Article
[Analysis of IFN-γR1 (CD119) and IL-12Rβ1 (CD212) Deficiency by Flow Cytometry].
Mikrobiyoloji bulteni - 1 Jan 2023
Gelmez Metin Yusuf, Köksalan Kaya, Çınar Suzan, Hatipoğlu Nevin, Coşkuner Taner, Topkarcı Zeynep, Hançerli Törün Selda, Demirbuğa Asuman, Yücel Esra, Kıykım Ayça, Çokuğraş Haluk Cezmi, Gemici-Karaaslan Hatice Betül, Kendir-Demirkol Yasemin, Deniz Günnur
Abstract excerpt
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare primary immune deficiency (PID). IL-12Rβ1 deficiency is the most frequently observed of more than 16 genetic defects that have been identified for MSMD. Genetic and immunological tests are remarkable in the diagnosis of PID. In this study, it was aimed to determine the expression of IFN-γR1 and IL-12Rβ1 in patients with MSMD, their relatives, and...
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