Genetic Basis of Immunodeficiency

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:

* Patients with diminished numbers of T cells or NK cells or both, or * Patients with normal T cell and NK cell numbers but diminished T cell, B cell, or NK cell function.

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.

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Key information

Conditions

Severe Combined Immunodeficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities DNA Repair-Deficiency Disorders Genetic Diseases, Inborn Immune System Diseases Immunologic Deficiency Syndromes Infant, Newborn, Diseases Metabolic Diseases Nutritional and Metabolic Diseases Primary Immunodeficiency Diseases

Age range

6 month–99 year

Sex eligibility

All sexes

Study type

Observational

Primary location

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location status: Recruiting

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

INCLUSION CRITERIA:

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

Patients (index cases): 6 months of age and older
Siblings: 6 months of age and older
Non-sibling relatives (biological parent, aunt, uncle or grandparent): 18 years or older

Exclusion criteria

Patients with a known diagnosis
Patients with a particular immunological phenotype that is not of interest to the research conducted under this study.
Pregnancy or lactation
Adults with current decisional impairment

Treatment and study plan

Primary outcomes

To identify forms of inherited immunodeficiency resulting from mutation of yc dependent cytokines, components of their receptors, or signaling molecules in their pathways

Time frame: ongoing

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.

Interested in participating?

Recruiting

Interested in participating?

Request Info

Sponsors and collaborators

Lead sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Nih

Registry information

Official study title

The Determination of Genetic Basis Of Immunodeficiency

Important dates

Study start: 2004
First posted: Feb 20, 2003
Registry last updated: Sep 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting