Molecular and genetic basis of X-linked immunodeficiency disorders.
J M Puck
https://pubmed.ncbi.nlm.nih.gov/8195317Actively Recruiting
Age: 1Day - 101Years
All Genders
ID00001467
Genetic Analysis of Immune Disorders
Led by National Institute of Allergy and Infectious Diseases (NIAID) · Updated on 2026-06-04
5000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying immune disorders that may have a genetic cause, including immune deficiencies, allergies, and autoimmune diseases like lupus or arthritis. The study aims to identify the genes responsible for these conditions, understand the medical problems they cause, and learn how to predict who might develop these disorders and the risk of passing them to children. The research involves families with known or suspected genetic immune disorders to increase knowledge about the immune system and these conditions. Participants include patients with immune disorders and their family members. They provide blood samples for genetic and white blood cell analysis. Additional samples may be collected through mouth brushing or skin biopsy. Pregnant women might be asked to provide fetal samples. All samples are used for genetic and immune studies related to the family's immune disorder. If a specific genetic variation is identified, results will be shared with the patient's doctor or genetic counselor, with support from NIH researchers. During the study, participants' medical records and family history are reviewed for eligibility. Testing includes immunologic and DNA sequence analysis as needed. Researchers track the natural history of disease and perform genotype/phenotype analysis. Participants may be invited for further visits if a genetic basis is found. The study involves one or more blood draws, which may be repeated, and assessments over time to better understand immune disorders and guide treatment and family planning decisions.
CONDITIONS
Brief Title
Genetic Analysis of Immune Disorders
Who Can Participate
Age: 1Day - 101Years
All Genders
Eligibility Criteria
You may qualify if you...
- Probands and their blood relatives of any age and ethnicity
- Individuals affected or suspected to be affected by genetic immune conditions under study
- Participants willing to provide medical records and family history for review
- Participants able to provide blood or other biological samples for testing
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - Varies depending on testing needs
Participants provide blood or other biological samples for genetic and immunologic testing to identify mutations and immune defects.
1 or more visits depending on testing requirements
Long-term Monitoring
Duration - Ongoing as needed
Participants are observed over time through clinical history and assignment to other protocols to track the natural history of immune disorders.
Follow-up visits as recommended based on clinical findings
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
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Research Team
S
Steven M Holland, M.D.
G
Gulbu Uzel, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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Published Research Related To This Trial
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.
G H Fisher, F J Rosenberg, S E Straus...
https://pubmed.ncbi.nlm.nih.gov/7540117Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.
A E Pepper, R H Buckley, T N Small...
https://pubmed.ncbi.nlm.nih.gov/7668284Clinical and functional spectrum of RAC2-related immunodeficiency.
Ágnes Donkó, Svetlana O Sharapova, Juraj Kabat...
https://pubmed.ncbi.nlm.nih.gov/38194689Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.
Robert R West, Amy P Hsu, Steven M Holland...
https://pubmed.ncbi.nlm.nih.gov/24077845