Status:

RECRUITING

Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death

Lead Sponsor:

National Institute of Allergy and Infectious Diseases (NIAID)

Conditions:

Primary Immune Deficiency

Eligibility:

All Genders

1-100 years

Brief Summary

This study will determine the biochemical and genetic causes of inherited immune diseases affecting lymphocyte homeostasis. Lymphocytes are a type of white blood cell that fights infections. Normally,...

Detailed Description

This protocol is designed to screen patients with suspected or identified genetic diseases of immune cell homeostasis, reflecting abnormalities in programmed cell death, survival, development, activat...

Eligibility Criteria

Inclusion

  • INCLUSION CRITERIA:
  • Patients known to have or suspected of having an inherited immune cell homeostasis, programmed cell death susceptibility syndrome, lymphocyte developmental block, or defective immune cell effector functions will be eligible for enrollment. We will enroll
  • patients with suspected disease if the investigator agrees that there is a high index of suspicion. Blood relatives of enrolled patients will be eligible for enrollment. There will be no limit as to age, sex, race, or disability.
  • EXCLUSION CRITERIA:
  • Severely debilitated health status or poor venous access may preclude obtaining adequate specimens for analysis. The minimum weight for infants on this protocol is 3 kg because of the limits of maximal acceptable blood draw volumes and minimum requirement for core laboratory tests would exceed the acceptable volume.

Exclusion

    Key Trial Info

    Start Date :

    February 12 2007

    Trial Type :

    OBSERVATIONAL

    Allocation :

    ESTIMATED

    End Date :

    Estimated Enrollment :

    5000 Patients enrolled

    Trial Details

    Trial ID

    NCT00246857

    Start Date

    February 12 2007

    Last Update

    January 8 2026

    Active Locations (7)

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    Page 1 of 2 (7 locations)

    1

    National Institutes of Health Clinical Center

    Bethesda, Maryland, United States, 20892

    2

    University of Michigan

    Ann Arbor, Michigan, United States, 48109-0624

    3

    Ankara Medical University

    Ankara, Turkey (Türkiye)

    4

    Gazi University

    Ankara, Turkey (Türkiye)