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Genetic Analysis of Immune Disorders

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ClinicalTrials.gov Identifier: NCT00001467
Recruitment Status : Enrolling by invitation
First Posted : November 4, 1999
Last Update Posted : March 5, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )

Brief Summary:

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 or disease
DOK 8 STAT1 GATA2 Immunodeficiency STAT3

Detailed Description:

This protocol includes studies of genetic defects of the immune system that cause failure of host defenses against infections, immune dysregulation and autoimmune diseases. Numerous rare disorders result from inherited or newly arising mutations in genes involved in the development and function of innate and adaptive immune systems or both. 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 within the same genetic defect. Rare, single gene disorders identify immunologic pathways that might contribute to more common conditions, such as failure to respond to vaccines, 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. Immunologic tests and DNA sequence analysis appropriate to each clinical condition will be performed as needed on affected individuals and at risk family members. Healthy family members may serve as controls. Probands, parents of deceased affected individuals, or entire families, may be referred to the Investigators Initially, clinical and family history as well as laboratory data will be reviewed by the investigators to determine eligibility. Subjects considered appropriate will be invited through their referring physician to participate by signing our consent form and sending appropriate blood, DNA or other samples to our PI. Should a genetic basis for an individual s immune disorder be identified or if clinical eligibility for other protocols is met, they may be invited to visit NIH.


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Study Type : Observational
Actual Enrollment : 3746 participants
Observational Model: Other
Time Perspective: Cross-Sectional
Official Title: Genetic Analysis of Immune Disorders
Actual Study Start Date : October 22, 2007

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Genetic Testing

Group/Cohort
Proband
person initially ill/studied/diagnosed
Blood relatives
blood related family members of proband



Primary Outcome Measures :
  1. genetic testing for known or suspected mutations related toprimary immune deficiencies [ Time Frame: blood draw and testing once or can be repeated ]
    diagnosis of genetic mutations or deficiencies causing rare primary immune diseases under study

  2. To search for modifiers of phenotype in subjects with disorders of the immune system in which penetrance and expressivity are variable. [ Time Frame: blood draw and testing once or can be repeated ]
    Greater understanding of the variable penetrance and expressivity of modifiers of phenotype in subjects with disorders of the immunesystem


Secondary Outcome Measures :
  1. To identify by clinical and laboratory studies, including mutation detection in patients and healthy relatives who may be carriers, subjects who may be eligible for related protocols or who may derive clinical benefit from molecular diagnosis.@@... [ Time Frame: upon known or suspected diagnosis ]
    To follow patients and relatives that are affected or carriers of genetic defects over time and gain of further understanding of the natural history of diseases/conditions of the immune system.caused by genetic mutations /deficiencies

  2. To perform genotype /phenotype analysis in subjects with immune defects of known genetic cause, leading to basic research on interactions between components of receptors in immune system pathways. [ Time Frame: blood draw and testing once or can be repeated ]
    understanding of interactions between components of receptors in immune system pathways in immune defects of know genetic cause

  3. To track the natural history of disease outcome in selecteddisorders. [ Time Frame: over time via history and assignment to other protocols ]
    understanding of natural history of selected disorders



Information from the National Library of Medicine

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, Learn About Clinical Studies.


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Ages Eligible for Study:   up to 99 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Probands and their blood relatives, of any age, gender, and ethnicity, who are affected, or suspected of being affected with genetic conditions and immune dysregulations under study are eligible to enroll as patients or family member enrollees. Fetal samples may be studied in selected cases where benefit, such as expedited postnatal treatment, could be realized.@@@
Criteria
  • INCLUSION / EXCLUSION CRITERIA:

Probands and their blood relatives, of any age, gender, and ethnicity, who are affected, or suspected of being affected with genetic conditions and immune dysregulations under study are eligible to enroll as patients and family member enrollees.


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001467


Locations
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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Allergy and Infectious Diseases (NIAID)
Investigators
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Principal Investigator: Gulbu Uzel, M.D. National Institute of Allergy and Infectious Diseases (NIAID)

Additional Information:
Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: National Institute of Allergy and Infectious Diseases (NIAID)
ClinicalTrials.gov Identifier: NCT00001467     History of Changes
Other Study ID Numbers: 950066
95-I-0066
First Posted: November 4, 1999    Key Record Dates
Last Update Posted: March 5, 2019
Last Verified: February 20, 2019

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) ):
Primary Immunodeficiency Disorders
Mutation
Genetic Analysis
Immunologic Disorders

Additional relevant MeSH terms:
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Immunologic Deficiency Syndromes
Immune System Diseases