disorder characterized by symptoms ranging from chronic mucocutaneous candidiasis to serious issues like autoimmunity and vascular problems, primarily due to Th17 cell dysfunction.
- A study of ten patients found that their peripheral blood neutrophils were immature, highly activated, and showed unusual behaviors such as increased degranulation, NETosis, and inflammatory responses, but did not behave like typical immune cells when stimulated.
- The treatment with JAKinib ruxolitinib did not improve the neutrophil abnormalities, indicating that these cells might play a significant role in the immune issues associated with STAT1 GOF CMC.
A Novel Interleukin 17 Receptor A Mutation in a Child with Chronic Mucocutaneous Candidiasis and Staphylococcal Skin Infections.
Turk Arch Pediatr
July 2023
Department of Pediatric Immunology, Hacettepe University Faculty of Medicine, İhsan Doğramacı Children's Hospital, Ankara, Turkey.
Objective: Chronic mucocutaneous candidiasis leads to persistent or recurrent fungal infections of the nail, skin, oral, and genital mucosa. Impaired interleukin 17-mediated immunity is a cause of chronic mucocutaneous candidiasis. We aimed to show the pathogenicity of a novel interleukin 17 receptor A mutation through functional studies.
View Article and Find Full Text PDFOral candidiasis and seborrheic dermatitis in an 8-year-old female with a heterozygous variant of the IL-17RC gene.
Pediatr Dermatol
February 2024
Department of Dermatology, University of Connecticut School of Medicine, Farmington, Connecticut, USA.
An 8-year-old female with chronic oral candidiasis and severe seborrheic dermatitis was found to have a heterozygous mutation (p.R14X c.40 C>T) of the IL-17RC gene, which was predicted to possibly represent a new pathogenic variant via truncation or nonsense-mediated mRNA decay.
View Article and Find Full Text PDFSuccessful Rezafungin Treatment of an Azole-Resistant Chronic Mucocutaneous Candidiasis in a STAT-1 Gain-of-Function Patient.
J Clin Immunol
August 2023
Service de Maladies Infectieuses et Tropicales, Faculté de Médecine, Hôpital Necker Enfants Malades, Assistance Publique des Hôpitaux de Paris, Université Paris-Cité, 149 Rue de Sèvres, 75015, Paris, France.
Case for diagnosis. Disseminated erythematous and scaly plaques: chronic mucocutaneous candidiasis.
An Bras Dermatol
November 2023
Department of Dermatology, Hospital Infantil João Paulo II, Fundação Hospitalar do Estado de Minas Gerais, Belo Horizonte, MG, Brazil.
Quality of life in women with chronic recurrent vulvovaginal candidosis: A sub-analysis of the prospective multicentre phase IIb/III Prof-001 study.
Mycoses
September 2023
Department of Obstetrics and Gynecology, Division of Obstetrics and Feto-maternal Medicine, Medical University of Vienna, Vienna, Austria.
Background: Chronic recurrent vulvovaginal candidosis (RVVC), defined as three or more episodes of vulvovaginal candidosis per year, significantly impairs quality of life (QoL) and sexual health.
Objectives: The primary objective of this study was to assess health-related QoL in women with RVVC using validated questionnaires before and after treatment. The secondary objective was to analyse the effect of RVVC on women's sexual health.
SARS-CoV-2-induced adrenal crisis in a patient with autoimmune polyglandular syndrome type 1: case report.
Folia Med (Plovdiv)
April 2023
Rheumatology Unit, Pulmed University Hospital, Plovdiv, Bulgaria.
Autoimmune polyglandular syndromes (APS) are rare disorders characterized by the coexistence of endocrine and non-endocrine dysfunctions mediated by autoimmune mechanisms. Autoimmune polyglandular syndrome type 1 is defined as coexistence of chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency. Addison's disease as the obligatory component is potentially life threatening.
View Article and Find Full Text PDFAn Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission.
Case Reports Immunol
April 2023
Ege University Faculty of Medicine, Department of Pediatric Rheumatology, Izmir, Turkey.
Background: APECED is a syndrome characterized by autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy. The most observed clinical findings are chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency. .
View Article and Find Full Text PDFThe Th17/IL-17 Axis and Host Defense Against Fungal Infections.
