Genetic Basis of Immunodeficiency

Description

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. ...

Conditions

Severe Combined Immunodeficiency

Study Overview

Study Details

Study overview

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. ...

The Determination of Genetic Basis Of Immunodeficiency

Genetic Basis of Immunodeficiency

Condition
Severe Combined Immunodeficiency
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * 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
  • * 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

Ages Eligible for Study

6 Months to 99 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

National Heart, Lung, and Blood Institute (NHLBI),

Warren J Leonard, M.D., PRINCIPAL_INVESTIGATOR, National Heart, Lung, and Blood Institute (NHLBI)

Study Record Dates

N/A