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 firstand 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.

Eligibility

• 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.
        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)