J Allergy Clin Immunol Pract
June 2023
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; Imagine Institute, University of Paris, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, NY, USA.
Chronic mucocutaneous candidiasis (CMC) was recognized as a primary immunodeficiency in the early 1970s. However, for almost 40 years, its genetic etiology remained unknown. The progressive molecular and cellular description of inborn errors of immunity (IEI) with syndromic CMC pointed toward a possible role of IL-17-mediated immunity in protecting against fungal infection and CMC.
View Article and Find Full Text PDFCARD9 deficiency promotes pancreatic cancer growth by blocking dendritic cell maturation via SLC6A8-mediated creatine transport.
Oncoimmunology
April 2023
Department of Pharmacology, School of Pharmacy, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Pancreatic cancer (PC) is featured with low survival rate and poor outcomes. Herein, we found that the expression of caspase-recruitment domain-containing protein 9 (CARD9), predominantly expressed in innate immune cells, was positively related to the prognosis of PC patients. CARD9-deficient PC mice exhibited rapider cancer progression and poorer survival rate.
View Article and Find Full Text PDFGastrointestinal manifestations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patient: major effect on treatment and prognosis.
Endocrinol Diabetes Metab Case Rep
April 2023
Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia.
Article Synopsis
- APECED is a rare genetic disorder caused by mutations in the AIRE gene, characterized by symptoms like candidiasis, hypoparathyroidism, and adrenal insufficiency.
- A 17-year-old female patient with APECED experienced severe abdominal pain and needed increased doses of calcium and hydrocortisone, indicating complications associated with the syndrome.
- Gastrointestinal issues, including autoimmune atrophic gastritis, can arise from APECED and require prompt treatment to avoid serious health risks like adrenal crises and hypocalcemia.
A Rare Case of Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy Syndrome: Dental Perspective on Diagnosis and Management.
Int J Clin Pediatr Dent
January 2023
Department of Pedodontics and Preventive Dentistry, University College of Medical Sciences, Delhi, India.
Aim: To report a unique case of Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a young boy and discuss the oral health impact and management of the disease.
Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autoimmune disorder with various clinical manifestations. Biallelic mutations in the autoimmune regulator (AIRE) gene lead to impairment of central immune tolerance and a targeted attack on various endocrine and non-endocrine organs.
Case report: Myocarditis in congenital STAT1 gain-of function.
Front Immunol
April 2023
Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, Leuven, Belgium.
Autosomal dominant Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations result in an inborn error of immunity characterized by chronic mucocutaneous candidiasis, recurrent viral and bacterial infections, and diverse autoimmune manifestations. Current treatment consists of chronic antifungal therapy, antibiotics for concomitant infections, and immunosuppressive therapy in case of autoimmune diseases. More recently, treatment with Janus kinases 1 and 2 (JAK1/2) inhibitors have shown promising yet variable results.
View Article and Find Full Text PDFA Novel Homozygous Mutation of AIRE Gene in a Patient With Autoimmune Polyglandular Syndrome Type I.
Cureus
February 2023
Neonatology, San Juan de Dios Hospital, San José, CRI.
Autoimmune polyglandular syndrome type I (APS1) shows common features such as mucocutaneous candidiasis, hypoparathyroidism, and hypoadrenalism. The clinical manifestations and their onset are highly variable. Besides endocrine abnormalities, patients can present with dental problems, keratoconjunctivitis, fever, rash, chronic diarrhea, and autoimmune hepatitis.
View Article and Find Full Text PDFUnusual and coinfection in a child with a mutation: A case report and literature review.
Front Immunol
March 2023
Department of Respiratory Diseases, Shenzhen Children's Hospital Affiliated to Shantou University Medical College, Shenzhen, China.
Article Synopsis
- The text discusses the case of a 1-year-2-month-old boy with severe laryngitis and pneumonia caused by a coinfection of opportunistic pathogens in an immunodeficient patient, which is rare in children.
- The child's immune deficiency is linked to a specific mutation in the STAT1 gene, known to be related to chronic fungal infections.
- After targeted treatment with itraconazole and trimethoprim-sulfamethoxazole, the boy improved and remained symptom-free during a one-year follow-up.