Studies of Disorders With Increased Susceptibility to Fungal Infections

• 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.