963 results match your criteria Candidiasis Chronic Mucocutaneous


The Skin as a Window into Primary Immune Deficiency Diseases: Atopic Dermatitis and Chronic Mucocutaneous Candidiasis.

J Allergy Clin Immunol Pract 2019 Mar;7(3):788-798

Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY.

Primary immune deficiency diseases characteristically present with recurrent, severe, or unusual infections. These infections may often involve the skin, with mucocutaneous candidal infections seen in a variety of different primary immune deficiencies. Primary immune deficiencies may also present with noninfectious cutaneous complications, of which eczema is the most common. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaip.2018.11.026DOI Listing
March 2019
2 Reads

Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined.

Eur J Immunol 2019 Feb 23. Epub 2019 Feb 23.

Department of Biomedicine, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.

STAT1 gain-of-function (GOF) variants lead to defective Th17 cell development and chronic mucocutaneous candidiasis (CMC), but frequently also to autoimmunity. Stimulation of cells with STAT1 inducing cytokines like interferons (IFN) result in hyperphosphorylation and delayed dephosphorylation of GOF STAT1. However, the mechanism how the delayed dephosphorylation exactly causes the increased expression of STAT1-dependent genes, and how the intracellular signal transduction from cytokine receptors is affected, remains unknown. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/eji.201847955DOI Listing
February 2019
2 Reads

Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.

J Clin Immunol 2019 Feb 4. Epub 2019 Feb 4.

Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, 4th Floor, Building no.3, Children's Medical Center, Gharib St, Keshavarz Blvd, 14185-863, Tehran, IR, 14194, Iran.

Purpose: Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency, triggered by non-tuberculous mycobacteria or Bacillus Calmette-Guérin (BCG) vaccines and characterized by severe diseases. All known genetic etiologies are inborn errors of IFN-γ-mediated immunity. Here, we report the molecular, cellular, and clinical features of patients from 15 Iranian families with disseminated disease without vaccination (2 patients) or following live BCG vaccination (14 patients). Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-019-0593-4
Publisher Site
http://dx.doi.org/10.1007/s10875-019-0593-4DOI Listing
February 2019
18 Reads

IRF and STAT Transcription Factors - From Basic Biology to Roles in Infection, Protective Immunity, and Primary Immunodeficiencies.

Authors:
Trine H Mogensen

Front Immunol 2018 8;9:3047. Epub 2019 Jan 8.

Department of Infectious diseases, Aarhus University Hospital, Aarhus, Denmark.

The induction and action of type I interferon (IFN) is of fundamental importance in human immune defenses toward microbial pathogens, particularly viruses. Basic discoveries within the molecular and cellular signaling pathways regulating type I IFN induction and downstream actions have shown the essential role of the IFN regulatory factor (IRF) and the signal transducer and activator of transcription (STAT) families, respectively. However, the exact biological and immunological functions of these factors have been most clearly revealed through the study of inborn errors of immunity and the resultant infectious phenotypes in humans. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fimmu.2018.03047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331453PMC
January 2019
5 Reads

Immunologic characterization of patients with chronic mucocutaneous candidiasis disease.

Clin Case Rep 2019 Jan 4;7(1):180-185. Epub 2018 Dec 4.

Department of Internal Medicine, Division of Allergy/Immunology Albany Medical College Albany New York.

Even if initial immunologic screen is normal, a high index of suspicion for immunodeficiency should guide the evaluation and management of patients with recurrent episodes of mucocutaneous candidiasis. Although rare, a diagnosis of chronic mucocutaneous disease should always be considered in order to improve their outcome. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ccr3.1946
Publisher Site
http://dx.doi.org/10.1002/ccr3.1946DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333065PMC
January 2019
16 Reads

Oral Administration of Human Polyvalent IgG by Mouthwash as an Adjunctive Treatment of Chronic Oral Candidiasis.

Front Immunol 2018 21;9:2956. Epub 2018 Dec 21.

