A patient presented with late onset disseminated nontuberculous mycobacterium (NTM) infection due to a novel interleukin-12/interleukin-23 receptor β1 (IL-12/IL-23Rβ1) mutation, r.1561C>G, leading to the amino acid substitution R521G. This is the second patient reported with a partial IL-12/IL-23Rβ1 defect.

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doi.org/10.1016/j.clim.2012.05.007, hdl.handle.net/1765/68756
Clinical Immunology
Department of Internal Medicine

Potjewijd, J., de Paus, R., van Wengen, A., Damoiseaux, J., Verbon, A., & de Vosse, E. van . (2012). Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor β1 deficiency. Clinical Immunology, 144(2), 83–86. doi:10.1016/j.clim.2012.05.007