This study is currently recruiting participants.
Number
10-I-0216
Sponsoring Institute
National Institute of Allergy and Infectious Diseases (NIAID)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: N/A Max Age: N/A
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
PID; Primary Immune Deficiencies; Candida; Immune Abnormalities; Diabetic; Natural History
Recruitment Keyword(s)
Condition(s)
Fungal Infections; Primary Immune Deficiencies
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Institute of Allergy and Infectious Diseases
- 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.
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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)
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.
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)
Principal Investigator
Referral Contact
For more information: