Natural History of Individuals With Immune System Problems That Lead to Fungal Infections
Chronic Mucocutaneous CandidiasisInvasive Aspergillosis2 moreBackground: - The immune system is made up of special cells, tissues, and organs that fight infections. Problems with this system may lead to frequent, severe, or unusual fungal infections. These infections are often difficult to treat. Researchers want to collect blood and tissue samples from people who have unusual, persistent or severe fungal infections or immune problems that increase the risk of these infections. Objectives: - To collect medical information and samples for a long-term study of people with immune system problems that lead to fungal infections. Eligibility: People with a history of fungal infections caused by immune system problems. Parents, children, and siblings of this group. Healthy volunteers not related to the first two groups. Design: This long-term study may last for up to 10 years. Those in the study may need to provide new information about every 6 months. The procedures for each person may vary with the particular diagnosis and the extent of fungal infection. Healthy volunteers may have only one or two visits. At the first visit, those in the study will have a full medical history and physical exam. They will also provide blood. Research procedures may include the following: Saliva, urine or stool testing Mouthwash collection for DNA testing Collection of cheek cells, nail clippings, or vaginal fluid Tests of leftover tissue or body fluid from previous medical procedures Skin or oral mucous membrane biopsy Collection of white blood cells Followup visits will involve a physical exam and updated medical history. Blood, saliva, urine, or nail clipping samples may be taken for ongoing studies. Any additional tests or exams required by the study doctors may also be done. Participants may withdraw from the study pool at any time.
Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome...
InfectionsPneumonia3 moreThe Hyper IgE Syndromes (HIES) are primary immunodeficiencies resulting in eczema and recurrent skin and lung infections. Autosomal dominant Hyper IgE syndrome (AD-HIIES; Job's syndrome) is caused by STAT3 mutations, and is a multi-system disorder with skeletal, vascular, and connective tissue manifestations. Understanding how STAT3 mutations cause these diverse clinical manifestations is critical to our complete understanding of bone metabolism, bronchiectasis, dental maturation, and atherosclerosis. Bi-allelic mutations in DOCK8 cause a combined immunodeficiency previously described as autosomal-recessive Hyper IgE syndrome. These individuals suffer from extensive viral infections as well as have a high incidence of malignancy and mortality. The pathogenesis of this disease and long-term natural history is being investigated. Therefore, we seek to enroll patients and families with a confirmed or suspected diagnosis of HIES syndrome for extensive phenotypic and genotypic study as well as disease management. Patients will be carefully examined by a multidisciplinary team and followed longitudinally. Through these studies we hope to better characterize the clinical presentation of STAT3-mutated HIES, DOCK8 deficiency and other causes of the hyper IgE phenotype, and to be able to identify further genetic etiologies, as well as understand the pathogenesis of HIES. We seek to enroll 300 patients and 300 relatives.
EVITA Study - Epstein-Barr Virus Infection moniToring in renAl Transplant Recipients
EBV InfectionEBV Viremia2 moreTransplant recipients are treated with immunosuppressive drugs to avoid rejection of the transplanted organ. As the medication impairs the immune response, it also increases the risk of serious infections and cancer in transplant recipients compared with the general population. Previous studies have shown a close association between Epstein-Barr virus (EBV) and post transplant lymphoproliferative disorder (PTLD), with frequent demonstration of the virus in lesional tissues. Transplant recipients without evidence of EBV infection prior to transplantation (EBV seronegative) are at particularly high risk of developing PTLD. Other risk factors include a high viral load. As part of a preventive approach against PTLD, several transplantation units now monitor the occurrence of EBV DNAemia after transplantation. However, there is little evidence to guide this strategy; nor is there consensus concerning either the best specimen to use for EBV analysis (whole blood or plasma) or the appropriate clinical action to take if EBV DNAemia is detected. Our aim is to estimate the incidence and clinical consequences of Epstein-Barr virus (EBV) DNAemia in whole blood and plasma in renal transplant recipients, and to determine if persistence of EBV DNAemia can predict excessive immunosuppression as indicated by the incidence of infections requiring hospitalisation, EBV driven PTLD and mortality.
