Scientists seek clues to fungal infections in immune system study
NCT ID NCT01222741
First seen Jun 27, 2026 · Last updated Aug 25, 2026 · Updated 8 times
Summary
This study aims to understand why some people are more prone to fungal infections, especially from Candida yeast. Researchers will collect blood, saliva, urine, and tissue samples from people with immune disorders, their family members, and healthy volunteers. No treatment is given; the goal is to learn about the genetic and immune factors behind these infections.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 850 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Jan 2011
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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.
- Ages
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18 to 85 years
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* INCLUSION CRITERIA: Patients To be eligible to participate in this study as a patient, an individual must meet the following criteria: * 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. * Have an abnormality of immune function as manifested by recurrent or unusual fungal infections, recurrent or chronic inflammation, or previous laboratory evidence of immune dysfunction. Of particular focus of this study are patients with: * APECED * CMC * MPO * IPEX * Hyper-immunoglobulin E syndrome (Job s syndrome) * CGD * Biotinidase deficiency * IKAROS defects * AIOLOS defects * IRF4 defects * Other conditions showing increased susceptibility to such infections as described in infants and type 1 diabetic patients * Have a primary physician outside of the NIH. * Agree to have blood stored for future research. * Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document. Relatives To be eligible to participate in this study as a relative, an individual must meet the following criteria: * 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 for participants \>30 days of age. * Be a mother, father, sibling, child, grandparent, aunt, uncle, or first cousin to a patient participant. * Adult relatives must be able to provide informed consent. * Agree to have blood stored for future research. Healthy volunteers To be eligible to participate in this study as a healthy volunteer, an individual must meet the following criteria: * Be 18 to 85 years old. * Have a hemoglobin count of \>11 g/dL. * Weigh \>=110 pounds. * Be able to provide informed consent. * Be willing to have blood stored for future research. EXCLUSION CRITERIA: Patients and Relatives In general, there are no strict exclusion criteria for these cohorts. However, the presence of certain types of acquired abnormalities of immunity solely due to HIV, chemotherapeutic agent(s), or an underlying malignancy could be grounds for possible exclusion for a patient or relative. In the opinion of the investigator, the presence of such disease processes may interfere with evaluation of a co-existing abnormality of immunity that is the subject of study under this protocol. Pregnant females will not be allowed to participate in any procedure that may be dangerous to the pregnancy or the fetus. Healthy volunteers An individual who meets any of the following criteria will be excluded from participation as a healthy volunteer in this study: * 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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
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