An observational study in Severe Combined Immunodeficiency, sponsored by National Heart, Lung, and Blood Institute (NHLBI). Recruiting at 1 site in United States. Open to participants aged 6 Months to 99 Years. Per ClinicalTrials.gov, last updated 2026-09-28.
Sponsored by National Heart, Lung, and Blood Institute (NHLBI) · Observational
This study will examine the role of hereditary factors in different forms of severe combined immunodeficiency (SCID).
Patients with immunodeficiencies may be eligible for this study. Candidates include:
Relatives of patients will also be studied.
Participants will have blood samples collected for genetic analysis in studies related to SCID at the National Institutes of Health and other institutions.
The goal of this project is to identify the genetic basis of new forms of inherited immunodeficiency. The particular focus relates to cytokines such as IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21 that share the common cytokine receptor (Gamma) chain, (Gamma c), and to molecules that are important for signaling or gene regulation in response to these cytokines, although other causes of inherited immunodeficiency are also encompassed.
64 studies on the registry are indexed under Severe Combined Immunodeficiency; 15 are open to participants now.
This study's planned enrollment of 100 is above the median of 70 across 21 observational studies indexed under Severe Combined Immunodeficiency.
Browse Severe Combined Immunodeficiency studies →National Heart, Lung, and Blood Institute (NHLBI) is the lead sponsor of 1,117 studies on the registry; 71 are open to participants now.
Of its 57 completed or terminated interventional studies of FDA-regulated products, 49 (86%) have results posted.
Counted across the registry records on this site, refreshed daily.
Primary clinical
Index cases to be included are those with diminished numbers of T cells and/or NK cells and/or B cells or other immune cells or those who have normal numbers of T cell, B cells, NK cells and other immune cells but diminished function of one or more immune cells. Relatives of affected individuals may also be studied
EXCLUSION CRITERIA:
18 years of age or older
Patients (index cases), 6 months of age or older
Siblings, 6 months of age or older
To identify forms of inherited immunodeficiency resulting from mutation of yc dependent cytokines, components of their receptors, or signaling molecules in their pathways
In an effort to determine the cause of the immunodeficiency, we will perform studies that may include but not be limited to evaluating the levels of expression of protein and/or mRNA, obtaining DNA sequence data, performing epigenetic studies, and evaluating biological function using cellular, biochemical, or other molecular studies.
Time frame: ongoing
Plan to share: Undecided
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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Severe Combined Immunodeficiency→
National Heart, Lung, and Blood Institute (NHLBI)