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Published on: May 13, 2015
Early development of immunity in diGeorge syndrome
Anna Sedivá1, Jiøina Bartůnková, Radana Zachová
1Institute of Immunology, Motol University Hospital, Prague, Czech Republic. anna.sediva@lfmotol.cuni.cz
Insights
Children with 22q11.2 deletion syndrome, a form of diGeorge syndrome, show delayed immune system development. However, T cell function and numbers gradually normalize, with no severe immunodeficiency observed in this prospective study.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- DiGeorge syndrome, a common congenital disorder, involves 22q11.2 deletion impacting thymus development.
- This study focuses on children with confirmed 22q11.2 deletion.
Purpose of the Study:
- To prospectively evaluate T lymphocyte development and function in children with 22q11.2 deletion syndrome.
- To assess the clinical implications of impaired thymus function on immune competence.
Main Methods:
- Longitudinal follow-up of 34 children (13 boys, 21 girls) aged 4 days to 19 years.
- Analysis of T lymphocyte counts, CD4+CD8+ double positive T cells, and gamma/delta T cells in peripheral blood.
- Assessment of T cell proliferation in response to phytohemagglutinin (PHA).
Main Results:
- Most patients under 2 years had low T lymphocyte counts, but unexpectedly higher proliferation.
- T cell numbers and function normalized in most patients after age 2.
- No severe immunodeficiency or autoimmunity observed, except for recurrent respiratory infections.
Conclusions:
- Partial diGeorge syndrome is characterized by delayed but gradual immune function development.
- Impaired thymus support in 22q11.2 deletion syndrome leads to transient immune perturbations.
- Early immune monitoring is crucial for managing potential complications.
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.
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