Departamento de Investigación en Microbiología, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City, Mexico.

is a commensal fungus that can cause disease ranging in severity from moderate to severe mucosal infections to more serious life-threating disseminated infections in severely immunocompromised hosts. Chronic mucocutaneous candidiasis (CMC) occurs in patients with mutations in genes affecting IL-17-mediated immunity, such as , and , or gain of function (GOF) mutations in . New strategies for the treatment of candidiasis are needed because of the increased burden of infections and the emergence of drug-resistant strains. Read More

View Article

Download full-text PDF

Source
https://www.frontiersin.org/article/10.3389/fimmu.2018.02956
Publisher Site
http://dx.doi.org/10.3389/fimmu.2018.02956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309162PMC
December 2018
13 Reads

Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation.

J Clin Immunol 2019 Jan 13;39(1):37-44. Epub 2018 Dec 13.

Division of Pediatric Allergy/Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey.

Purpose: Human signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations present with a broad range of manifestations ranging from chronic mucocutaneous candidiasis and autoimmunity to combined immunodeficiency (CID). So far, there is very limited experience with hematopoietic stem cell transplantation (HSCT) as a therapeutic modality in this disorder. Here, we describe two patients with heterozygous STAT1 GOF mutations mimicking CID who were treated with HSCT. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-018-0575-y
Publisher Site
http://dx.doi.org/10.1007/s10875-018-0575-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6430975PMC
January 2019
3 Reads

Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1.

Front Immunol 2018 19;9:2570. Epub 2018 Nov 19.

Department Parasitology-Mycology, CHU, Lille, France.

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. CMC can be complicated by systemic candidiasis or oral squamous cell carcinoma (SCC), and may lead to death. The role of chronic infection in the etiopathogenesis of oral SCC is unclear. Read More

View Article

Download full-text PDF

Source
https://www.frontiersin.org/article/10.3389/fimmu.2018.02570
Publisher Site
http://dx.doi.org/10.3389/fimmu.2018.02570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6254185PMC
November 2018
15 Reads

Dysregulatory syndromes: the role of signal transducers and activators of transcription.

Curr Opin Pediatr 2018 12;30(6):821-828

Instituto Multidisciplinario de Investigaciones en Patologías Pediátricas (IMIPP) CONICET- Inmunología, Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina.

Purpose Of Review: A comparative description of dysregulatory syndromes with mutations in signal transducer and activator of transcription (STAT) genes.

Recent Findings: STAT 1, 3 and 5b loss of function (LOF) and gain of function (GOF) mutations are a heterogeneous group of genetic disorders that range from immunodeficiency (ID) to autoimmune disease (AID), depending on the underlying signalling pathway defect. Between them, there are clear overlapping and differences in clinical presentation and laboratory findings. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MOP.0000000000000685DOI Listing
December 2018
1 Read

Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.

J Clin Immunol 2018 Oct 13;38(7):753-756. Epub 2018 Oct 13.

Department of Pediatrics, Baylor College of Medicine, 1102 Bates, Suite 330, Houston, TX, 77030, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-018-0554-3
Publisher Site
http://dx.doi.org/10.1007/s10875-018-0554-3DOI Listing
October 2018
16 Reads

Eosinophilia and reduced STAT3 signaling affect neutrophil cell death in autosomal-dominant Hyper-IgE syndrome.

Eur J Immunol 2018 12 29;48(12):1975-1988. Epub 2018 Oct 29.

Department of Clinical Microbiology, Karolinska University Hospital, Solna, Sweden.

The autosomal-dominant hyper-IgE syndrome (HIES), caused by mutations in STAT3, is a rare primary immunodeficiency that predisposes to mucocutaneous candidiasis and staphylococcal skin and lung infections. This infection phenotype is suggestive of defects in neutrophils, but data on neutrophil functions in HIES are inconsistent. This study was undertaken to functionally characterize neutrophils in STAT3-deficient HIES patients and to analyze whether the patients` eosinophilia affects the neutrophil phenotype in S. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/eji.201847650DOI Listing
December 2018
13 Reads

STAT1 and STAT3 mutations: important lessons for clinical immunologists.

Expert Rev Clin Immunol 2018 12 25;14(12):1029-1041. Epub 2018 Oct 25.

c National Institute of Allergy and Infectious Diseases, NIH , Bethesda , MD , USA.

