一名白细胞介素-12受体β1链存在新突变的患者发生播散性鸟分枝杆菌感染。
Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain.
作者信息
Haerynck Filomeen, Holland Steve M, Rosenzweig Sergio D, Casanova Jean-Laurent, Schelstraete Petra, De Baets Frans
机构信息
Department of Pediatric Pulmonology and Immunology, Ghent University Hospital, Ghent, Belgium.
出版信息
J Pediatr. 2008 Nov;153(5):721-2. doi: 10.1016/j.jpeds.2008.05.050.
A girl with relapsing cervical lymphadenopathy due to Mycobacterium avium subsequently developed abdominal adenopathy and intestinal inflammation. 1 known (c.1623_1624delGCinsTT) and 1 novel mutation (c.65_68delCTGC of exon2) of the Interleukin-12 Receptor-beta1 (IL-12Rbeta1) gene was detected. Unlike reports of a more favorable outcome in these patients, our patient died of severe intestinal involvement.
一名因鸟分枝杆菌导致复发性颈淋巴结病的女孩随后出现腹部淋巴结病和肠道炎症。检测到白细胞介素-12受体β1（IL-12Rβ1）基因的1个已知突变（c.1623_1624delGCinsTT）和1个新突变（外显子2的c.65_68delCTGC）。与这些患者预后较好的报道不同，我们的患者死于严重的肠道受累。
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