Last updated on June 2005

Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome


Brief description of study

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 Study 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.

Clinical Study Identifier: NCT00005102

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Recruitment Status: Open


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