title: Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
abstract: 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.affiliation: The Division of Pulmonary, Allergy and Critical Care, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA.
authors.forename: R
authors.initials: R
authors.lastname: Zemble
authors.forename: E
authors.initials: E
authors.lastname: Luning Prak
authors.forename: K
authors.initials: K
authors.lastname: McDonald
authors.forename: D
authors.initials: D
authors.lastname: McDonald-McGinn
authors.forename: E
authors.initials: E
authors.lastname: Zackai
authors.forename: K
authors.initials: K
authors.lastname: Sullivan
mesh_terms: D000367:Age Factors; D001327:Autoimmune Diseases / Q000209:etiology / Q000276:immunology; D016175:B-Lymphocyte Subsets / Q000276:immunology; D016022:Case-Control Studies; D049109:Cell Proliferation; D002675:Child, Preschool; D016207:Cytokines / Q000096:biosynthesis; D004062:DiGeorge Syndrome / Q000150:complications / Q000276:immunology* / Q000473:pathology; D006706:Homeostasis; D006801:Humans; D006969:Hypersensitivity, Immediate / Q000209:etiology / Q000276:immunology; D007156:Immunologic Memory; D016130:Immunophenotyping; D018417:Th1 Cells / Q000276:immunology / Q000473:pathology; D018418:Th2 Cells / Q000276:immunology / Q000473:pathology; D055815:Young Adult
chemical_list: D016207:Cytokines
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