1,220 results match your criteria: "Candidiasis Chronic Mucocutaneous"
Recurrent Enteritis and Intestinal Obstruction in a Patient with Chronic Mucocutaneous Candidiasis due to STAT1 Gain-of-Function Mutation.
Mycopathologia
December 2024
Dermatology Hospital, Southern Medical University, Guangzhou, China.
We presented a case of chronic mucocutaneous candidiasis (CMC) due to STAT1 GOF mutation with recurrent enteritis and intestinal obstruction. A 33-year-old woman complained of recurrent oral erosion and finger (toe) nails damage for over 30 years. Candida albicans were cultured from the oral mucosa and nails.
View Article and Find Full Text PDFChronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report.
Dermatol Reports
November 2024
Department of Dermatology, College of Medicine, King Saud University and King Saud University Medical City, Riyadh, Saudi Arabia.
Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency condition caused by a genetic abnormality that increases the risk of recurrent and persistent skin, nail, and mucous membrane infections with Candida species, typically . Signal transducer and activator of transcription 1 (STAT1) gene mutation is a genetic trigger that causes CMC, which increases the risk of infections, multisystem disorders, and cancer susceptibility. We describe the first case of a Saudi female patient with clinical features of CMC with an underlying (STAT1) gene mutation.
View Article and Find Full Text PDFCase Report: Coinfection of Leprosy and Chronic Mucocutaneous Candidiasis in a Family with STAT1 Gain-of-Function Mutation.
Am J Trop Med Hyg
November 2024
Laboratory of Immunology and Molecular Biology, Federal University of Sergipe, Aracaju, Brazil.
This report documents the first known cases of lepromatous leprosy in patients with chronic mucocutaneous candidiasis (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, carry a heterozygous STAT1 mutation (c.821G>A; p.
View Article and Find Full Text PDFSTAT1 and STAT3 gain of function: clinically heterogenous immune regulatory disorders.
Curr Opin Allergy Clin Immunol
December 2024
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Purpose Of Review: The identification of STAT1 gain-of-function (GOF) in 2011 and STAT3 GOF in 2014 has advanced our understanding of the host immunity along the JAK/STAT pathway and allowed targeted treatment approaches. We review the clinical features and pathogenesis of STAT1 and STAT3 GOF and how this has shaped new approaches to therapy.
Recent Findings: STAT1 GOF, initially described in patients with chronic mucocutaneous candidiasis (CMC) and autoimmune thyroid disease, is now recognized to cause early-onset multisystem autoimmunity and a range of infections.
Phenotypes of 126 Moroccan HIES patients according to NIH Score.
Tunis Med
October 2024
Laboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco.
Article Synopsis
- Hyper-IgE syndrome (HIES) is an inherited immune disorder marked by high IgE levels, chronic eczema, and recurrent staphylococcal infections.
- This study examined Moroccan patients likely suffering from HIES, focusing on their clinical and immunological features based on specific NIH criteria over a 25-year period.
- Findings revealed a wide range of symptoms, with eczema and skin infections being the most common, emphasizing the need for molecular analysis for accurate diagnosis and treatment in light of overlapping symptoms.
A Novel Monoallelic Small Deletion Confers Gain-of-Function of STAT1 in a Child with Candidiasis and Mycobacterial Diseases.
J Clin Immunol
October 2024
Laboratory of Immune Deficiencies, National Institute of Pediatrics Mexico City, Mexico City, Mexico.
Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergol Select
October 2024
Center for Child and Adolescent Health, Helios Hospital Krefeld, Academic Hospital of RWTH Aachen, Krefeld.
Article Synopsis
- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
- Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
Article Synopsis
- This case report highlights dilated cardiomyopathy as a serious heart complication in autoimmune polyendocrine syndrome type 1 (APS-1), stressing the importance of early detection and teamwork among healthcare providers.
- APS-1, a rare genetic disorder caused by mutations in the AIRE gene, typically presents with symptoms like mucocutaneous candidiasis, adrenal insufficiency, and hypoparathyroidism.
- The reported case involves a 28-year-old male with multiple symptoms confirming APS-1, indicating the necessity for comprehensive care and regular follow-up to enhance patient outcomes.
Partial Lipodystrophy Affecting the Extremities in a Young Woman With Autoimmune Polyglandular Syndrome 1.
JCEM Case Rep
October 2024
Division of Endocrinology, Department of Internal Medicine, UT Southwestern Medical Center, Dallas, TX 75390-8537, USA.
Article Synopsis
- Autoimmune polyglandular syndrome 1 (APS1) is a genetic disorder characterized by multiple autoimmune issues, including candidiasis, hypoparathyroidism, and adrenal insufficiency, caused by mutations in the autoimmune regulator gene.
- A case study of a 39-year-old woman with APS1 highlighted her severe health challenges, including childhood fungal infections that led to a bone marrow transplant and adult-onset partial lipodystrophy marked by significant fat loss.
- Research showed pathogenic variants in her genetic profile and the presence of specific autoantibodies, suggesting potential links to fat tissue issues, though the exact cause of her lipodystrophy remains unclear.
