Studies of Disorders With Increased Susceptibility to Fungal Infections

• INCLUSION CRITERIA:

Patient Participants (or simply Patient):

Patients with abnormalities of immune function as manifested by recurrent or unusual fungal infections, recurrent or chronic inflammation, or previous laboratory evidence of immune dysfunction are eligible for screening and assessment under this protocol. Of particular focus of this study are patients with:

• APECED (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
• CMC (chronic mucocutaneous candidiasis)
• MPO (myeloperoxidase deficiency)
• IPEX (immune dysregulation polyendocrinopathy enteropathy X-linked)
• Hyper-immunoglobulin E syndrome (Job s syndrome)
• CGD (chronic granulomatous disease)
• Biotinidase deficiency
• Other conditions showing increased susceptibility to such infections as described in infants and type 1 diabetic patientts

There will be no limit due to age, sex, race, or disability.

All patients must have a primary physician outside of the NIH.

Women of child-bearing potential, or who are pregnant or lactating, may be eligible and will only undergo tests and procedures, and/or receive medications that are of proven minimal risk to the fetus or child. Only diagnostic tests without radiographs will be performed.

All patients will be required to have blood stored for future studies and/or other medical conditions.

Relatives:

Relatives may be mother, father, siblings, children, grandparents, aunts, uncles, and first cousins to a patient participant.

There is no limit due to age, sex, race, or disability.

Relatives will be required to have blood stored for future studies and/or other medical conditions.

Healthy volunteers must:

Be an adult of either sex and between age of 18 and 85 years old

Have a hemoglobin concentration of greater than or equal to 11 g/dL

Weigh greater than or equal to 110 pounds

EXCLUSION CRITERIA:

Patient:

The presence of certain types of acquired abnormalities of immunity solely due to human immunodeficiency virus (HIV), chemotherapeutic agent(s), or an underlying malignancy could be grounds for possible exclusion for a subject.

Relatives:

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 relative.

Healthy volunteers are not eligible if:

Receiving chemotherapeutic agent(s), or have underlying malignancy

Pregnant or lactating

Have history of heart, lung, kidney disease, bleeding or immunologic disorders leading to significant incapacity

Have a history of recurrent or severe infections

Have a history of HIV seropositivity

Have a history of viral hepatitis (B or C)