CD19 deficiency: A village screening study
Küçük Resim Yok
Tarih
2009
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
AVES
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Aim: We identified a new CD19 deficient case who was a relative of the first CD19 deficient patient and lived in the same village. These cases suggested that other patients with CD19 deficiency or carriers could be found in this village. The aim of this study was to assess the warning signs of primary immunodeficiency and the CD19 molecule deficiency in this population. Material and Method: The relatives of CD19 deficient patients and controls were examined for the warning signs of primary immunodeficiency using a questionnaire form Blood samples were taken from these subjects CD19 and CD21 expressions (median fluorescent intensity, MFI) were analyzed by flowcytometry in these samples. Results: A total of 208 subjects (59 families, 126 females, 82 males) including 129 children 9.5 +/- 3 7 years and 79 adults (37 13 years) were evaluated. A new case with CD19 deficiency was not detected There was at least one warning sign for immunodeficiency in 67 subjects (57 children and 10 adults) CD19 median expression value was lower than 60 MFI value in 20 subjects, which was known as in the carriers who were detected to have heterozygous mutation Conclusions: Our findings suggested that CD19 median expression might be a diagnostic tool for the subjects who have CD19 heterozygous mutations. Mutation analyses are planned for the confirmation of CD19 heterozygous mutation in these subjects who have low CD19 median expression. (Turk Arch Ped 2009; 44. 127-30)
Açıklama
Anahtar Kelimeler
A village screening, CD19 deficiency, CD19 median expression
Kaynak
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
44
Sayı
4
