Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study

Purpose DiGeorge syndrome has substantial heterogeneity with variable immune deficiency and dysregulation. Implicated immunopathology includes reduced thymic output and increased peripheral homeostatic proliferation with Th2 skewing and expansion of self-reactive cells. We hypothesized that T cell l...

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Veröffentlicht in:	Journal of clinical immunology 2021, Vol.41 (1), p.29-37
Hauptverfasser:	Deshpande, Deepti R., Demirdag, Yesim Y., Marsh, Rebecca A., Sullivan, Kathleen E., Orange, Jordan S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age Asthma Asthma - complications Asthma - immunology Autoimmunity Biomarkers Biomedical and Life Sciences Biomedicine CD19 antigen CD3 antigen Cell proliferation Child Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 22 Comorbidity DiGeorge Syndrome - complications DiGeorge Syndrome - diagnosis DiGeorge Syndrome - genetics Disease Susceptibility - immunology Female Humans Immunodeficiency Immunoglobulin G Immunology Infant Infant, Newborn Infectious Diseases Internal Medicine Lymphocyte Count Lymphocytes Lymphocytes B Lymphocytes T Lymphopenia Lymphopenia - diagnosis Lymphopenia - etiology Male Medical Microbiology Middle Aged Mutation Original Article Registries Severity of Illness Index Statistical analysis T-Box Domain Proteins - genetics T-Lymphocyte Subsets - immunology T-Lymphocyte Subsets - metabolism T-Lymphocytes - immunology T-Lymphocytes - metabolism T-Lymphocytes - pathology Tbx1 protein Thymic hypoplasia Thymus United States - epidemiology Young Adult
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