Introduction: The transcription factors signal transducer and activator of transcription (STAT) 1 and STAT3 fulfill fundamental functions in nonimmune and immune cells. The description and follow-up of patients with germline mutations that result in either loss-of-function or gain-of-function have contributed to our understanding of the pathophysiology of these regulators. Depending on the type of mutations, clinical symptoms are complex and can include infection susceptibility, immune dysregulation as well as characteristic nonimmune features. Read More

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/1744666X.2018.1
Publisher Site
http://dx.doi.org/10.1080/1744666X.2018.1531704DOI Listing
December 2018
1 Read

Long-term safety profile of ixekizumab in patients with moderate-to-severe plaque psoriasis: an integrated analysis from 11 clinical trials.

J Eur Acad Dermatol Venereol 2019 Feb 22;33(2):333-339. Epub 2018 Nov 22.

Dermatologikum Berlin and SCIderm Research Institute, Hamburg, Germany.

Background: Psoriasis in many patients is a chronic and recalcitrant disease that requires long-term treatment, reinforcing the importance of long-term safety data. Ixekizumab, a high-affinity monoclonal antibody that selectively targets interleukin (IL)-17A, is approved for treating patients with moderate-to-severe plaque psoriasis.

Objective: To determine long-term safety of ixekizumab in psoriasis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jdv.15242DOI Listing
February 2019

Bronchiectasis and Recurrent Respiratory Infections with a Gain-of-Function Variant: First Case in Korea.

Yonsei Med J 2018 Oct;59(8):1004-1007

Division of Pulmonary and Critical Care Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Bronchiectasis is a chronic disease characterized by airway infection and inflammation, leading to permanent dilation of the bronchi. Evaluation of underlying etiology is important in managing young bronchiectasis patients with recurrent infections caused by unusual pathogens. The signal transducer and activator of transcription 1 (STAT1) protein plays a key role in STAT signaling and immune system regulation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3349/ymj.2018.59.8.1004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127433PMC
October 2018
12 Reads

Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1.

Front Endocrinol (Lausanne) 2018 17;9:463. Epub 2018 Aug 17.

Department of Clinical Science, University of Bergen, Bergen, Norway.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or Autoimmune polyendocrine syndrome type-1 (APS-1) (APECED, OMIM 240300) is a rare, childhood onset, monogenic disease caused by mutations in the () gene. The overall mortality is increased compared to the general population and a major cause of death includes malignant diseases, especially oral and esophageal cancers. We here present a case series of four APS-1 patients with oral tongue cancers, an entity not described in detail previously. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fendo.2018.00463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109689PMC
August 2018
1 Read

A Novel Homozygous Mutation of the Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature.

Front Immunol 2018 13;9:1835. Epub 2018 Aug 13.

Infectivology and Clinical Trials Research Division, Bambino Gesù Children's Hospital, Rome, Italy.

Autoimmune-poly-endocrinopathy-candidiasis-ectodermal-dystrophy syndrome (APECED) is a rare monogenic recessive disorder caused by mutations in the autoimmune regulator () gene. Criteria for the diagnosis of APECED are the presence of two of the following disorders: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CHP), and Addison's disease. APECED develops at high incidence in Finns, Sardinians, and Iranian Jews and presents with a wide range of clinical phenotypes and genotypes. Read More

View Article

Download full-text PDF

Source
https://www.frontiersin.org/article/10.3389/fimmu.2018.01835
Publisher Site
http://dx.doi.org/10.3389/fimmu.2018.01835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099424PMC
August 2018
18 Reads

Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults.

J Clin Immunol 2018 Aug 22;38(6):656-693. Epub 2018 Aug 22.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, 75015, Paris, France.

Autosomal recessive CARD9 deficiency underlies life-threatening, invasive fungal infections in otherwise healthy individuals normally resistant to other infectious agents. In less than 10 years, 58 patients from 39 kindreds have been reported in 14 countries from four continents. The patients are homozygous (n = 49; 31 kindreds) or compound heterozygous (n = 9; 8 kindreds) for 22 different CARD9 mutations. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-018-0539-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157734PMC
August 2018
8 Reads

Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression.

NPJ Genom Med 2018 20;3:23. Epub 2018 Aug 20.

1Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and The University of Toronto, Toronto, ON Canada.

