The Natural History and Pathogenesis of Human Fungal Infections
Background: \- 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 25 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....
• Patients:
• Patients with or without inherited or acquired abnormalities of immune function manifesting mucocutaneous and/or invasive fungal infections are eligible for screening and assessment under this protocol. Specifically, patients must meet all the following inclusion criteria in order to participate in this study:
• Adults or children (regardless of age, sex, or ethnicity/race) with a known or yet uncharacterized inherited immunodeficiency and a definitively diagnosed mucocutaneous or invasive fungal infection.
• OR
• Adults or children (regardless of age, sex, or ethnicity/race) with acquired immunodeficiency and a severe, unusual, persistent or treatment-refractory chronic mucocutaneous fungal infection.
• OR
• Adults or children (regardless of age, sex, or ethnicity/race) with acquired immunodeficiency and a possible, probable or proven invasive fungal infection (European Organization for Research and Treatment of Cancer / Mycoses Study Group criteria).
• OR
• Adults or children (regardless of age, sex, or ethnicity/race) with a well-documented prior, unusual, severe, persistent, or treatment-refractory mucocutaneous or invasive fungal infection(s), who have clinically recovered from the fungal infection.
• OR
• Adults or children (regardless of age, sex, or ethnicity/race) with confirmed or suspected autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) who have not yet developed CMC.
• Ongoing care by a referring/primary care physician (inside or outside NIH).
• Willing to allow storage of blood and tissue samples for future analyses.
• Willing to allow genetic testing from blood, body fluids or tissue specimens.
• Willing to have HIV testing
• Able to provide informed consent or be accompanied by a parent(s)/legal guardian(s) or legally authorized representative (LAR) who is able to provide informed consent.
• No children under the age of 2 years will be seen at the Clinical Center, however they will be able to participate via mail-in specimens
• Patient Relatives:
• Individuals (regardless of age, sex, or ethnicity/race) who are genetically related to the patient (e.g., mother, father, siblings, children) may be recruited to establish the genetic origin of immune defects that may be identified in the study patients at the discretion of the PI. Relatives must meet all the following inclusion criteria in order to participate in this study:
• Willing to allow storage of blood and tissue samples for future analyses.
• Willing to allow genetic testing from blood, body fluids or tissue specimens.
• Willing to have HIV testing
• Able to provide informed consent or, if younger than 18, be accompanied by a parent(s)/legal guardian(s) who is able to provide informed consent.
• Healthy Volunteers:
• Healthy adults regardless of sex, and ethnicity/race between the ages of 18 and 85 years old may be eligible to participate in this study. Healthy volunteers must meet all the following inclusion criteria in order to participate in this study:
• Willing to allow storage of blood and tissue samples for future analyses.
• Willing to allow genetic testing from blood, body fluids or tissue specimens.
• Willing to have HIV testing
• Able to provide informed consent
• NIH employees are eligible