一名完全缺乏白细胞介素-12受体β1的儿童发生偶然分枝杆菌-龟分枝杆菌复合感染。
Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency.
作者信息
Aksu G, Tirpan C, Cavuşoğlu C, Soydan S, Altare F, Casanova J L, Kutukculer N
机构信息
Department of Pediatrics, The Medical School, Ege University, Izmir, Turkey.
出版信息
Pediatr Infect Dis J. 2001 May;20(5):551-3. doi: 10.1097/00006454-200105000-00021.
A 10-year-old boy had chronic diarrhea, abdominal pain, severe weight loss and hepatomegaly; multiple enlarged para-aortic and mesenteric lymph nodes. Mycobacterium fortuitum-chelonae complex was identified in the culture of the lymph nodes. Interleukin-12 receptor beta 1 expression could not be observed in phytohemagglutinin-driven T cell blasts. A homozygous missense interleukin-12 receptor beta 1 mutation was found (R173P).
一名10岁男孩患有慢性腹泻、腹痛、严重体重减轻和肝肿大；腹主动脉旁和肠系膜多个淋巴结肿大。在淋巴结培养物中鉴定出偶然分枝杆菌-龟分枝杆菌复合群。在植物血凝素驱动的T细胞母细胞中未观察到白细胞介素-12受体β1表达。发现了一个纯合错义白细胞介素-12受体β1突变（R173P）。
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