Protocol Details

Genetic Analysis of Immune Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	95-I-0066
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	Yes
Population Exclusion(s)	None
Special Instructions	Only certain types of immune disease are in active enrollment at any given time. Check with Research Contact person for details. At this time, the protocol is not recruiting healthy volunteers.
Keywords	X-Linked SCID (XSCID); Primary Immunodeficiency; Severe Combined Immune Deficiency (SCID); Hyper-IgE Syndrome (HIES); Autoimmune Lymphoproliferative Syndrome (alps)
Recruitment Keyword(s)	Immunologic Disorders
Condition(s)	Healthy; Immunologic Deficiency Syndrome; Job's Syndrome; Severe Combined Immunodeficiency
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Institute of Allergy and Infectious Diseases

The purposes of this study are to 1) identify the genes responsible for certain immune disorders, 2) learn about the medical problems they cause, and 3) learn how to predict who is likely to develop these disorders and what the risk is of passing them on to children. The immune system is the body's defense system. Some immune deficiencies impair a person's ability to fight infections; others render a person susceptible to allergies, or to autoimmune diseases such as lupus or arthritis, in which the immune cells (white blood cells) attack and destroy the body's own tissues.

Patients with immune disorders known or suspected to have a genetic basis and their family members may enroll in this study. Eligibility will be determined by a review of the patient's medical records and family medical history. Participants will provide a small blood sample for genetic (DNA) and white blood cell analysis. Gene samples (but not white blood cells) may also be obtained by mouth brushing or skin biopsy. For the mouth brushing, a small brush is rubbed against the inside of the cheeks for 1 minute to wipe off some cells. For the skin biopsy, a small circle of skin (about 1/8 inch) is removed under local anesthetic. Pregnant women may be asked to provide a fetal sample (amniotic fluid cells or chorionic villus sample). All samples will be used for immune or genetic studies of the family's immune disorder.

If test results show a specific genetic variation responsible for the family's immune disorder, a report will be sent to the patient's doctor or genetic counselor, who will discuss the implications for the family. NIH researchers and genetic counselors will also be available to explain results and answer questions. Information will not be available in the case of disorders that cannot yet be linked to a specific genetic abnormality.

Information from this study will increase knowledge about the immune system and what causes immune deficiencies. Participants may also learn the underlying cause of an immune disorder that affects them or someone in their family-information may be useful in guiding treatment and in making decisions regarding family planning.

--Back to Top--

Eligibility

INCLUSION / EXCLUSION CRITERIA:

Persons of any age, gender and ethnicity are eligible to enroll as patients, family member enrollees, and control volunteers.

--Back to Top--

Citations:

Molecular and genetic basis of X-linked immunodeficiency disorders

Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome

Two CpG mutational hot spots in the interleukin-2 receptor g chain gene causing human X-linked severe combined immunodeficiency

--Back to Top--

Contacts:

Principal Investigator	Referral Contact	For more information:
Gulbu Uzel, M.D. National Institute of Allergy and Infectious Diseases (NIAID) National Institutes of Health BG 10 RM 12C103 MSC 1899 10 CENTER DR BETHESDA MD 20892-1899 (301) 451-9035 gu4o@nih.gov	Lisa A. Barnhart, R.N. National Institute of Allergy and Infectious Diseases (NIAID) National Institutes of Health Building 10 Room 11N234 10 Center Drive Bethesda, Maryland 20892 (301) 496-5270 lbarnhart@niaid.nih.gov	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 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00001467

--Back to Top--

QUESTIONS?

Contact the Patient Recruitment and Public Liaison Office for:

• Details on how to participate in a study
• Details on how to refer a patient to a study

NIH Clinical Studies Information Request

---

Contact the Office of Communications for:

• General information about the NIH Clinical Center

www.cc.nih.gov/contact.shtml

---

Contact the Department Clinical Research Informatics, (DCRI) for:

• Technical questions about Adobe Acrobat and the PDF format
• Technical questions about this web server

webmaster@cc.nih.gov