Signal transducer and activator of transcription 1 (STAT1) regulates multiple biological processes downstream of a variety of cytokine receptors in many cell types. Heterozygous gain-of-function (GOF) mutations in STAT1 have been associated with a diverse phenotype encompassing chronic mucocutaneous candidiasis (CMCC) and declining immunity. There is no clear correlation between STAT1 domain-specific mutations and phenotype, and it remains unclear why GOF mutations in STAT1 result in such a wide spectrum of clinical presentations. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41525-018-0063-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102291PMC
August 2018
2 Reads

Chronic mucocutaneous candidiasis-more than just skin deep.

Hong Kong Med J 2018 08;24(4):423-425

Department Paediatrics and Adolescent Medicine, Queen Mary Hospital, Pokfulam, Hong Kong.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.12809/hkmj166048DOI Listing
August 2018
1 Read

HDAC inhibitors modulate innate immune responses to micro-organisms relevant to chronic mucocutaneous candidiasis.

Clin Exp Immunol 2018 Nov 1;194(2):205-219. Epub 2018 Oct 1.

Department of Internal Medicine, Radboud Center for Infectious diseases (RCI), Radboud UMC, Nijmegen, the Netherlands.

Signal transducer and activator of transcription 1 (STAT-1) gain-of-function (GOF) mutations cause chronic mucocutaneous candidiasis (CMC), a disease associated with Candida albicans and Staphylococcus aureus infection. Patients suffer from dysegulated immune responses due to aberrant cell programming and function. We investigated the effect of inhibitory molecules targeting histone deacetylases (HDACi) on the immune responses of peripheral blood mononuclear cells (PBMCs) of healthy controls and patients with CMC towards microbes relevant for CMC. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cei.13192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194342PMC
November 2018
9 Reads
3.040 Impact Factor

Congenital Midline Cervical Cleft with Respiratory Epithelium: A Rare Association.

J Indian Assoc Pediatr Surg 2018 Jul-Sep;23(3):164-166

Department of Pathology, Apollo Hospital, Hyderabad, Telangana, India.

Congenital midline cervical cleft is a rare anomaly and is clinically apparent at birth. Histology of this defect is consistent with the presence of stratified squamous epithelium. However, we present a case of 1-year-old boy with chronic mucocutaneous candidiasis associated with two cysts and presence of focal respiratory epithelium. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/jiaps.JIAPS_196_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042163PMC
July 2018
1 Read

APECED in Turkey: A case report and insights on genetic and phenotypic variability.

Clin Immunol 2018 Sep 3;194:60-66. Epub 2018 Jul 3.

Endocrine Unit, Department of Medicine (DIMED), University of Padua, Via Ospedale Civile 105, 35128 Padua, Italy. Electronic address:

APECED is a rare monogenic recessive disorder caused by mutations in the AIRE gene. In this manuscript, we report a male Turkish patient with APECED syndrome who presented with chronic mucocutaneous candidiasis associated with other autoimmune manifestations developed over the years. The presence of the homozygous R257X mutation of the AIRE gene confirmed the diagnosis of APECED syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clim.2018.06.012DOI Listing
September 2018
3 Reads

Meta-Analysis of Autoimmune Regulator-Regulated Genes in Human and Murine Models: A Novel Human Model Provides Insights on the Role of Autoimmune Regulator in Regulating STAT1 and STAT1-Regulated Genes.

Front Immunol 2018 28;9:1380. Epub 2018 Jun 28.

Department of Infection, Immunity and Cardiovascular Disease, The Medical School, University of Sheffield, Sheffield, United Kingdom.

Autoimmune regulator (AIRE) regulates promiscuous expression of tissue-restricted antigens in medullary epithelial cells (mTEC) of the thymus. To understand the diverse effects of AIRE, it is crucial to elucidate the molecular mechanisms underlying the process of AIRE-regulated gene expression. In this study, we generated a recombinant AIRE expression variant of the TEC 1A3 human cell line, TEC 1A3 AIRE, to determine genes targeted by AIRE, and using microarray analysis, we identified 482 genes showing significant differential expression ( < 0. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fimmu.2018.01380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031710PMC
June 2018
2 Reads

Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.

J Clin Immunol 2018 Jul 22;38(5):589-601. Epub 2018 Jun 22.

Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic.

