Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

The recruitment status of this study is unknown because the information has not been verified recently.
Verified December 2003 by National Center for Research Resources (NCRR).
Recruitment status was  Recruiting
Children's Hospital of Philadelphia
Information provided by:
National Center for Research Resources (NCRR) Identifier:
First received: April 6, 2000
Last updated: June 23, 2005
Last verified: December 2003


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 Type: Observational
Study Design: Observational Model: Natural History
Official Title: Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

Resource links provided by NLM:

Further study details as provided by National Center for Research Resources (NCRR):

Estimated Enrollment: 11
Study Start Date: January 1995
Detailed Description:


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.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
  • Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH
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Please refer to this study by its identifier: NCT00005102

United States, Pennsylvania
Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Kathleen E. Sullivan    215-590-1697      
Sponsors and Collaborators
National Center for Research Resources (NCRR)
Children's Hospital of Philadelphia
Study Chair: Kathleen E. Sullivan Children's Hospital of Philadelphia
  More Information Identifier: NCT00005102     History of Changes
Other Study ID Numbers: NCRR-M01RR00240-1571  CHP-IRB-95-903  CHP-GCRC-1571 
Study First Received: April 6, 2000
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by National Center for Research Resources (NCRR):
DiGeorge syndrome
Shprintzen syndrome
cardiovascular and respiratory diseases
conotruncal cardiac defects
genetic diseases and dysmorphic syndromes
rare disease

Additional relevant MeSH terms:
Craniofacial Abnormalities
Abnormalities, Multiple
Chromosome Aberrations
Chromosome Disorders
Congenital Abnormalities
DiGeorge Syndrome
Heart Defects, Congenital
22q11 Deletion Syndrome
Cardiovascular Abnormalities
Cardiovascular Diseases
Endocrine System Diseases
Genetic Diseases, Inborn
Heart Diseases
Lymphatic Abnormalities
Lymphatic Diseases
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Parathyroid Diseases
Pathologic Processes processed this record on May 26, 2016