Reduction in mucosal-associated invariant T cells (MAIT) in APECED patients is associated with elevated serum IFN-γ concentration.
Eur J Immunol
December 2024
Translational Immunology Research Program, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Article Synopsis
- Mucosal-associated invariant T cells (MAIT) are important immune cells found in mucosal organs that help defend against infections, and their presence is reduced in patients with APECED, a genetic immune disorder linked to chronic fungal infections.
- In a study involving 24 APECED patients, it was found that their circulating MAIT cells made up a smaller percentage of their T cells compared to healthy individuals, but these patient MAIT cells still showed comparable levels of IFN-γ production when stimulated.
- The study also revealed that lower proportions of MAIT cells in APECED patients correlated with higher levels of certain inflammatory markers (IFN-γ and IL-18), suggesting that even though MAITs were fewer
Recalcitrant extensive dermatophytosis in twin brothers with APECED syndrome.
Pediatr Dermatol
September 2024
Department of Dermatology & Venereology, All India Institute of Medical Sciences, New Delhi, India.
Article Synopsis
- - Chronic mucocutaneous candidiasis (CMC) involves repeated Candida infections and is often associated with primary immunodeficiencies.
- - A case study of two 8-year-old identical twins reveals they were diagnosed with APECED syndrome after showing symptoms like extensive skin and nail infections, malabsorption, and dental issues due to a mutation in the AIRE gene.
- - This case emphasizes the unusual skin infection presentation in APECED and highlights how clinical symptoms can vary significantly, even among genetically identical siblings.
STAT1 Gain-of-Function Mutation in Chronic Mucocutaneous Candidiasis.
Indian J Pediatr
December 2024
Department of Pediatrics, Penteli Children's Hospital, Athens, Greece.
Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.
J Clin Immunol
August 2024
Laboratory of Human Immunology and Infectious Diseases, Graduate Institute of Clinical Medical Sciences, Chang Gung University, No. 259, Wenhua 1st Rd., Guishan District, Taoyuan City, 33302, Taiwan.
Article Synopsis
- Heterozygous STAT1 Gain-of-Function mutations are linked to chronic mucocutaneous candidiasis (CMC) and can lead to various immune disorders like autoimmune diseases and malignancies, with JAK inhibitors showing promise in treatment.
- In a study of five Taiwanese patients, two new STAT1 GOF mutations were discovered, revealing clinical symptoms like CMC and autoimmunity, along with notable changes in immune cell types.
- This research provides key insights into the immune dysregulation seen in STAT1 GOF patients and suggests that baricitinib is safe and effective for treatment, although further studies are needed to understand the underlying mechanisms driving these immune changes.
Clinical and Biological Perspectives on Noncanonical Esophageal Squamous Cell Carcinoma in Rare Subtypes.
Am J Gastroenterol
December 2024
Division of Digestive and Liver Diseases, Department of Medicine, Columbia University, New York, New York, USA.
Article Synopsis
- Esophageal squamous cell carcinoma (ESCC) is primarily caused by environmental factors like alcohol and tobacco, but it can also arise from rare non-environmental conditions that are often overlooked.
- The review emphasizes the necessity for healthcare professionals to recognize these rare diseases (like Fanconi anemia and achalasia) as high-risk for developing ESCC, advocating for early detection through endoscopic evaluation and advanced imaging techniques.
- It highlights common underlying mechanisms of malignant transformation in these conditions, such as abnormal cell growth, inflammation, and genetic instability, to improve understanding and screening strategies for ESCC.
Retrospective identification of the first cord blood-transplanted severe aplastic anemia in a -associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background.
Front Immunol
August 2024
Central Laboratory, St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Article Synopsis
- - Severe aplastic anemia (SAA) is a serious condition where bone marrow fails, potentially triggered by environmental, autoimmune, or genetic factors, including genetic mutations linked to chronic mucocutaneous candidiasis (CMC).
- - The genetic mutations that cause CMC lead to overactivation of the STAT1 signaling pathway, which plays a key role in the immune and blood systems, and this malfunction can also contribute to some cases of idiopathic SAA.
- - The paper presents a notable case of a patient with SAA from a family with CMC and emphasizes that SAA should be recognized as a possible manifestation of mutations in CMC cases, suggesting the need for further genetic analysis during diagnosis.
A novel inherited CARD9 deficiency in an otherwise healthy woman with CNS candidiasis.
Clin Immunol
August 2024
Department of Infectious Diseases, Shanghai Key Laboratory of Infectious Diseases and Biosafety Emergency Response, National Medical Center for Infectious Diseases, Huashan Hospital, Fudan University, Shanghai, China. Electronic address:
Article Synopsis
- * A case study of a 24-year-old woman revealed a new mutation in the CARD9 gene linked to her CNS candidiasis, despite her being previously immunocompetent.
- * The research highlighted how this mutation affects immune responses, showing decreased inflammatory cytokines, poor Th17 cell differentiation, and reduced neutrophil presence in the CNS, suggesting genetic testing for CARD9 mutations in similar cases.
