Genetic Basis of Immunodeficiency
Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Feb 19, 2003
Trial Information
Current as of July 24, 2025
Recruiting
Keywords
ClinConnect Summary
This clinical trial is exploring the genetic causes of Severe Combined Immunodeficiency (SCID), a serious condition that affects the immune system, making it difficult for the body to fight infections. The study aims to understand how inherited factors contribute to different forms of SCID. Patients who might qualify for this research include those with low numbers of T cells or natural killer (NK) cells, which are important for immune function, as well as those who have normal cell counts but their immune cells do not work properly. Family members of these patients will also be included in the study.
Participants will be asked to provide blood samples for genetic testing, which will help researchers learn more about SCID. To be eligible, patients must be at least 6 months old and have certain immune system characteristics, while relatives must be at least 18 years old. The study is currently recruiting participants of all ages and genders. It’s important to note that individuals who already have a specific diagnosis or are pregnant will not be included. This research could provide valuable insights into SCID and potentially lead to better treatments in the future.
Gender
ALL
Eligibility criteria
- * 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
About National Heart, Lung, And Blood Institute (Nhlbi)
The National Heart, Lung, and Blood Institute (NHLBI) is a leading component of the National Institutes of Health (NIH), dedicated to advancing research and clinical trials focused on cardiovascular, pulmonary, and hematologic diseases. With a mission to improve public health through innovative research, the NHLBI supports a wide range of studies aimed at understanding, preventing, and treating heart and lung conditions. By collaborating with academic institutions, healthcare providers, and patient communities, the NHLBI strives to translate scientific discoveries into effective clinical practices, ultimately enhancing the quality of life for individuals affected by these critical health issues.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Bethesda, Maryland, United States
Patients applied
Trial Officials
Warren J Leonard, M.D.
Principal Investigator
National Heart, Lung, and Blood Institute (NHLBI)
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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