Early Discrimination of Periprosthetic Hip Infections Using Neural Networks (SEPTIC-ANNR)
Hip Prosthesis InfectionThe study is about the role of cellular neural networks-genetic algorithm in the diagnosis of periprosthetic hip infections. A retrospective case series of septic and aseptic loosening of primary hip arthroplasties is selected. The diagnosis of septic loosening is made according to well-established criteria (CDC 2014 and culture samples). The serial radiographs of the selected patients are processed using cellular neural networks-genetic algorithm. The purpose of this study is to evaluate whether neural networks (cellular neural networks-genetic algorithm), applied to conventional radiographies, are accurate, sensitive and specific for the early-discrimination of a periprosthetic hip infection, already diagnosed with well-recognized methods (CDC 2014).
Screening for HPV and Cervical Cancer in Young Women With Perinatally Acquired HIV
HIV InfectionsHuman Papillomavirus Infection1 moreThis is a cross-sectional, observational study of high-risk HPV status, cervical cytology and HPV vaccine uptake and response in young women with perinatally acquired HIV.
Innovative Central Line Securement Device in the Pediatric Population
Central Line ComplicationCentral Line Infection5 moreThis study involves evaluating pediatric patients with central lines to determine differences in line complications and quality of life in those with a novel central line securement device (wrap) as compared to those who use a traditional securement device (dressing).
Natural History of Clostridioides Difficile Infection
Clostridium Difficile InfectionHealth Care Associated Infection1 moreAim: To investigate if host factors, such as composition and diversity of intestinal microbiota and/or genetic determinants, are associated with a higher risk of recurrence of Clostridioides difficile infection (CDI). To generate a predictive tool based on epidemiological, clinical, genetic and microbiologic variables aimed to identify patients at a higher risk of CDI recurrence in a context of optimized ICD management. Design: Multicenter prospective cohort study. Patients: Older than 18 years patients with CDI diagnosis, made by IDSA criteria, in the participant centers. Follow-up: A stewarship program aimed to improve CDI management, including early detection of CDI recurrence, will be implemented in the participant centers. Blood samples for genetic testing and stool samples for intestinal microbiome studies will be collected. Variables and data analysis: The primary outcome variable will be the emergence of CDI recurrence. Potential independent predictors of recurrence, including genetic and microbiological factors, will be assessed. A predictive tool based on independent predictors of recurrence will be built in a development subpopulation. The performance of the model will be assessed by ROC curves, and sensititvity, especificity, as well as negative and positive predictive values will be calculated, both in the development subpopulation and in a validation subset.
Microbiome Therapy in Covid-19 Primary Care Support
SARS-CoV InfectionCorona Virus InfectionThis double-blind, randomized, placebo-controlled study aims to investigate whether a throat spray containing probiotic bacteria (i.e. microbiome spray) can reduce the symptoms and complaints of the SARS-CoV-2 virus in patients with mild to moderate symptoms. In addition, the aim is to investigate whether the microbiome spray can prevent transmission of the SARS-CoV-2 virus to household members.
Lung Structure-Function In SurVivors of Mild and SEvere COVID-19 Infection: 129Xe MRI
COVID-19 Respiratory InfectionIn this study the Investigators aim to deploy UTE and HP 129Xe MRI for structural and functional evaluation of persistent lung abnormalities in COVID-19 survivors.
Infection With Respiratory Syncytial Virus in Infants
Respiratory Syncytial Virus InfectionsRespiratory Syncytial Virus (RSV)1 moreIRIS (Infection with RespIratory Syncytial Virus) is an observational, multi-center study enrolling infants with severe RSV infection and healthy controls. Inclusion criteria are age below two years and hospitalization due to RSV infection at three German sites. Exclusion criteria are premature birth, congenital or acquired bronchopulmonary or cardiac diseases, and immunodeficiency. Blood and respiratory specimens are collected upon admission, and RSV and other pathogens are analyzed by multiplex polymerase chain reaction (PCR). Further biomaterials including plasma, nasal lining fluid, blood cells, DNA, and RNA specimens are sampled in a dedicated biobank. Detailed information on demographic characteristics and medical history is recorded, as well as comprehensive clinical data including vital signs, medication, and interventions.