Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications, Cardiology, Women's Studies |
| Therapuetic Areas: | Cardiology / Vascular Diseases, Other, Reproductive |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/2/2016 |
| Start Date: | January 1995 |
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.
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.
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.
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.
- Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by
FISH
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