Genetic Basis of Primary Immunodeficiencies
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ClinicalTrials.gov Identifier: NCT00001788 |
Recruitment Status :
Terminated
(Investigator left NIH)
First Posted : November 4, 1999
Last Update Posted : May 27, 2021
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The purpose of this study is to evaluate patients with primary immunodeficiency disorders to identify patients with mutations of the genes for the following proteins: Jak3, STAT1, STAT4, interleukin-7, interleukin-7 receptor, interleukin-12 receptor subunits, and others.
Patients will undergo screening history, physical examination, and clinical laboratory evaluation at referring institutions and tissue samples, or cell lines will be sent to the NIH. We will establish cell lines if necessary, prepare DNA and RNA for molecular genetic analysis and study cytokine signal transduction in patient cell lines.
Condition or disease |
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Immunologic Deficiency Syndrome |
Study Type : | Observational |
Actual Enrollment : | 119 participants |
Observational Model: | Cohort |
Time Perspective: | Retrospective |
Official Title: | Molecular Basis of Primary Immunodeficiencies |
Actual Study Start Date : | August 21, 2011 |
Actual Primary Completion Date : | July 2, 2019 |
Actual Study Completion Date : | July 16, 2020 |
Group/Cohort |
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1
patients with primary immunodeficiency disorders
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- Natural History of Immunologic Deficiency Syndrome [ Time Frame: Enrollment with follow-up ]The objectives of the study are: (1) To identify new patients with Jak3 deficiency to determine the range of mutations that occur, to study these mutations in in vitro assays and to relate these findings to the clinical presentation. We will also try to develop improved assays for the diagnosis of Jak3 deficiency. (2) To analyze the function of lymphoid and myeloid cells from patients who have undergone stem cell transplants for Jak3- and XSCID (3) To analyze patients with TB+SCID without mutations of Jak3 and c for mutations in IL- 7, IL-7 receptor genes. (4) To analyze patients with defects in cell-mediated immunity to try to identify patients with mutations of the genes encoding IL-12 subunits, IL-12 receptor subunits and the transcription factors Stat1, Stat 4 and IRF.
- Natural History of Immunologic Deficiency Syndrome [ Time Frame: Enrollment with follow-up ]The objectives of the study are: (5) To analyze patients, including their tissues and cells, with defects in innate immunity, adaptive immunity, or both who clinically present with features suggestive of NEMO Syndrome or NEMO-like syndrome to identify individuals with mutations in IKK (NEMO), IB, and other genes that modify the expression and function of NFB family members.
- Natural History of Immunologic Deficiency Syndrome [ Time Frame: Enrollment with follow-up ]The objectives of the study are: (6) To perform whole genome, exome, or chemical analysis of genes in selected patients and family members to discover new primary immunodeficiency related genes. Whole genome, exome, or other gene analysis will be done to determine which particular genetic variations can cause the various primary immunodeficiencies such as JAK3 deficiency or NEMO Syndrome. We also seek to study whether particular variations are associated with more or less severe illness, or with specific types of symptoms, to understand the basic mechanism by which these altered genes cause cells to function differently, and to identify other genes causing SCID or NEMO-like syndrome. In order to do this, we need blood specimens (or cells from inside the cheek) from patients and their families. We will use these samples to identify which, if any, abnormality is present in the patient s genes, and to study the behavior of immune cells in vitro.
Biospecimen Retention: Samples With DNA
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Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
- INCLUSION CRITERIA:
Samples from patients with known or suspected primary immunodeficiencies, including those treated with stem cell transplants or gene correction therapy, and their families will be accepted worldwide primarily from tertiary care centers that treat patients with such immunodeficiencies.
Such patients will have documented evidence of either opportunistic infection, recurrent infection, or unusually severe responses to infectious agents that cause mild illness in unaffected individuals. In selected cases, at the discretion of the investigators, samples for testing will be obtained from consenting adult relatives of affected individuals.
Either patient-derived B cell lines or primary blood samples will be accepted although in some cases buccal swabs will also be accepted.
Blood samples may be obtained from unaffected children.
Additionally; patients with particularly interesting clinical presentations (e.g. adults with possible attenuated immunodeficiency) may be seen for outpatient visits at the NIH Clinical Center for evaluation.
Infants with SCID or other primary immunodeficiency will not be seen; their physicians will care them for and only clinical material will be sent on such patients.
Medically stable patients with mild to moderate immunodeficiency may be seen at the NIH.
We will encourage the participation of women and members of minority groups in this study.
EXCLUSION CRITERIA:
Inability to provide informed consent.
A presence of any medical condition that would, in the opinion of the investigators, confuse the interpretation of the study.
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): NCT00001788
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | |
Bethesda, Maryland, United States, 20892 |
Principal Investigator: | Robert A Colbert, M.D. | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) |
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) |
ClinicalTrials.gov Identifier: | NCT00001788 |
Other Study ID Numbers: |
990004 99-AR-0004 |
First Posted: | November 4, 1999 Key Record Dates |
Last Update Posted: | May 27, 2021 |
Last Verified: | May 2021 |
Cytokine Stat Jak |
IL-12 Mutation Immunodeficiency |
Primary Immunodeficiency Diseases Immunologic Deficiency Syndromes Immune System Diseases Genetic Diseases, Inborn |