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Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

2014-08-27 03:58:02 | BioPortfolio

Summary

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.

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.

Study Design

Observational Model: Natural History

Conditions

DiGeorge Syndrome

Location

Children's Hospital of Philadelphia
Philadelphia
Pennsylvania
United States
19104

Status

Recruiting

Source

National Center for Research Resources (NCRR)

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:58:02-0400

Clinical Trials [695 Associated Clinical Trials listed on BioPortfolio]

Thymus Transplantation in DiGeorge Syndrome

The purpose of this study is to determine whether thymus transplantation without immunosuppression is effective in treating typical DiGeorge syndrome.

Thymus Transplantation With Immunosuppression

The purpose of this research is to determine if thymus transplantation with immunosuppression is a safe and effective treatment for complete DiGeorge syndrome. The research will include st...

Thymus Transplantation Dose in DiGeorge

One purpose of this study is to determine whether the amount of thymus tissue transplanted into DiGeorge syndrome infants has any effect on the immune outcome. Another purpose of this stud...

Infection in DiGeorge Following CHD Surgery

We propose a retrospective review of patients with DiGeorge syndrome having undergone cardiac surgery to evaluate the incidence of blood stream and/or surgical site infection. The hypothes...

Phase I Thymus Transplantation With Immunosuppression

The purpose of this study is to determine if thymus transplantation with immunosuppression is a safe and effective treatment for atypical complete DiGeorge syndrome. This study will also e...

PubMed Articles [4750 Associated PubMed Articles listed on BioPortfolio]

Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome.

Treatment of Comorbid Bipolar Disorder Improves Disabilities and Neuropsychological Functioning in DiGeorge Syndrome: A Case Report.

The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias.

The 22q11.2 deletion syndrome (DS) is associated with variable phenotypic expression as findings range from severely affected individuals with the classical triad of DiGeorge and velocardiofacial synd...

Deletion size analysis of 1,680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.

Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge...

Kounys syndrome after rocuronium administration.

Kounis syndrome encompasses concepts including angina and allergic infarction described in relation to exposure to different allergens. The aim of this article is to describe a case of Kounis Syndrome...

Medical and Biotech [MESH] Definitions

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.

A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone.

Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).

An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.

Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.

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