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  1. 1
    Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review

    Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review by Adriel Roa-Bautista, Adriel Roa-Bautista, Mahreen Sohail, Emma Wakeling, Emma Wakeling, Kimberly C. Gilmour, Mark Davis, Anthony Gait, Anthony Gait, Giovanna Lucchini, Giovanna Lucchini, David Cox, Reem Elfeky, Reem Elfeky, Maaike Kusters, Maaike Kusters

    Published 2023-06-01
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  2. 2
    Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition

    Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition by Alice Burleigh, Alice Burleigh, Elena Moraitis, Eman Al Masroori, Eslam Al-Abadi, Ying Hong, Ebun Omoyinmi, Hannah Titheradge, Hannah Titheradge, Karen Stals, Wendy D. Jones, Anthony Gait, Vignesh Jayarajan, Wei-Li Di, Neil Sebire, Lea Solman, Malobi Ogboli, Steven B. Welch, Annapurna Sudarsanam, Ian Wacogne, Fiona Price-Kuehne, Barbara Jensen, Paul A. Brogan, Paul A. Brogan, Despina Eleftheriou, Despina Eleftheriou, Despina Eleftheriou

    Published 2023-12-01
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