Purpose: Signal transducer and activator of transcription 1 gain-of-function (STAT1 GOF) mutations are the most common cause of chronic mucocutaneous candidiasis (CMC). We aim to report the effect of oral ruxolitinib, the Janus kinase (JAK) family tyrosine kinase inhibitor, on clinical and immune status of a 12-year-old boy with severe CMC due to a novel STAT1 GOF mutation.

Methods: Clinical features and laboratory data were analyzed, particularly lymphocyte subsets, ex vivo IFNγ- and IFNα-induced STAT1, 3, 5 phosphorylation dynamics during the course of JAK1/2 inhibition therapy, and Th17-related, STAT1- and STAT3-inducible gene expression before and during the treatment. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-018-0519-6DOI Listing
July 2018
10 Reads

[Cutaneous manifestations in primary immunodeficiency diseases].

Orv Hetil 2018 Jun;159(23):937-947

Bőr-, Nemikórtani és Bőronkológiai Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest.

Primary immunodeficiency diseases (PIDs) are inherited, genetic disorders. The majority of PIDs are diagnosed in infancy or early childhood, but manifestation in adulthood may also occur. Frequent, recurrent and prolonged infections, which respond poorly to treatment may be heralding signs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1556/650.2018.30994DOI Listing
June 2018
8 Reads

VT-1598 inhibits the in vitro growth of mucosal Candida strains and protects against fluconazole-susceptible and -resistant oral candidiasis in IL-17 signalling-deficient mice.

J Antimicrob Chemother 2018 Aug;73(8):2089-2094

Fungal Pathogenesis Section, Laboratory of Clinical Immunology & Microbiology, NIAID, National Institutes of Health, Bethesda, MD, USA.

Background: Chronic mucocutaneous candidiasis (CMC) treatment often induces drug resistance, posing long-term challenges. A novel broad-spectrum fungal CYP51 inhibitor, VT-1598, specifically targets fungal CYP51, but not human CYP enzymes.

Objectives: To determine the efficacy of VT-1598 in the treatment of oral Candida infection caused by fluconazole-susceptible and -resistant clinical isolates. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/jac/dky170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054247PMC
August 2018
14 Reads
5.313 Impact Factor

Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1.

Oral Dis 2019 Apr 8;25(3):684-692. Epub 2018 Jun 8.

Oral Medicine Unit, UCLH NHS Foundation Trust, Eastman Dental Hospital, UCL Eastman Dental Institute, London, UK.

Chronic mucocutaneous candidiasis (CMC) is a heterogenous group of primary immunodeficiency diseases characterised by susceptibility to chronic or recurrent superficial Candida infection of skin, nails and mucous membranes. Gain-of-function mutations in the STAT1 gene (STAT1-GOF) are the most common genetic aetiology for CMC, and mutation analysis should be considered. These mutations lead to defective responses in Type 1 and Type 17 helper T cells (Th1 and Th17), which, depending on the mutation, also predispose to infection with Staphylococci, Mycobacteria and Herpesviridae. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/odi.12881DOI Listing
April 2019
4 Reads

Verrucous Plaque With Unusually Large Candida Blastoconidia: A Unique Clinicopathological Presentation of Systemic Mucocutaneous Candidiasis.

Am J Dermatopathol 2018 Nov;40(11):846-848

Department of Pathology, Hospital Clínico Universitario/INCLIVA, University of Valencia, Valencia, Spain.

Mucocutaneous candidiasis is a common infection affecting both immunocompetent and immunosuppressed individuals. Diversity in the clinical and histopathological presentation of mucocutaneous candidiasis is well known. However, the occurrence of cutaneous verrucous lesions and giant yeast-like structures has been rarely reported. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/DAD.0000000000001153DOI Listing
November 2018
39 Reads

Chronic mucocutaneous candidiasis, a case study and literature review.

J Mycol Med 2018 Mar 28;28(1):206-210. Epub 2018 Feb 28.

Mycology Research Center, Faculty of Veterinary Medicine, University of Tehran, Tehran, Iran.

