Down syndrome associated with severe combined immunodeficiency: a case report.
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.
Yildirim
M S
MS
Department of Medical Genetics, University of Selcuk, Meram Medical Faculty, Konya, Turkey. drmselman@hotmail.com
Artac
H
H
Reisli
I
I
D016516:CD4-CD8 Ratio; D015897:Comorbidity; D003241:Consanguinity; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007111:Immunity, Cellular / Q000235:genetics; D007223:Infant; D018655:Lymphocyte Count; D008297:Male; D010375:Pedigree; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics*; D014421:Turkey