Down syndrome associated with severe combined immunodeficiency: a case report
Yildirim, M.S.; Artac, H.; Reisli, I.
Genetic Counseling 20(3): 269-273
2009
ISSN/ISBN: 1015-8146 PMID: 19852434 Document Number: 633695
An 8-month-old boy was admitted to the hospital because of recurrent bronchopneumonia and gastrointestinal tract infections. On physical examination, he had hypotonia, mental retardation, microcephaly with flat facies, low nasal bridge, small nose, small ears. Laboratory evaluation revealed Down syndrome, lymphopenia, hypogammaglobulinemia, reduced proportions of the peripheral blood lymphocytes with an inverted CD4/CD8 ratio and markedly reduced mitogen response of the lymphocytes. We report here unique case of Down syndrome associated with severe combined immunodeficiency.