Dr Rui Chen Dr Jarmila Spegarova Dr Joe Willet Dr Helen Griffin Dr Akshada Gajbhiye et al. | NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome | 2024 |
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Dr Christopher Duncan Sophie Howarth Dr Rui Chen Dr Benjamin Thompson Dr Jarmila Spegarova et al. | Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic | 2022 |
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Dr Aidan Hanrath Dr Rui Chen Professor Sophie Hambleton Dr Christopher Duncan
| Life-threatening influenza, hemophagocytic lymphohistiocytosis and probable vaccine strain varicella in a novel case of homozygous STAT2 deficiency | 2021 |
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Dr David Swan Dr Karin Engelhardt Dr Rui Chen Dr Rolando Berlinguer Palmini Dr Tarana Singh Dang et al. | An essential role for the Zn2+ transporter ZIP7 in B cell development | 2019 |
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Dr David Swan Professor Chris Lamb Dr Karin Engelhardt Dr Rui Chen Dr Yuchun Ding et al. | Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ | 2019 |
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Dr Christopher Duncan Dr Benjamin Thompson Dr Rui Chen Dr Florian Gothe Victoria Shuttleworth et al. | Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2 | 2019 |
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