Güzide AKSU, Neslihan KARACA EDEER, Ezgi ULUSOY, Cengiz ÇAVUŞOĞLU, Necil KÜTÜKÇÜLER

Birincil immün yetersizliklerde, Mycobacterium Bovis ve mikobakterilerin sıklığı

Amaç: Bazı birincil immün yetersizliklerde mikobakteriyel hastalıklara yatkınlık gözlenmektedir. Bu çalışmada birincil immün yetersizliklerde mikobakteriyel enfeksiyonların araştırılması amaçlandı.Gereç ve Yöntemler: Ege Üniversitesi Tıp Fakültesi Çocuk İmmünoloji Bilim Dalı tarafından ağır kombine ve kombine immün yetersizlik, interlökin 12/interferon gamma reseptör bozukluğu, nükleer faktör kappa-beta esansiyel modülatörü bozukluğu ve kronik granülomatöz hastalık nedeniyle izlenen olgular demografik, klinik özellikler ve laboratuvar testlerini içeren olgu rapor formları doldurularak mikobakteriyel enfeksiyonlar sıklığı ve özellikleri açısından geriye dönük olarak değerlendirildi. Bulgular: Ağır kombine immün yetersizlik nedeniyle izlenen 45 hastanın beşinde (%11,3), kronik granülomatöz hastalık olan 21 hastanın 12'sinde (%52,3), interferon gamma reseptör 2 kısmi bozukluğu olan dört hastada (%100), interferon gamma reseptör 1 tam bozukluğu olan bir hastada (%100), interlökin 12 reseptör beta 1 bozukluğu olan iki hastada (%100), nükleer faktör kappa-beta esansiyel modülatörü bozukluğu olan bir hastada (%100) olmak üzere toplam 25 hastada klinik olarak mikobakteriyel enfeksiyon tanısı konuldu. Yirmi beş hastanın 14 tanesinde Mycobacterium bovis, Mycobacterium chelonea, Mycobacterium elephantis, Mycobacterium fortuitum ve Mycobacterium tuberculosis olmak üzere mikobakteri suşu tiplendirilebildi. Bütün hastalara antitüberküloz tedavi verildi. Yirmi beş hastanın dokuzuna kök hücre nakli uygulandı, beş hasta nakil öncesi kaybedilmiş olup, toplam sekiz hasta öldü. Çıkarımlar: Sonuç olarak birincil immün yetersizliklerde özellikle interlökin 12/interferon gamma yolağını etkileyen bozukluklarda başta Mycobacterium bovis olmak üzere non-tüberküloz mikobakteriler Mycobacterium tuberculosis'e göre daha sık gözlenmiştir. Birincil immün yetersizlikler için yenidoğan tarama programı ile hastalığın erken tanısı ve Bacille Calmette-Guerin aşısının bu hastalara uygulanmasının önlenmesi önem taşımaktadır.

Frequency of Mycobacterium bovis and mycobacteria in primary immunodeficiencies

Aim: Susceptibility to mycobacterial diseases is observed in some primary immunodeficiency diseases. In this study, we aimed to evaluate mycobacterial infections in primary immunodeficiency diseases.Material and Methods: Patients under follow-up by Ege University Pediatric Immunology Department for severe combined and combined immunodeficiencies, interleukin 12/ interferon gamma receptor deficiency, nuclear factor kappa-beta essential modulator deficiency and chronic granulomatosis disease were evaluated retrospectively in terms of the frequency and characteristics of mycobacterial infections using a questionnaire form for demographic properties, clinical features and laboratory tests.Results: A diagnosis of mycobacterial infection was made clinically in a total of 25 patients including five (11.3%) of 45 patients who had severe combined immune deficiency, 12 (52.3%) of 21 patients who had chronic granulomatous disease, four patients (100%) who had interferon gamma receptor 2 partical deficiency, two patients (100%) who had interleukin 12 receptor beta 1 deficiency and one patient (100%) who had nuclear factor kapa-beta essential modulator deficiency. Mycobacterium strain could be typed in 14 (33%) of these 25 patients including Mycobacterium bovis, Mycobacterium chelonea, Mycobacterium elephantis, Mycobacterium fortuitum, and Mycobacterium tuberculosis. All patients were treated with anti-tuberculosis therapy. Thirty-six percent of these 25 patients underwent hematopoietic stem cell transplantation. Eight patients (five before, three after transplantation) died.Conclusions: Non-tuberculosis mycobacteria including mainly Mycobacterium bovis were observed with a higher rate compared to Mycobacterium tuberculosis in primary immunodeficiencies, especially in those affecting the interleukin 12/interferon gamma pathway. Early diagnosis of primary immunodeficiencies with neonatal screening program and preventing administration of the Bacille Calmette-Guerin vaccine in these patients is important.

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