Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
NCT ID: NCT00005102
Last Updated: 2005-06-24
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
11 participants
OBSERVATIONAL
1995-01-31
Brief Summary
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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 Description
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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.
Conditions
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Keywords
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Study Design
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NATURAL_HISTORY
Eligibility Criteria
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Inclusion Criteria
0 Years
ALL
No
Sponsors
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Children's Hospital of Philadelphia
OTHER
National Center for Research Resources (NCRR)
NIH
Principal Investigators
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Kathleen E. Sullivan
Role: STUDY_CHAIR
Children's Hospital of Philadelphia
Locations
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Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
Countries
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Facility Contacts
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Kathleen E. Sullivan
Role: primary
Other Identifiers
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CHP-IRB-95-903
Identifier Type: -
Identifier Source: secondary_id
CHP-GCRC-1571
Identifier Type: -
Identifier Source: secondary_id
NCRR-M01RR00240-1571
Identifier Type: -
Identifier Source: org_study_id