DOWN SYNDROME ASSOCIATED WITH SEVERE COMBINED IMMUNODEFICIENCY: A CASE REPORT
Küçük Resim Yok
Tarih
2009
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
MEDECINE ET HYGIENE
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Down Syndrome, Severe combined immunodeficiency
Kaynak
GENETIC COUNSELING
WoS Q Değeri
Q3
Scopus Q Değeri
N/A
Cilt
20
Sayı
3