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Observational Study of Fungal Infections and Immune Deficiencies

This study is looking at disorders that make people more likely to get fungal infections, especially those caused by Candida yeast. These conditions often involve problems with the immune system and may have a genetic link. Researchers want to understand these disorders better by studying patients with primary immune deficiencies (like APECED, CMC, or Job's syndrome) and their close family members. They will also study healthy volunteers. The goal is to understand the characteristics of these conditions, find out how common certain genetic changes are, and see how genes relate to symptoms over 10 years. You can join if you are between 2 and 85 years old and have one of these conditions or are a family member.

Study design
This is an observational study that plans to enroll 850 participants. It is not testing a specific intervention or drug.
What's involved
Participants will undergo evaluations, including a history/physical exam, blood sampling, genetic testing, and possibly tissue sampling. The study involves long-term follow-up.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for 10 years to characterize their condition, determine mutation prevalence, and study genotype-phenotype correlation.

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NCT01222741

Studies of Disorders With Increased Susceptibility to Fungal Infections

Recruiting
Not specifiedAges 18–85Observational
National Institute of Allergy and Infectious Diseases (NIAID)
~850 participants
Updated 2026-08-24 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
characterization
Measured over 10 years
+3 more outcomes measured

Conditions

Fungal Infections
Primary Immune Deficiencies

Explore related trials

Fungal InfectionInborn Error of Immunity

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Sergio D Rosenzweig, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)

Who to contact

Sergio D Rosenzweig, M.D.
[email protected]
(301) 451-8971
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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.
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.
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

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.

What this trial measures

  • characterization10 years

    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 mutation10 years

    Determine the prevalence of AIRE mutations in patients with increased susceptibility to Candida or other fungal infections.

  • genotype-phenotype correlation10 years

    Establish a genotype-phenotype correlation in patients with different AIRE mutations.

  • Determine and compare the functionality10 years

    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