Protocol Number: 05-I-0213

Title:

Screening and Baseline Assessment of Patients with Abnormalities of Immune Function

Number:

05-I-0213

Summary:

This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation. This may include inherited conditions, such as X-linked severe combined immunodeficiency (XSCID), chronic granulomatous disease (CGD), and leukocyte adhesion deficiency (LAD), or conditions resulting from outside factors, such as graft-versus-host disease (GVHD). The information from this study will be used to establish the pattern and pace of change of the disease and to help develop new treatments. The period of observation and study following enrollment in this study may be for up to one year. In addition these studies may provide the medical information needed to determine eligibility for enrollment in other clinical study protocols and more prolonged follow up.

Patients of any age with abnormal immune function who have recurrent or unusual infections, whose blood tests show evidence of immune dysfunction, or who have GVHD, XSCID, CGD or LAD may be eligible for this study. Patients' parents, siblings, grandparents, children, aunts, uncles and first cousins of any age also may be included. Healthy normal volunteers between 18 and 85 years of age are recruited as controls.

Normal volunteers undergo a physical examination and provide blood, saliva, and urine samples for immune function studies. Patients' family members provide a medical history, have a physical examination, and give blood and urine samples, and possibly a saliva sample. The samples are used for genetic and routine laboratory studies. Investigators may request tissue samples, such as biopsy specimens, previously removed for medical reasons to be sent to NIH for study. Patients undergo the following tests and procedures:

1. Medical history and physical examination.

2. Blood and urine tests, including analysis for genes involved in immune disorders.

3. Buccal smear (in some patients) for genetic studies. This involves scraping the lining of the mouth near the cheek.

4. Specialized tests to evaluate specific conditions in patients who have an immune disorder that might affect lung function, gum infections or eye problems. These may include chest x-ray, CT scan, breathing function test, dental, eye, and hearing examinations.

5. Follow-up visits of patients with immune problems may occur at 6 months and at one year after the first visit (or more frequently if medically required) to include:

-Medical history update

-Physical examination

-Follow-up on abnormal test results and medical treatments initiated at NIH

-Collection of blood, saliva, urine, or wound drainage samples for repeat immune function studies

-Tissue study of specimens removed for medical reasons at other institutions besides NIH

Sponsoring Institute:

National Institute of Allergy and Infectious Diseases (NIAID)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA

Patients:

-Patients with abnormalities of immune function as manifested by recurrent or unusual infections, recurrent or chronic inflammation, or previous laboratory evidence of immune dysfunction are eligible for screening and baseline assessment under this protocol.

-Of particular focus of this study are patients with clinical features or medical history suggestive of Chronic Granulomatous Disease (CGD), X-linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD) or chronic Graft versus Host Disease (cGvHD).

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

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

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

Relatives of Patient:

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

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

Normal Volunteers must:

-Be a healthy adult of either sex and between age of 18 and 85 years old.

-Have a hemoglobin count of 12.5 and hemocrit of 38%.

-Weight greater than 110 pounds.

-Not have any heart, lung, or kidney disease, or bleeding disorders.

-Not have a history of viral hepatitis (B or C) since age 11.

-Not have a history of intravenous injection drug use.

-Not have a history of engaging in high-risk activities for exposure to the AIDS virus.

EXCLUSION CRITERIA

Patients:

-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 patient.

- In the opinion of the investigator, the presence of such disease processes may interfere with the evaluation of a co-existing abnormality of immunity that is the subject of study under this protocol.

Relatives of Patient:

-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.

-In the opinion of the investigator, the presence of such disease processes may interfere with evaluation of a co-existing abnormality of immunity that is the subject of study under this protocol.

Normal Volunteer not eligible if:

-Less than 18 years old or older than 85 years.

-Have viral hepatitis (B or C).

-Hemoglobin less than 12.5 and hematocrit less than 38%.

-Receiving chemotherapeutic agent(s), or have underlying

malignancy.

-Have history of heart, lung, kidney disease, or bleeding disorders

Special Instructions:

Currently Not Provided

Keywords:

CGD

LAD

XSCID

cGVHD

Infection

Recruitment Keyword(s):

Abnormal Immune Function

Recurrent Infection

Chronic Granulomatous Disease

CGD

X-Linked Severe Combined Immune Deficiency (XSCID)

XSCID

Leukocyte Adhesion Deficiency 1

LAD

Healthy Volunteer

HV

Condition(s):

Immune System Diseases

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Institute of Allergy and Infectious Diseases

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993 Apr 9;73(1):147-57.

Puck JM, Deschenes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, Henthorn PS. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet. 1993 Aug;2(8):1099-104.

Stephan JL, Vlekova V, Le Deist F, Blanche S, Donadieu J, De Saint-Basile G, Durandy A, Griscelli C, Fischer A. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr. 1993 Oct;123(4):564-72.

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