Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency
Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency
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DOI：
10.1097/00006454-200105000-00021
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发表时间：
2001-05-01
影响因子：
3.6
通讯作者：
Kutukculer, N
中科院分区：
文献类型：
--
作者：
Aksu, G;Tirpan, C;Kutukculer, N
一名10岁男孩有慢性腹泻、腹痛、严重体重减轻和肝肿大；多个腹主动脉旁和肠系膜淋巴结肿大。在淋巴结培养中发现偶发分支杆菌-龟分支杆菌复合体。在植物血凝素诱导的T细胞母细胞中未见IL-12受体β1的表达。发现白介素12受体β1基因突变(R173P)。
A 10-year-old boy had chronic diarrhea, abdominal pain, severe weight loss and hepatomegaly; multiple enlarged pare-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).