Studies of Disorders With Increased Susceptibility to Fungal Infections

Description

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.

Conditions

Fungal Infections, Primary Immune Deficiencies

Study Overview

Study Details

Study overview

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.

Studies of Disorders With Increased Susceptibility to Fungal Infections

Studies of Disorders With Increased Susceptibility to Fungal Infections

Condition
Fungal Infections
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • * 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.
  • * 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.

Ages Eligible for Study

18 Years to 85 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

National Institute of Allergy and Infectious Diseases (NIAID),

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

Study Record Dates

N/A