DOWN SYNDROME ASSOCIATED WITH SEVERE COMBINED IMMUNODEFICIENCY: A CASE REPORT

Küçük Resim Yok

Tarih

2009

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

Künye