Protocol Number: 00-HG-0209

Title:

Molecular and Clinical Studies of Primary Immunodeficiency Diseases

Number:

00-HG-0209

Summary:

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, Janus Associated Kinase 3 (JAK3) deficiency, common variable immunodeficiency (CVID) and other immunodeficiencies may be eligible for this study. 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.

Sponsoring Institute:

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Patients with a clinical history or signs and symptoms suggestive of a primary immune deficiency syndrome may be referred by their physician or self referred 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 the 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.

EXCLUSION CRITERIA:

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

Patients infected with the Human Immunodeficiency Virus before enrollment.

Special Instructions:

Currently Not Provided

Keywords:

X-Linked Agammagloblinemia

Wiskott-Aldrich Syndrome

Jak-3 SCID

X-Linked SCID

X-Linked Hyper-IgM Syndrome

Primary Immunodeficiencies

ADA-SCID

CVID

Recruitment Keyword(s):

None

Condition(s):

Immunologic Deficiency Syndrome

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Human Genome Research Institute

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): Not Provided

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Clinical Research Informatics, CC.

Search The Studies | Help | Questions |
Clinical Center Home | NIH Home

National Institutes of Health Clinical Center Bethesda, Maryland 20892. Last update: 01/13/2009