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Protocol Details

Screening and Baseline Assessment of Patients with Abnormalities of Immune Function

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




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


Population Exclusion(s)



Inherited Disease;

Recruitment Keyword(s)

Abnormal Immune Function;
Recurrent Infection;
Chronic Granulomatous Disease;
X-Linked Severe Combined Immune Deficiency (XSCID);
Leukocyte Adhesion Deficiency 1;
Healthy Volunteer;


Chronic Granulomatous Disease (CGD);
X-Linked Severe Combined Immune Deficiency (XSCID);
Leukocyte Adhesion Deficiency 1 (LAD);
Graft Versus Host Disease (cGvHD)

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute of Allergy and Infectious Diseases

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

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To be eligible to participate in this study as a patient, an individual must meet the following criteria:

-Must be 2 years of age to be seen at the Clinical Center as an outpatient and they must not have any active infections. Send-in samples for clinical diagnosis at any age.

-Have an abnormality of immune function as manifested by:

--recurrent or unusual infections,

--recurrent or chronic inflammation, or

--previous laboratory evidence of immune dysfunction.

-Have a primary physician outside of the NIH.

Relatives of Patient:

To be eligible to participate in this study as a patient relative, an individual must meet the following criteria:

-Be a biological mother, father, sibling, child, grandparent, aunt, uncle, or first cousin to a patient.

--Sibling, child, first cousin, aunt, and uncle must be 2 years of age to be seen at the Clinical Center as an outpatient with no active infections, Send-in samples for clinical diagnosis at any age.

-Be willing to have blood stored for future studies and/or other research purposes.

Healthy Volunteers:

To be eligible to participate in this study as a healthy volunteer, an individual must meet the following criteria:

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

-Have a hemoglobin count of >=11.

-Weight greater than 110 pounds.

-Not have a history of intravenous injection drug use.

-Not have a history of engaging in high-risk activities for exposure to HIV.

-Be willing to have their blood samples stored for future research and modified to iPS cells.


Patients and Relatives of Patient:

In general, there are no strict exclusion criteria for these cohorts. However, 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 or relative of a patient. 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. Pregnant females will not be allowed to participate in any procedure that may be dangerous to the pregnancy or the fetus.

Healthy Volunteers:

An individual who meets any of the following criteria will be excluded from participation as a healthy volunteer in this study:

-Have HIV or viral hepatitis (B or C), or history of viral hepatitis B or C since age 11.

-Receiving chemotherapeutic agent(s) or have underlying malignancy.


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

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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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Principal Investigator

Referral Contact

For more information:

Harry L. Malech, M.D.
National Institute of Allergy and Infectious Diseases (NIAID)
NIHBC 10 - CRC BG RM 5-3750
(301) 480-6916

Patricia L. Littel, R.N.
National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health
Building 10
Room 1C129A
10 Center Drive
Bethesda, Maryland 20892
(301) 335-1744

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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