Turk J Immunol. 2013; 1(1): 22-31 | DOI: 10.5606/tji.2013.180

Chronic Granulomatous Disease

Serkan Filiz¹, Dilara Fatma Kocacýk Uygun¹, Olcay Yeðin¹
Akdeniz Üniversitesi Týp Fakültesi, Çocuk Ýmmünoloji, Alerji Bilim Dalý, Antalya, Türkiye

Chronic granulomatous disease (CGD) is a genetically heterogeneous primary immunodeficiency which is characterized by recurrent and life-threatening infections resulting from defects in phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system and granuloma formation due to increased inflammatory response. Chronic granulamatous disease is caused by mutations in any of the four structural genes of the NADPH oxidase (gp91phox, p22phox, p47phox, and p67phox). Most cases (65%) involve mutations in gp91phox a nd a re i nherited i n a n X -linked r ecessive m anner. T he remainder are autosomal recessive. Although CGD can be diagnosed at any age from early childhood to adulthood, the majority of the cases are diagnosed as toddlers or young children below five years old due to recurrent infections or granuloma formation. The frequent sites of infection are lung, skin, lymph nodes, and liver. The diagnosis is based on medical history, clinical signs and the neutrophil function test results indicating the absence of respiratory burst and is confirmed by genotyping. Currently, the main treatment modalities are antibiotic and antifungal prophylaxis, interferon-gamma prophylaxis, management of acute infections and inflammatory complications, hemopoietic stem cell transplantation and gene therapy. In this review, the pathogenesis, clinical manifestations, diagnosis and treatment of CGD were discussed.

Keywords: Chronic granulamatous disease; immunodeficiency; phagocytic disorder.

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Kronik Granülomatöz Hastalýk

Serkan Filiz¹, Dilara Fatma Kocacýk Uygun¹, Olcay Yeðin¹
Akdeniz Üniversitesi Týp Fakültesi, Çocuk Ýmmünoloji, Alerji Bilim Dalý, Antalya, Türkiye

Ailesel Akdeniz ateþi (AAA, MIM249100), “sistemik otoenflamatuvar hastalýklar” adýyla terimleþen bir grup hastalýk prototipi olup, yüksek antikor oraný veya antijene özgü T hücreleri olmadan belirgin düzeyde tetiklenmemiþ enflamasyon epizotlarýyla karakterizedir. Hastalýk, tipik olarak Akdeniz toplumlarý arasýnda yaygýndýr ve genetik taný raporlarý ile dünya çapýnda yayýlmaktadýr. Bu yazýda, periyodik ateþ yakýnmasýyla kliniðimize baþvuran ve AAA tanýsý konulan 44 yaþýnda bir kadýn hasta sunuldu. Hastanýn genetik tanýsý için AAA strip analiz ve DNA sekanslama analiz yöntemi kullanýldý. Akdeniz ateþi geninin DNA sekanslama analizinde, AAA mutasyon veri tabanýnda ikinci anlamsýz FMF mutasyonu olarak anlamsýz bir p.Y471X mutasyonu tespit edildi. Bu, AAA’lý ata toplumlarda genetik analizin öneminin altýný çizdi. Doðru klinik ve moleküler taný, AAA’lý hastalarýn takip ve tedavisinde esastýr. Geniþ ölçekli nükleotid varyasyon taramasý, yeni varyasyonlarýn gözden kaçmasýný önleyebilir.

Anahtar Kelimeler: Kronik granülamatöz hastalýk; immün yetmezlik; fagositer bozukluk

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