Immunodeficiency 38 is an autosomal recessive disorder caused by mutations of the ISG15 gene which is predominantly characterized by a susceptibility to mycobacterial infections.
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Zhang X et al. (2015) Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation. |
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Bogunovic D et al. (2012) Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. |