Genetic Analysis of Immune Disorders

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2013 by National Institutes of Health Clinical Center (CC)
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: November 3, 1999
Last updated: March 14, 2014
Last verified: August 2013

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.

Immunologic Deficiency Syndrome
Job's Syndrome
Severe Combined Immunodeficiency

Study Type: Observational
Official Title: Genetic Analysis of Immune Disorders

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 3000
Study Start Date: January 1995
Detailed Description:

This protocol includes studies of genetic defects of the immune system that cause failure of host defenses against infections or autoimmune diseases. Numerous rare disorders result from inherited or newly arising mutations in genes involved in the development and function of leukocytes, or white blood cells. As specific disease syndromes are defined and the responsible genes identified, mutations in individual families can be sought. Correlation of mutation sites with clinical information helps to determine how specific gene segments encode important functional domains of the proteins of the immune system. Rare, single gene disorders identify immunologic pathways that might contribute to more common conditions, such as failure to respond to vaccines or susceptibility to allergies or autoimmune diseases like arthritis or lupus.

Members of families with immune disorders that are known or suspected to have a genetic basis may be eligible. Genetic linkage studies will include all available family members, while immunologic tests and DNA sequence analysis appropriate to each clinical condition will be performed as needed on affected individuals. Healthy family members and unrelated volunteers will serve as controls. Probands, parents of deceased affected individuals, or entire families, are referred to the Principal Investigator (PI) by immunologists and geneticists worldwide. The extreme rarity of primary immune disorders makes it impossible to determine in advance which institutions or physicians will encounter these patients. Initially, clinical history, laboratory data and pedigrees are reviewed by the investigators to determine eligibility. Subjects considered appropriate are invited through their local physician to participate; the investigators connect self-referring families to a local provider for medical or genetic counseling and enrollment, consisting of signing our consent form and obtaining appropriate blood or other samples to be mailed to the PI. Only a minority of patients will visit NIH.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

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

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00001467

Contact: Lisa A Barnhart, R.N. (301) 496-5270
Contact: Gulbu Uzel, M.D. (301) 451-9035

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
Principal Investigator: Gulbu Uzel, M.D. National Institute of Allergy and Infectious Diseases (NIAID)
  More Information

Additional Information:
Additional publications automatically indexed to this study by Identifier (NCT Number): Identifier: NCT00001467     History of Changes
Other Study ID Numbers: 950066, 95-I-0066
Study First Received: November 3, 1999
Last Updated: March 14, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Primary Immunodeficiency
Severe Combined Immune Deficiency (SCID)
Hyper-IgE Syndrome (HIES)
Autoimmune Lymphoproliferative Syndrome (ALPS)
Immunologic Disorders

Additional relevant MeSH terms:
Immunologic Deficiency Syndromes
Immune System Diseases
Job's Syndrome
Severe Combined Immunodeficiency
Phagocyte Bactericidal Dysfunction
Leukocyte Disorders
Hematologic Diseases
Infant, Newborn, Diseases
DNA Repair-Deficiency Disorders
Metabolic Diseases processed this record on July 10, 2014