真菌感染症につながる免疫系の問題を持つ個人の自然史

The study population will be drawn from referrals from the NIH Clinical Center staff, physicians at outside medical facilities, the Clinical Center Volunteer Program, and self-referrals. Patients may be evaluated as inpatients, or at the NIAID outpatient clinic depending on the severity of the clinical manifestations of their infection. The patients genetic relatives will be evaluated at the NIAID outpatient clinic. Patients or relatives who meet the inclusion and/or exclusion criteria, but who are not able to travel to the NIH Clinical Center may be enrolled in the study and evaluated for immune and genetic defects using send-in blood samples or clinical specimens (e.g., previously obtained biopsy specimens or saliva). Healthy volunteers must be seen at NIH and will not have the option to mail in samples.

• INCLUSION CRITERIA:

Patients:

Patients with or without inherited or acquired abnormalities of immune function manifesting mucocutaneous and/or invasive fungal infections are eligible for screening and assessment under this protocol. Specifically, patients must meet all the following inclusion criteria in order to participate in this study:

Adults or children (regardless of age, sex, or ethnicity/race) with a known or yet uncharacterized inherited immunodeficiency and a definitively diagnosed mucocutaneous or invasive fungal infection.

OR

Adults or children (regardless of age, sex, or ethnicity/race) with acquired immunodeficiency and a severe, unusual, persistent or treatment-refractory chronic mucocutaneous fungal infection.

OR

Adults or children (regardless of age, sex, or ethnicity/race) with acquired immunodeficiency and a possible, probable or proven invasive fungal infection (European Organization for Research and Treatment of Cancer / Mycoses Study Group criteria).

OR

Adults or children (regardless of age, sex, or ethnicity/race) with a well-documented prior, unusual, severe, persistent, or treatment-refractory mucocutaneous or invasive fungal infection(s), who have clinically recovered from the fungal infection.

OR

Adults or children (regardless of age, sex, or ethnicity/race) with confirmed or suspected autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) who have not yet developed CMC.

Ongoing care by a referring/primary care physician (inside or outside NIH).

Willing to allow storage of blood and tissue samples for future analyses.

Willing to allow genetic testing from blood, body fluids or tissue specimens.

Willing to have HIV testing

Able to provide informed consent or be accompanied by a parent(s)/legal guardian(s) or legally authorized representative (LAR) who is able to provide informed consent.

No children under the age of 2 years will be seen at the Clinical Center, however they will be able to participate via mail-in specimens

Patient Relatives:

Individuals (regardless of age, sex, or ethnicity/race) who are genetically related to the patient (e.g., mother, father, siblings, children) may be recruited to establish the genetic origin of immune defects that may be identified in the study patients at the discretion of the PI. Relatives must meet all the following inclusion criteria in order to participate in this study:

Willing to allow storage of blood and tissue samples for future analyses.

Willing to allow genetic testing from blood, body fluids or tissue specimens.

Willing to have HIV testing

Able to provide informed consent or, if younger than 18, be accompanied by a parent(s)/legal guardian(s) who is able to provide informed consent.

Healthy Volunteers:

Healthy adults regardless of sex, and ethnicity/race between the ages of 18 and 85 years old may be eligible to participate in this study. Healthy volunteers must meet all the following inclusion criteria in order to participate in this study:

Willing to allow storage of blood and tissue samples for future analyses.

Willing to allow genetic testing from blood, body fluids or tissue specimens.

Willing to have HIV testing

Able to provide informed consent

NIH employees are eligible

EXCLUSION CRITERIA:

Patients:

A patient will not be eligible if he/she has any of the following:

Any condition which, in the investigator's opinion, may interfere with the evaluation of a co-existing abnormality of immunity that is the subject of study under this protocol.

Any condition which, in the investigator's opinion, places the patient at undue risk by participating in the study.

Unwillingness to undergo testing or procedures associated with this protocol.

Hemoglobin of < 7 gm/dL. If a patient is enrolled solely to obtain left-over pathology specimens, saliva, a buccal sample, skin swab, vaginal swab, or a stool sample, this exclusion criteria will not apply as there will be no blood withdrawal.

Patient Relatives:

A genetically related relative will not be eligible for this study if he/she has any condition which, in the investigator's opinion, may interfere with the evaluation of an immune system abnormality that is the subject of study under this protocol.

Healthy Volunteers:

A healthy volunteer will not be eligible if he/she has any of the following:

HIV infection.

History of recurrent or severe infections.

History of an underlying malignancy or receipt of cancer chemotherapy within the past 5 years

Receipt of systemic corticosteroids or other systemic immunosuppressants or immunomodulators within the past 30 days

Pregnancy or lactating

History of heart, lung, kidney disease, or bleeding disorders.

Any condition which, in the investigator's opinion, may interfere with the comparison of clinical specimens against those obtained from affected subjects.