์˜์•ฝํ’ˆ๊ณผ ์งˆ๋ณ‘์ •๋ณด/์งˆ๋ณ‘๏ฝœํฌ๊ท€์งˆํ™˜
[ํฌ๊ท€์งˆํ™˜] ๋น„์ •ํ˜•๋งˆ์ด์ฝ”๋ฐ•ํ…Œ๋ฅจ์ฆ/Atypical mycobacteriosis ์ฆ์ƒ,์ง„๋‹จ,์น˜๋ฃŒ
2019.08.24
ํŠน์ง• ๋…์„ฑ์ด ์•ฝํ•œ ํ•ญ์‚ฐ๊ท ์—์˜ ๊ฐ์—ผ์ด ํŠน์ง•, ํŠนํžˆ ๋‚จ์„ฑ์—์„œ ๋ฐœ์ƒํ•จ. IKBKG ๋Œ์—ฐ๋ณ€์ดํ˜• 6๋ช…์˜ ๋‚จ์„ฑ ํ™˜์ž, CYBB ๋Œ์—ฐ๋ณ€์ดํ˜• 7๋ช…์˜ ๋‚จ์„ฑ ํ™˜์ž๊ฐ€ ๋ณด๊ณ ๋จ. ์˜ํ–ฅ๋ถ€์œ„: ๋Œ€์žฅ, ์†Œ์žฅ, ์‹ ๊ฒฝ, ์‹ ์žฅ, ํ ๊ด€๋ จ์งˆํ™˜๋ช…: X-linked mendelian susceptibility to mycobacterial diseases ์‚ฐ์ •ํŠน๋ก€์ฝ”๋“œ: V900 ์˜๋ฃŒ๋น„์ง€์›: ์ง€์›๋Œ€์ƒ ์ฆ์ƒ IKBKG ๊ฒฐํ•๊ตฐ์—์„œ ํ”ํ•˜๊ฒŒ ๋‚˜ํƒ€๋‚œ ๊ฒƒ์€ ๊ณ„ํ˜•๊ฒฐํ•ต๊ท , ์†Œ๊ฒฐํ•ต๊ท , ๊ฒฐํ•ต๊ท  ๊ฐ์—ผ์ž„. (์ˆœ์„œ๋Œ€๋กœ Mycobacterium avium, Mycobacterium bovis, Mycobacterium tuberculosis) CYBB ๊ฒฐํ•๊ตฐ์—์„œ๋Š” ํŒŒ์ข…์„ฑ ๊ฒฐํ•ต๊ท  ๊ฐ์—ผ (ํ์—์„œ ๋‹ค๋ฅธ ๊ธฐ๊ด€์œผ๋กœ ๋ฒˆ์ง„ ๊ฒฝ์šฐ) ์„ ๋ณด์ž„. ํ•œ ๋ช…์˜ ํ™˜์ž์—์„œ ์‹ฌํ•œ, ๋‹ค์–‘ํ•œ ๊ฐ์—ผ์ฆ(..