Natural History of Individuals With Immune System Problems That Lead to Fungal Infections
- 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.
- To collect medical information and samples for a long-term study of people with immune system problems that lead to fungal infections.
- 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.
- 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.
Chronic Mucocutaneous Candidiasis
|Official Title:||The Natural History, Immunologic Correlates and Genetic Defects in Patients With Mucocutaneous and Invasive Fungal Infections|
|Study Start Date:||June 2011|
This protocol is a natural history study designed to investigate the clinical, microbiologic, genetic and immunologic correlates of primary immune deficiencies and other conditions associated with mucocutaneous and invasive fungal infections (IFIs). The hypothesis is that chronic mucocutaneous mycoses and IFIs are caused by abnormalities in immune function in these patients that can be identified using modern methods in molecular and cell biology and immunology. For inclusion, patients must have a history of or an active mucocutaneous or invasive fungal infection, but may or may not have a defined primary or acquired immunodeficiency state. Patients will undergo evaluations that include history/physical examination and blood, saliva, and possible tissue sampling for genetic and immunological testing. Patient relatives may also be screened for clinical, microbiological, genetic and/or immunological correlates of host defense abnormalities. Healthy volunteers will be enrolled as a source of control blood, saliva, and possible tissue sampling, and for genetic testing.
The aim of this protocol is to use modern methods in molecular and cell biology and immunology to elucidate the immunopathogenesis of fungal disease in humans. A better understanding of primary immunodeficiency and identification of fungal and host risk factors for fungal infection may provide new insights into pathogenesis and identify targets for development of novel therapies. Enrolled subjects may be followed for up to 10 years to undergo additional clinical evaluation and sampling. Follow-up may occur every 6 months or more frequently depending on clinical course, the underlying risk factor(s), and the type of fungal infection. Under some circumstances, standard medical treatment will be provided for a fungal infection or immune deficiency.
|Contact: Cathleen Frein, R.N.||(301) email@example.com|
|Contact: Michail S Lionakis, M.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Michail S Lionakis, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|