Chronic mucocutaneous candidiasis (CMC) is a clinically heterogeneous disease. Some immunologic and hormonal abnormalities have been associated with CMC. The factors that predispose host to CMC infection could be autosomal or acquisitive. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mycmed.2018.02.004DOI Listing
March 2018
2 Reads

Autosomal dominant deficiency of the interleukin-17F in recurrent aphthous stomatitis: Possible novel mutation in a new entity.

Gene 2018 May 16;654:64-68. Epub 2018 Feb 16.

Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Electronic address:

Recurrent Aphthous Stomatitis (RAS) is a common oral inflammatory disease with unknown pathogenesis. Although the immune system alterations could be involved in predisposition of individuals to oral candidiasis, precise etiologies of RAS have not been understood yet. A recent study showed that autosomal dominant IL17F deficiency could cause chronic mucocutaneous candidiasis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2018.02.041DOI Listing
May 2018
5 Reads
2.140 Impact Factor

Rapid whole-genome sequencing identifies a novel variant associated with autoimmune polyendocrine syndrome type 1.

Cold Spring Harb Mol Case Stud 2018 06 1;4(3). Epub 2018 Jun 1.

Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, California 92123, USA.

Autoimmune polyendocrine syndrome type 1 (APS-1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator ( gene. APS-1 is classically characterized by a triad of chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and autoimmune adrenocortical insufficiency. We report a 5-yr-old female who presented with symptoms of tetany due to hypocalcemia and was subsequently found to be secondary to hypoparathyroidism. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/mcs.a002485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983174PMC
June 2018
32 Reads

The Role of IL-17 in Protection against Mucosal Candida Infections.

J Fungi (Basel) 2017 Sep 27;3(4). Epub 2017 Sep 27.

Department of Biological Sciences, The University of Toledo, 2801 West Bancroft St., Toledo, OH 43606, USA.

Interleukin-17 (IL-17) is a proinflammatory cytokine produced by adaptive CD4+ T helper cells and innate lymphocytes, such as γδ-T cells and TCRβ+ "natural" Th17 cells. IL-17 activates signaling through the IL-17 receptor, which induces other proinflammatory cytokines, antimicrobial peptides and neutrophil chemokines that are important for antifungal activity. The importance of IL-17 in protective antifungal immunity is evident in mice and humans, where various genetic defects related to the IL-17-signaling pathway render them highly susceptible to forms of candidiasis such oropharyngeal candidiasis (OPC) or more broadly chronic mucocutaneous candidiasis (CMC), both caused mainly by the opportunistic fungal pathogen . Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/jof3040052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753154PMC
September 2017
8 Reads

Patient Susceptibility to Candidiasis-A Potential for Adjunctive Immunotherapy.

J Fungi (Basel) 2018 Jan 9;4(1). Epub 2018 Jan 9.

Department of Internal Medicine and Radboud Center for Infectious diseases (RCI), Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

spp. are colonizing fungi of human skin and mucosae of the gastrointestinal and genitourinary tract, present in 30-50% of healthy individuals in a population at any given moment. The host defense mechanisms prevent this commensal fungus from invading and causing disease. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/jof4010009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5872312PMC
January 2018
4 Reads

Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1.

Front Immunol 2017 6;8:1651. Epub 2017 Dec 6.

Departamento de Investigación en Microbiología, Instituto Nacional de Enfermedades Respiratorias, México City, México.

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 chronic mucocutaneous candidiasis (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. Read More

View Article

Download full-text PDF

Source
http://journal.frontiersin.org/article/10.3389/fimmu.2017.01
Publisher Site
http://dx.doi.org/10.3389/fimmu.2017.01651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5723642PMC
December 2017
19 Reads

Gain-of-Function Mutations in : A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies.

Case Reports Immunol 2017 13;2017:2846928. Epub 2017 Nov 13.

Ege University Medical Faculty, Department of Pediatric Immunology, Izmir, Turkey.

Chronic Mucocutaneous Candidiasis (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 infections. grew in oral mucosa swab. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2017/2846928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702932PMC
November 2017
30 Reads

Risks of Ruxolitinib in Gain-of-Function-Associated Severe Fungal Disease.

Open Forum Infect Dis 2017 22;4(4):ofx202. Epub 2017 Sep 22.

Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Immunology, National Institutes of Health, Bethesda, Maryland.