An uncommon presentation of autoimmune polyglandular syndrome type 1 (APS-1)-A case report.
Clin Case Rep
June 2024
Family and Community Medicine Department College of Medicine, King Khalid University Abha Saudi Arabia.
Article Synopsis
- Autoimmune polyglandular syndrome type 1 (APS-1) is a rare condition characterized by a combination of at least two disorders, such as chronic hypoparathyroidism and Addison's syndrome, and can be diagnosed through genetic testing even without chronic mucocutaneous candidiasis (CMC).
- A 28-year-old female with a long history of hypoparathyroidism was diagnosed with Addison's disease after presenting with symptoms like hypogonadism and primary amenorrhea, despite a negative Synacthen test, and she received intravenous treatment during an adrenal crisis.
- The case emphasizes the importance of early diagnosis and tailored treatment for APS-1 patients to improve their quality of life and prevent serious complications, as
Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations.
J Clin Immunol
May 2024
National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.
Article Synopsis
- STAT1 is a key protein involved in immune responses, and patients with STAT1 gain-of-function (GOF) mutations face increased susceptibility to chronic infections, particularly bacterial ones, despite having normal IgG levels.
- A study involving eleven patients with different STAT1-GOF mutations confirmed these mutations through various laboratory methods, revealing a consistent increase in STAT1 protein levels and specific immune deficiencies.
- The findings indicated that these mutations hinder the ability of B cells to produce effective antibodies, leading to recurrent infections, but regular intravenous immunoglobulin (IVIG) therapy proved beneficial in managing bacterial infections, even in patients with normal IgG levels.
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.
J Clin Immunol
May 2024
Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-Ku, Tokyo, 113-8519, Japan.
Article Synopsis
- - Autosomal recessive CARD9 deficiency is linked to fungal diseases, as seen in two Japanese patients experiencing Candida albicans infections who carried specific CARD9 genetic variants.
- - All five patients, including previously reported cases from Japan and Korea, shared a particular CARD9 variant (c.820dup), suggesting a common ancestry from less than 4,000 years ago.
- - While the Chinese patients frequently had phaeohyphomycosis from Phialophora spp., this was not observed in the Japanese and Korean patients, indicating that environmental factors might play a role in disease variation.
Chinese Chronic Mucocutaneous Candidiasis: A Case Report Series.
Infect Drug Resist
May 2024
Laboratory of Medical Mycology, Jining No. 1 People's Hospital, Jining, Shandong Province, People's Republic of China.
Article Synopsis
- * The infections in these patients were linked to specific pathogens identified through modern techniques, and one patient experienced additional health issues like vitiligo and hypothyroidism.
- * The article reviews recent CMC cases and suggests that advancements in genetic screening and new treatment options, including gene-targeted therapies, could improve diagnosis and management alongside standard antifungal treatments.
Long-term remission of candidiasis with fermented lingonberry mouth rinse in an adult patient with APECED.
Int J Infect Dis
July 2024
Department of Dermatology and Allergology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Article Synopsis
- She underwent various antifungal treatments from 2008 to 2021, but these were only somewhat effective, often leading to resistance and hospitalizations.
- In April 2021, she started using fermented lingonberry juice as a mouth rinse, resulting in a remarkable long-term remission of 2.5 years without any symptoms or medication.
Lessons from prospective longitudinal follow-up of a French APECED cohort.
J Clin Endocrinol Metab
April 2024
Department of Endocrinology, Diabetology and Metabolism, Huriez Hospital, Lille University Hospital, F-59000 Lille, France.
Article Synopsis
- APECED syndrome is a rare genetic disorder caused by mutations in the AIRE gene, typically characterized by a triad of symptoms including hypoparathyroidism, adrenal failure, and chronic mucocutaneous candidiasis (CMC), along with other non-endocrine issues.
- In a national study involving 25 patients from 23 families, researchers identified 11 different variants of the AIRE gene, including two previously unreported variants, and found that a majority of patients displayed multiple clinical manifestations.
- The study revealed significant immunological disturbances, such as NK cell lymphopenia and altered B lymphocyte homeostasis, and highlighted a variety of non-endocrine symptoms that could potentially be life-threatening, emphasizing the need for
Chronic Mucocutaneous Candidiasis Due to STAT1 Gene Variant.
JAMA Dermatol
May 2024
Department of Medical Mycology, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib.
J Clin Immunol
April 2024
Department of Clinical and Experimental Sciences, Department of Pediatrics, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy.
Article Synopsis
- The STAT1 gain-of-function syndrome leads to chronic mucocutaneous candidiasis and can also cause various other infections, autoimmune issues, and malignancies due to severe lymphopenia.
- In a study of seven patients with this condition, it was found that increased T lymphocyte apoptosis occurs, especially when stimulated, and treatment with the JAK inhibitor ruxolitinib showed promise in reducing this apoptosis and improving lymphopenia.
- The findings suggest that JAKinib therapy could be beneficial for treating not only chronic candidiasis and lymphopenia but also for managing increased interferon responses in patients with autoimmune or autoinflammatory symptoms.