About this trial
Background:
\- Researchers are interested in studying disorders that make individuals more susceptible to fungal infections, specifically infections with the Candida yeast. These disorders are often related to problems with the immune system and may have genetic factors, which suggests that researchers should study not only the individual with the disorder, but also his or her first- and second-degree relatives (such as parents, siblings, children, and first cousins). To provide material for future research, individuals with immune disorders and their first- and second-degree relatives will be asked to provide blood and other samples for testing and comparison with samples taken from healthy volunteers with no history of immune disorders.
Objectives:
\- To collect blood and other biological samples to study immune disorders that make individuals more susceptible to fungal infections.
Eligibility:
* Individuals of any age who have abnormal immune function characterized by recurrent or unusual fungal infections, recurrent or chronic inflammation, or other types of immune dysfunction. * First- or second-degree genetically related family members (limited to mother, father, siblings, grandparents, children, aunts, uncles, and first cousins). * Healthy volunteers at least 18 years of age (for comparison purposes).
Design:
* Participants will provide blood samples and buccal (cells from the inside of the mouth near the cheek) samples. * Participants with immune disorders will also be asked to provide urine samples, saliva or mucosal samples, or skin tissue biopsies, and may also have imaging studies (such as x-rays) to collect information for research. * Samples may be collected at the National Institutes of Health or at other clinical locations for the samples to the sent to the National Institutes of Health. * No treatment will be provided as part of this protocol....
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Be 2 years of age to be seen at the Clinical Center as an outpatient. Children <=3 years of age must not have severe infections, as assessed by the investigator, to be seen at the Clinical Center. Send-in samples may be submitted by participants >30 days of age.
APECED
CMC
MPO
Disqualifiers
Is receiving chemotherapeutic agent(s) or has an underlying malignancy.
Is pregnant.
Has a history of heart, lung, or kidney disease, or bleeding disorders.
Has HIV or viral hepatitis (B or C), or history of viral hepatitis B or C since age 11.
Trial population
patients with primary immune deficiencies, their first and second-degree blood relatives (relatives), and individuals with other conditions that result in increased susceptibility to Candida spp. infections. This study will also include healthy volunteer adults as a source of control samples.
Trial design
Family-based
Prospective
Treatments tested in this trial
Not listed
Trial groups
Trial outcomes
Primary outcomes
characterization
Characterize and compare the clinical and laboratory features of APECED, CMC, and other primary immunodeficiencies or particular conditions (such as infancy or diabetic subjects) with increased susceptibility to Candida or other fungal infections.
Determine the prevalence of mutation
Determine the prevalence of AIRE mutations in patients with increased susceptibility to Candida or other fungal infections.
genotype-phenotype correlation
Establish a genotype-phenotype correlation in patients with different AIRE mutations.
Determine and compare the functionality
Determine and compare the functional integrity of Th17, Dectin1, and AIRE pathways in patients with increased susceptibility to Candida or other fungal infections with and without AIRE mutations
Sponsors and contacts
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