Heterozygous gain-of-function (GOF) mutations are associated with chronic mucocutaneous candidiasis and a broad spectrum of infectious, inflammatory, and vascular manifestations. We describe therapeutic failures with the Janus Kinase (JAK) inhibitor ruxolitinib in 2 GOF patients with severe invasive or cutaneous fungal infections. Read More

View Article

Download full-text PDF

Source
https://academic.oup.com/ofid/article/doi/10.1093/ofid/ofx20
Publisher Site
http://dx.doi.org/10.1093/ofid/ofx202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5714179PMC
September 2017
33 Reads

Approach to a Child with Primary Immunodeficiency Made Simple.

Indian Dermatol Online J 2017 Nov-Dec;8(6):391-405

Allergy Immunology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Primary immunodeficiency disorders (PIDs) are a group of disorders affecting the capability to fight against infection. These include defects in T cells and B cells affecting cell-mediated and humoral immunity, respectively, combined humoral and cell-mediated immunodeficiency, defects in phagocytosis, complement defects, and defects in cytokine or cytokine signalling pathways which are detrimental for immune function. Depending upon the type and severity, age at onset of symptoms can vary from neonatal period to late childhood. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/idoj.IDOJ_189_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707833PMC
December 2017
9 Reads

Luliconazole, a new antifungal against Candida species isolated from different sources.

J Mycol Med 2018 Jun 29;28(2):374-378. Epub 2017 Nov 29.

Department of Medical Mycology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran; Infectious and Tropical Diseases Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Golestan BLV, Ahvaz, Iran. Electronic address:

Objective: Luliconazole is an inhibitor for sterol 14-α-demethylase in fungal cells with a broad-spectrum antifungal activity against dermatophytes, Candida albicans, Malassezia species, dematiaceous and hyaline hyphomycetes. Furthermore, luliconazole has been clinically used for the treatment of pityriasis versicolor, dermatophytosis, onychomycosis, cutaneous and mucocutaneous candidiasis. In the present study, we aimed to evaluate in vitro antifungal activity of luliconazole against several strains of Candida species recovered from different clinical materials. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mycmed.2017.11.004DOI Listing
June 2018
9 Reads

Dermatologic manifestations of endocrine disorders.

Transl Pediatr 2017 Oct;6(4):300-312

The Ohio State University College of Medicine, Columbus, OH, USA.

The skin serves as a window for clinicians to understand, diagnose, and monitor endocrine disease. Dermatologic manifestations of endocrinopathies contribute significantly to an individual's health and quality of life. In this review, we outline various disorders of the hypothalamic-pituitary axis, thyroid gland, pancreas, adrenal gland, and androgen axis as well as hereditary endocrine syndromes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.21037/tp.2017.09.08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682371PMC
October 2017
26 Reads

IL-22 neutralizing autoantibodies impair fungal clearance in murine oropharyngeal candidiasis model.

Eur J Immunol 2018 03 11;48(3):464-470. Epub 2017 Dec 11.

Department of Molecular Pathology, Institute of Biomedical and Translational Medicine, University of Tartu, Tartu, Estonia.

Protection against mucocutaneous candidiasis depends on the T helper (Th)17 pathway, as gene defects affecting its integrity result in inability to clear Candida albicans infection on body surfaces. Moreover, autoantibodies neutralizing Th17 cytokines have been related to chronic candidiasis in a rare inherited disorder called autoimmune polyendocriopathy candidiasis ectodermal dystrophy (APECED) caused by mutations in autoimmune regulator (AIRE) gene. However, the direct pathogenicity of these autoantibodies has not yet been addressed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/eji.201747209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5844855PMC
March 2018
6 Reads

Inborn errors of immunity underlying fungal diseases in otherwise healthy individuals.

Curr Opin Microbiol 2017 Dec 10;40:46-57. Epub 2017 Nov 10.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, EU, France; Paris Descartes University, Imagine Institute, 75015 Paris, EU, France. Electronic address:

It has been estimated that there are at least 1.5 million fungal species, mostly present in the environment, but only a few of these fungi cause human disease. Most fungal diseases are self-healing and benign, but some are chronic or life-threatening. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mib.2017.10.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733726PMC
December 2017
11 Reads

The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1).

