Browsing by Author "Meziane, Bouchra"
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Item Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-gamma R2 deficiency(W B Saunders, 2012-12) van Wengen, Annelies; de Paus, Roelof A.; Meziane, Bouchra; van Dissel, Jaap T.; van de Vosse, Esther; Kılıç, Sara Şebnem; Çelebi, Solmaz; Hafızoğlu, Demet; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk İmmünolojisi Bölümü.; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Enfeksiyon Hastalıkları Bölümü.; 0000-0001-8571-2581; AAH-1658-2021; 34975059200; 7006095295; 36711582000Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare syndrome characterized by predisposition to severe, sometimes lethal, disease caused by otherwise poorly virulent mycobacteria. We report here a boy with a recurrent mycobacterial infection from the age of five months. Immunological analyses revealed an inability to respond to IFN-gamma, subsequent genetic analyses revealed a novel homozygous mutation, r.679G > A in the IFNGR2 gene, resulting in a G227R substitution, that caused IFN-gamma R2 deficiency. This is only the 8th mutation in IFN-gamma R2 known so far. The boy eventually died of hepatic coma due to liver failure at the age of five.Item Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-gamma R2 deficiency(Springer/Plenum Publishers, 2012-09) Van de Vosse, Esther; De Paus, Roelof A.; Van Wengen, Annelies; Meziane, Bouchra; Van Dissel, Jaap T.; Kılıç, Sara Şebnem; Çelebi, Solmaz; Hafızoğlu, Demet; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk İmmünolojisi Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Enfeksiyon Hastalıkları Anabilim Dalı.; 0000-0001-8571-2581; AAH-1658-2021