DOWN SYNDROME ASSOCIATED WITH SEVERE COMBINED IMMUNODEFICIENCY: A CASE REPORT
dc.contributor.author | Yildirim, M. S. | |
dc.contributor.author | Artac, H. | |
dc.contributor.author | Reisli, I. | |
dc.date.accessioned | 2020-03-26T17:38:17Z | |
dc.date.available | 2020-03-26T17:38:17Z | |
dc.date.issued | 2009 | |
dc.department | Selçuk Üniversitesi | en_US |
dc.description.abstract | 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, lie 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. | en_US |
dc.identifier.endpage | 273 | en_US |
dc.identifier.issn | 1015-8146 | en_US |
dc.identifier.issue | 3 | en_US |
dc.identifier.pmid | 19852434 | en_US |
dc.identifier.scopusquality | N/A | en_US |
dc.identifier.startpage | 269 | en_US |
dc.identifier.uri | https://hdl.handle.net/20.500.12395/23432 | |
dc.identifier.volume | 20 | en_US |
dc.identifier.wos | WOS:000270670900009 | en_US |
dc.identifier.wosquality | Q3 | en_US |
dc.indekslendigikaynak | Web of Science | en_US |
dc.indekslendigikaynak | Scopus | en_US |
dc.indekslendigikaynak | PubMed | en_US |
dc.language.iso | en | en_US |
dc.publisher | MEDECINE ET HYGIENE | en_US |
dc.relation.ispartof | GENETIC COUNSELING | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.selcuk | 20240510_oaig | en_US |
dc.subject | Down Syndrome | en_US |
dc.subject | Severe combined immunodeficiency | en_US |
dc.title | DOWN SYNDROME ASSOCIATED WITH SEVERE COMBINED IMMUNODEFICIENCY: A CASE REPORT | en_US |
dc.type | Article | en_US |