Document Detail


Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
MedLine Citation:
PMID:  20472505     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Clinical evidence suggests that patients with Chromosome 22q11.2 deletion (Ch22q11.2D) have an increased prevalence of atopic and autoimmune disease and this has been without explanation. We hypothesized that the increase in atopy was due to homeostatic proliferation of T cells leading to a Th2 skew. We performed intracellular cytokine staining to define Th1/Th2 phenotypes in toddlers (early homeostatic proliferation) and adults (post homeostatic proliferation) with this syndrome. To attempt to understand the predisposition to autoimmunity we performed immunophenotyping analyses to define Th17 cells and B cell subsets. Adult Ch22q11.2D patients had a higher percentage of IL-4+CD4+ T cells than controls. Th17 cells were no different in patients and controls. In addition, adult Ch22q11.2D syndrome patients had significantly lower switched memory B cells, suggesting a dysregulated B cell compartment. These studies demonstrate that the decrement in T cell production has secondary consequences in the immune system, which could mold the patients' clinical picture.
Authors:
R Zemble; E Luning Prak; K McDonald; D McDonald-McGinn; E Zackai; K Sullivan
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural     Date:  2010-05-15
Journal Detail:
Title:  Clinical immunology (Orlando, Fla.)     Volume:  136     ISSN:  1521-7035     ISO Abbreviation:  Clin. Immunol.     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-08-06     Completed Date:  2010-08-30     Revised Date:  2011-09-13    
Medline Journal Info:
Nlm Unique ID:  100883537     Medline TA:  Clin Immunol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  409-18     Citation Subset:  IM    
Copyright Information:
Copyright 2010 Elsevier Inc. All rights reserved.
Affiliation:
The Division of Pulmonary, Allergy and Critical Care, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA.
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MeSH Terms
Descriptor/Qualifier:
Age Factors
Autoimmune Diseases / etiology,  immunology
B-Lymphocyte Subsets / immunology
Case-Control Studies
Cell Proliferation
Child, Preschool
Cytokines / biosynthesis
DiGeorge Syndrome / complications,  immunology*,  pathology
Homeostasis
Humans
Hypersensitivity, Immediate / etiology,  immunology
Immunologic Memory
Immunophenotyping
Th1 Cells / immunology,  pathology
Th2 Cells / immunology,  pathology
Young Adult
Grant Support
ID/Acronym/Agency:
N0-AI-500024/AI/NIAID NIH HHS; U54 AI082973-018802/AI/NIAID NIH HHS
Chemical
Reg. No./Substance:
0/Cytokines
Comments/Corrections

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