Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

National Center for Research Resources (NCRR)

Status: Unknown

Conditions: DiGeorge Syndrome; Abnormalities, Multiple; Shprintzen Syndrome; Conotruncal Cardiac Defects; Chromosome Abnormalities

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00005102

CHP-GCRC-1571

CHP-IRB-95-903

NCRR-M01RR00240-1571

Details and patient eligibility

About

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.

Full description

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.

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

• Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH