- 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.
- To collect blood and other biological samples to study immune disorders that make
individuals more susceptible to fungal infections.
- 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
- 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).
- 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....
||Time Perspective: Prospective
|Ages Eligible for Study:||N/A|
|Genders Eligible for Study:||Both|
|Accepts Healthy Volunteers:||Accepts Healthy Volunteers|
- INCLUSION CRITERIA:
Subjects 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 subjects 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 subjects
There will be no limit due to age, sex, race, or disability.
All subjects 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
All subjects will be required to have blood stored for future studies and/or other medical
Relatives of Subject:
Relatives may be mother, father, siblings, children, grandparents, aunts, uncles, and
first cousins to a subject.
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
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
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 of Subject:
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
Have a history of recurrent or severe infections
Have a history of HIV seropositivity
Have a history of viral hepatitis (B or C)