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.
None
None
The study population will be drawn from referrals from the NIH Clinical Center staff, physicians at outside medical facilities, the Clinical Center Volunteer Program, and self-referrals. Patients may be evaluated as inpatients, or at the NIAID outpatient clinic depending on the severity of the clinical manifestations of their infection. The patients genetic relatives will be evaluated at the NIAID outpatient clinic. Patients or relatives who meet the inclusion and/or exclusion criteria, but who are not able to travel to the NIH Clinical Center may be enrolled in the study and evaluated for immune and genetic defects using send-in blood samples or clinical specimens (e.g., previously obtained biopsy specimens or saliva). Healthy volunteers must be seen at NIH and will not have the option to mail in samples.
Cohort
Prospective
Not listed
Immunological mechanisms of fungal susceptibility
Characterize and understand the immunological mechanism(s) by which inherited immunodeficiencies or acquired conditions increase susceptibility to mucocutaneous and invasive fungal infections.
Determine microbiologic test usefullness
Determine the usefulness of various microbiologic tests (e.g., cultures, serology, molecular assays) for diagnosis and follow-up of the course of fungal infections.
Determine immunological profile of mucosal fungal infections
Define the transcriptional profiles and perform proteomic and microbiome analyses of skin, oral and/or vaginal mucosa, and/or other tissues, and body fluids of patients with inherited or acquired conditions predisposing them to fungal infections.
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