Article
A novel mutation of the IL12RB1 gene in a child with nocardiosis, recurrent salmonellosis and neurofibromatosis type I: first case report from Thailand.
Asian Pacific journal of allergy and immunology - 1 Jan 2000
Luangwedchakarn Voravich, Jirapongsaranuruk Orathai, NiemeLa Julie E, Thepthai Charin, Chokephaibulkit Kulkanya, Sukpanichnant Sanya, Pacharn Punchama, Visitsunthorn Nualanong, Vichyanond Pakit, Piboonpocanun Surapon, Fleisher Thomas A
Abstract excerpt
Genetic defects of interleukin (IL)-12/23-and interferon (IFN)-gamma-mediated immunity can cause increased susceptibility to intracellular microbes. Among these defects, a mutation of the gene encoding the IL-12 receptor beta1 (IL-12Rbeta1) is the most common worldwide. A 12-year old Thai boy with pre-existing neurofibromatosis type 1 (NF1) was evaluated for primary immunodeficiency after a history of tuberculous...
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