01 April 2005 : Original article
Early development of immunity in diGeorge syndrome
Anna Sedivá, Jiøina Bartůnková, Radana Zachová, Andrea Poloucková, Ondrej Hrusák, Ales Janda, Eduard Kocárek, Drahuse Novotná, Kamila Novotná, Tibor KleinMed Sci Monit 2005; 11(4): CR182-187 :: ID: 15881
Abstract
Background:DiGeorge syndrome is a relatively common congenital disorder with developmental defects, including hypoplasia or pathologic migration of the thymus, associated with deletion of contiguous genes on chromosome 22. We prospectively followed a cohort of children with confirmed 22q11.2 deletion.Material/Methods:One to six repeated examination were performed in 13 boys and 21 girls, age 4 days to 19 years. Due to the proposed role of the thymus in T lymphocyte selection, we studied T lymphocytes and their function, and also the presence of double positive CD4+CD8+ and γ/δ T lymphocytes in peripheral blood.Results:A low number of T lymphocytes was detected in the majority of patients before the age of 2 years. Both spontaneous and PHA-induced proliferation were unexpectedly higher than in normal samples from children
Keywords: DiGeorge Syndrome - immunology, Adolescent, Aging - immunology, Autoantibodies - blood, Child, Child, Preschool, Cohort Studies, DiGeorge Syndrome - immunology, Immunoglobulin A - blood, Immunoglobulin G - blood, Infant, Newborn, Lymphocyte Activation, T-Lymphocytes - immunology
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