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 gamma/delta 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 <2 years old. Both T cell numbers and function normalized thereafter in the majority of patients. Double positive T cells were detected in one boy, together with transient positivity of antinuclear antibodies. Gamma/delta T cells were greater than 5% in 21% of the children. In our 5-year prospective study we have not yet observed serious clinical signs of immunodeficiency or autoimmunity in these patients, except for repeated respiratory infections. CONCLUSIONS: All patients classified as partial diGeorge syndrome presented with delayed but gradual development of immune function against a background of impaired support by the thymus.
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 gamma/delta 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 <2 years old. Both T cell numbers and function normalized thereafter in the majority of patients. Double positive T cells were detected in one boy, together with transient positivity of antinuclear antibodies. Gamma/delta T cells were greater than 5% in 21% of the children. In our 5-year prospective study we have not yet observed serious clinical signs of immunodeficiency or autoimmunity in these patients, except for repeated respiratory infections. CONCLUSIONS: All patients classified as partial diGeorge syndrome presented with delayed but gradual development of immune function against a background of impaired support by the thymus.
Authors: P Eberle; C Berger; S Junge; S Dougoud; E Valsangiacomo Büchel; M Riegel; A Schinzel; R Seger; T Güngör Journal: Clin Exp Immunol Date: 2008-11-24 Impact factor: 4.330
Authors: Eva Froňková; Adam Klocperk; Michael Svatoň; Michaela Nováková; Michaela Kotrová; Jana Kayserová; Tomáš Kalina; Petra Keslová; Felix Votava; Hana Vinohradská; Tomáš Freiberger; Ester Mejstříková; Jan Trka; Anna Sedivá Journal: PLoS One Date: 2014-12-08 Impact factor: 3.240