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.

Condition
Healthy Immunologic Deficiency Syndrome Job's Syndrome Severe Combined Immunodeficiency

Further Study Details: 

Expected Total Enrollment:  2204

Investigation of the causes of genetic defects of the immune system will be undertaken. These rare disorders result from inherited or newly arising mutations in genes involved in the development and function of leukocytes. As specific disease syndromes are recognized and the responsible genes identified, mutations in individual families can be identified. Correlation of mutation sites with clinical information will help determine how specific gene segments encode important functional protein domains.

Families with immune disorders of known or suspected genetic basis will be enrolled. Genetic linkage studies will include all available family members, while immunologic and gene sequence analysis will be performed on affected individuals. Unaffected family members or unrelated normal individuals will serve as controls. The family members will be identified by the proband or proband's parent when the initial pedigree is taken. Subjects considered by the investigators to be appropriate for linkage studies will be invited to participate by the local genetics provider or by the investigators, who will then connect these members to their own local providers for enrollment. Prenatal samples will be considered for study in families in which a known genetic cause of immunodeficiency has been established and the means to make a diagnosis by linkage analysis or mutation detection are available. Normal individuals will be needed as controls for immunologic assays such as lymphocyte cell surface marker analysis.

Genders Eligible for Study:  Both

Accepts Healthy Volunteers

Criteria

INCLUSION CRITERIA:
Persons of any age, gender and ethnicity are eligible to enroll as patients, family member enrollees, and control volunteers.
Immunologic disorder or disorder of host defenses against infection of known or suspected genetic origin.
Clinical summary and results of immunologic testing are required along with biopsy data, identification of infectious agents, treatment and outcome.
Family members will be considered for certain disorders.
Family pedigree must be provided.

Maryland
      National Human Genome Research Institute (NHGRI), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States; Recruiting

Study ID Numbers:  950066; 95-HG-0066
Record last reviewed:  December 14, 2004
Last Updated:  January 19, 2005
Record first received:  November 3, 1999
ClinicalTrials.gov Identifier:  NCT00001467
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2005-04-08