211 Biallelic null mutations in PPM1D cause a novel combined immunodeficiency with severe neurodevelopmental defects
Ana Esteve Sole,Luis Ignacio González-Granado,Brigette Boast,Julie E. Niemela, Jennifer L. Stoddart, Agustin G. Silva,Leticia Pias,Merce Bolasell,Ana V. Marin,Jose R Regueiro,Laia Alsina, Pierre Martine, Kate Brown, Ettore Apella, Juan Francisco Quesada,Colin L Sweeney,Harry Malech, Cathryn L Haigh, HyeSun Kueh,Sergio Rosenzweig Clinical Immunology（2024）
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Immunodeficiency,Neurodevelopment,Cerebral organoids,iPS cells,Murine model
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