Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Recruitment status was: Recruiting
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.
|DiGeorge Syndrome Shprintzen Syndrome Chromosome Abnormalities Abnormalities, Multiple Conotruncal Cardiac Defects|
|Study Design:||Observational Model: Natural History|
|Official Title:||Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome|
|Study Start Date:||January 1995|
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00005102
|United States, Pennsylvania|
|Children's Hospital of Philadelphia||Recruiting|
|Philadelphia, Pennsylvania, United States, 19104|
|Contact: Kathleen E. Sullivan 215-590-1697|
|Study Chair:||Kathleen E. Sullivan||Children's Hospital of Philadelphia|