Clinical Trial: Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

Study Status: Completed
Recruit Status: Unknown status
Study Type: Observational

Official Title: Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

Brief Summary:

OBJECTIVES:

I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome.

II. Determine any correlation between immunologic function in these patients and chromosome 22 deletion breakpoints.

III. Determine presence of sustained immunologic compromise in older patients.

Detailed Summary:

PROTOCOL OUTLINE:

Blood samples are collected at diagnosis of chromosome 22q11 deletion and assessed for lymphocyte proliferation in response to mitogens phytohemagglutinin, pokeweed mitogen, and concanavalin A (mitogen stimulation analyses). These analyses are repeated at 4 months along with a quantitative analysis of immunoglobulin.

At 8 months, patients are tested for their lymphocytes' ability to respond to antigens (candida, tetanus, and diphtheria). At 1 year, patients have lymphocyte subset, IgG, IgA, and IgM analyses performed. Quantitative evaluations of antibody titers to diphtheria, tetanus, Haemophilus influenza, and hepatitis B are also performed.

Over 1 year of age, all studies are performed if the patient is seen for a single visit.

Sponsor: National Center for Research Resources (NCRR)

Current Primary Outcome:

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: National Center for Research Resources (NCRR)

Dates:
Date Received: April 6, 2000
Date Started: January 1995
Date Completion:
Last Updated: June 23, 2005
Last Verified: December 2003