Examining the genetic factors behind severe combined immunodeficiency

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to investigate the hereditary factors contributing to various forms of severe combined immunodeficiency (SCID). It focuses on the role of specific cytokines and their receptors in immune function. Blood samples will be collected from participants for genetic analysis to better understand the genetic basis of inherited immunodeficiencies. Both patients with immune deficiencies and their relatives will be included in the study.

Why it matters

Who can join: the full rules

* 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

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Warren J Leonard, M.D. — National Heart, Lung, and Blood Institute (NHLBI)
• Study coordinator: Warren J Leonard, M.D.
• Email: wl2w@nih.gov
• Phone: (301) 496-0098

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.