RecruitingNot Applicable

Studies of Disorders With Increased Susceptibility to Fungal Infections

United States850 participantsStarted 2011-01-07

Plain-language summary

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.

Who can participate

Age range18 Years – 85 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

* 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 Cli…

What they're measuring

characterization

Timeframe: 10 years

Determine the prevalence of mutation

Timeframe: 10 years

genotype-phenotype correlation

Timeframe: 10 years

Determine and compare the functionality

Timeframe: 10 years

Trial details

NCT IDNCT01222741

SponsorNational Institute of Allergy and Infectious Diseases (NIAID)

Sponsor typeNIH

Study typeOBSERVATIONAL

Contact for this trial

Sergio D Rosenzweig, M.D.

(301) 451-8971 srosenzweig@mail.nih.gov

View on ClinicalTrials.gov More Fungal Infections trials

Plain-language summary

Who can participate

Age range18 Years – 85 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.