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Protocol Details

Molecular and Clinical Studies of Primary Immunodeficiency Diseases

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: No longer recruiting/follow-up only
Gender: Male & Female
Min Age: 3
Max Age: N/A

Referral Letter Required


Population Exclusion(s)



X-Linked Agammagloblinemia;
Wiskott-Aldrich Syndrome;
Jak-3 SCID;
X-Linked SCID;
X-Linked Hyper-IgM Syndrome;
Natural History

Recruitment Keyword(s)



Wiskott- Aldrich Syndrome;
ADA deficient SCID

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Human Genome Research Institute

This study will try to identify mutations in the genes responsible for primary immunodeficiency disorders (inherited diseases of the immune system) and evaluate the course of these diseases in patients over time to learn more about the medical problems they cause. The immune system is composed of various cells (e.g., T and B cells and phagocytes) and other substances (complement system) that protect the body from infections and cancer. Abnormalities in the gene(s) responsible for the function of these components can lead to serious infections and other immune problems.

Patients with Wiskott-Aldrich syndrome, adenosine deaminase (ADA) deficiency. Participants will undergo a medical and family history, physical examination, and additional procedures and tests that may include the following:

1. Blood tests for: routine laboratory studies (i.e. cell counts, enzyme levels, electrolytes, etc.); HIV testing; immune response to various substances; genetic testing; and establishment of cell lines to maintain a supply of cells for continued study

2. Urine and saliva tests for biochemical studies

3. Skin tests to assess response to antigens such as the viruses and bacteria responsible for tetanus, candida, tuberculosis, diphtheria, chicken pox, and other diseases.

4. Skin and lymph node biopsies for tissue and DNA studies

5. Chest X-ray, CT scans, or both to look for cancer or various infections.

6. Pulmonary function test to assess lung capacity and a breath test to test for H. pylori infection.

7. Dental, skin and eye examinations.

8. Treatment with intravenous immunoglobulins or antibodies to prevent infections.

9. Apheresis for collecting white blood cells to study cell function. In this procedure, whole blood is collected through a needle placed in an arm vein. The blood circulates through a machine that separates it into its components. The white cells are then removed, and the red cells, platelets and plasma are returned to the body, either through the same needle or through a second needle placed in the other arm.

10. Bone marrow sampling to study the disease. A small amount of marrow from the hipbone is drawn (aspirated) through a needle. The procedure can be done under local anesthesia or light sedation.

11. Placental and umbilical cord blood studies, if cord blood is available, to study stem cells (cells that form blood cells).

Information gained from this study may provide a better understanding of primary immunodeficiencies, leading to better diagnosis and treatment. In addition, study participants may receive medical and genetic counseling and may be found eligible for other NIH studies on these diseases.

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Patients with a clinical history or signs and symptoms suggestive of a primary immune deficiency syndrome and their family members are eligible for inclusion in this study and they may be referred by their physician or self-referred. If possible, a local physician/clinical immunologist will be identified for self-referred patients to serve as primary reference. If screening of the patients, either by phone interview or review of their medical records indicates that the patient may have a primary immunodeficiency syndrome and is HIV-negative, the patient will be invited to come to the NIH and sign an informed consent. If family history is positive for immunodeficiency, the patients or family members may be asked to invite other relatives to contact the PI to participate in the study.

Patients who were enrolled under such inclusion criteria may continue to be seen under the protocol under the medical advisory supervision of Dr. Harry Malech. New enrollments will be limited to children with established and verified diagnosis of ADA-SCID cared for by our collaborators at UCLA and from whom we will only

receive blood samples.


Inability of the subject or the subject s parent/guardian to provide informed consent.

Patients infected with the Human Immunodeficiency Virus before enrollment.

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Not Provided

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Principal Investigator

Referral Contact

For more information:

Elizabeth K. Garabedian, R.N.
National Human Genome Research Institute (NHGRI)
National Institutes of Health
Building 10
Room 3C710
10 Center Drive
Bethesda, Maryland 20892
(301) 435-2443

Elizabeth K. Garabedian, R.N.
National Human Genome Research Institute (NHGRI)
National Institutes of Health
Building 10
Room 3C710
10 Center Drive
Bethesda, Maryland 20892
(301) 435-2443

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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