Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans.
M Noguchi, H Yi, H M Rosenblatt...
https://pubmed.ncbi.nlm.nih.gov/8462096Actively Recruiting
Age: 6Months - 99Years
All Genders
ID00055172
The Determination of Genetic Basis of Immunodeficiency Study of Inherited Causes in Severe Combined Immunodeficiency
Led by National Heart, Lung, and Blood Institute (NHLBI) · Updated on 2026-05-07
100
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers aim to discover the genetic causes of inherited immunodeficiencies, particularly focusing on severe combined immunodeficiency (SCID). The study investigates mutations affecting cytokines like IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21 that share a common receptor chain, as well as molecules involved in their signaling pathways. The goal is to better understand new forms of inherited immunodeficiency by studying affected patients and their relatives. Participants include patients with reduced numbers or impaired function of immune cells such as T cells, B cells, or natural killer (NK) cells, along with their biological relatives. Blood samples will be collected from participants for genetic analysis to identify mutations linked to these immunodeficiencies. The study includes both index cases and relatives, with age criteria differing for siblings and other family members. Throughout the study, participants will provide blood samples for ongoing genetic testing related to SCID. Researchers will monitor and analyze these samples to identify inherited mutations in immune system components. The study involves participants aged from 6 months to older adults, with relatives also being included. The main outcome is to identify genetic mutations causing inherited immunodeficiencies, improving understanding of these conditions.
CONDITIONS
Official Title
Genetic Basis of Immunodeficiency
Who Can Participate
Age: 6Months - 99Years
All Genders
Eligibility Criteria
You may qualify if you...
- Patients with diminished numbers or function of T cells, B cells, natural killer cells, or other immune cells
- Patients with normal immune cell numbers but reduced function in one or more immune cells
- Relatives of affected individuals may also participate
- Patients (index cases) aged 6 months and older
- Siblings aged 6 months and older
- Non-sibling relatives (biological parent, aunt, uncle, grandparent) aged 18 years or older
You will not qualify if you...
- Patients with a known diagnosis
- Patients with an immunological phenotype not relevant to this study
- Pregnancy or lactation
- Adults with current decisional impairment
AI-Screening
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1
2
3
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
W
Warren J Leonard, 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
3
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Published Research Related To This Trial
Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.
S M Russell, N Tayebi, H Nakajima...
https://pubmed.ncbi.nlm.nih.gov/7481768Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.
A Puel, S F Ziegler, R H Buckley...
https://pubmed.ncbi.nlm.nih.gov/9843216