Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency - PubMed (original) (raw)

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• Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression.
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• Mycobacterium bovis BCG-itis and cervical lymphadenitis due to Salmonella enteritidis in a patient with complete interleukin-12/-23 receptor beta1 deficiency.
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• Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
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• A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
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