Autoimmun Rev 2018 Jan 4;17(1):78-85. Epub 2017 Nov 4.

Division of Rheumatology, Allergy and Clinical Immunology, School of Medicine, University of California, Davis, CA 95616, USA. Electronic address:

Autoimmune Polyglandular Syndrome type 1 (APS-1) is a subtype of the autoimmune polyendocrine syndrome characterized by the simultaneous or sequential dysfunction of multiple endocrine or non-endocrine glands. A clinical diagnosis of APS-1 is typically based on the presence of at least two of three following criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. The first identified causative mutated gene for APS-1 is autoimmune regulator (AIRE) encoding a critical transcription factor, which is primarily expressed in the medullary thymic epithelial cells (mTECs) for generating central immune tolerance. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.autrev.2017.11.012DOI Listing
January 2018
19 Reads

Impaired Specific Antifungal Immunity in CARD9-Deficient Patients with Phaeohyphomycosis.

J Invest Dermatol 2018 03 6;138(3):607-617. Epub 2017 Dec 6.

Department of Dermatology, Peking University First Hospital, Research Center for Medical Mycology, Peking University, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China. Electronic address:

Phaeohyphomycosis is a group of severe infections caused by dematiaceous fungi. We previously identified CARD9 deficiencies in four Chinese patients with phaeohyphomycosis caused by Phialophora verrucosa. In this study, we sought to identify the genetic and immunological mechanisms underlying rare dematiaceous fungal infections in three otherwise healthy patients with phaeohyphomycosis caused by Exophiala spinifera, Ochroconis musae, and Corynespora cassiicola. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2017.10.009DOI Listing
March 2018
8 Reads

Chronic mucocutaneous candidiasis: what can we conclude about IL-17 antagonism?

J Dermatolog Treat 2018 Aug 21;29(5):475-480. Epub 2017 Nov 21.

a Department of Dermatology Wake Forest School of Medicine , Winston-Salem , NC , USA.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/09546634.2017.1398396DOI Listing
August 2018
13 Reads

STAT1 Gain-of-Function and Dominant Negative STAT3 Mutations Impair IL-17 and IL-22 Immunity Associated with CMC.

J Invest Dermatol 2018 03 18;138(3):711-714. Epub 2017 Oct 18.

Chair and Institute of Environmental Medicine, UNIKA-T, Technical University Munich and Helmholtz Zentrum München-German Research Center for Environmental Health, Augsburg, Germany; CK Care, Christine Kühne Center for Allergy Research and Education, Davos, Switzerland; Outpatient Clinic for Environmental Diseases, Klinikum Augsburg, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2017.09.035DOI Listing
March 2018
14 Reads

Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report.

Pediatrics 2017 Nov 12;140(5). Epub 2017 Oct 12.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute.

Tuberculosis is a major worldwide problem, and protection from it is achieved mainly by live attenuated bacille Calmette-Guérin vaccine, which is capable of causing disease in immunocompromised host. Oral thrush is abnormal in healthy children, which suggests an underlying immunodeficiency. Mendelian susceptibility to mycobacterial disease is a rare primary immunodeficiency characterized by a selective predisposition to weakly virulent and and also predisposition to chronic mucocutaneous candidiasis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2016-1668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5654388PMC
November 2017
60 Reads

Vessel wall MRI revealing inflammation on brain aneurysm associated to chronic mucocutaneous candidiasis.

Br J Neurosurg 2017 Oct 10:1-2. Epub 2017 Oct 10.

c Division of Neurological Surgery , University of Sao Paulo, School of Medicine , Sao Paulo , Brazil.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/02688697.2017.1384794DOI Listing
October 2017
13 Reads

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.

J Allergy Clin Immunol Pract 2018 May - Jun;6(3):996-1001. Epub 2017 Sep 19.

Division of Allergy and Clinical Immunology, Icahn School of Medicine, Mount Sinai, New York, NY. Electronic address:

Background: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare condition.

Objective: Data from the USIDNET Registry provide a resource to examine the characteristics of patients with rare immune deficiency diseases.

Methods: A query was submitted to the USIDNET requesting deidentified data for patients with physician-diagnosed AD-HIES through July 2016. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaip.2017.06.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858974PMC
September 2017
33 Reads