Truncating Mutations in SAMD9L Cause an Early-Onset Immune-Dysregulatory Syndrome of Neutrophilic Panniculitis, Interstitial Lung Disease and Cytopenias Adriana Almeida de Jesus , Bernadette Marrero , Gina A. Montealegre Sanchez , Jon Sandy Burnham , Alice Chan , Yuriy Stepanovskiy , Angela Rosen-Wolff , Christian Hedrich , MinAe Lee-Kirsch , Joseph A. Duncan , Jin Yao Mo , Liliana Bezrodnik , Gisela Seminario , Maria Soledad Caldirola , Eric Allenspach , Troy R. Torgerson , Laura Finn , Rachel VanTries , Yan Huang , Stephen R. Brooks , Zuoming Deng , Raphaela Goldbach-Mansky JOURNAL OF CLINICAL IMMUNOLOGY（2018）
关键词
neutrophilic panniculitis, samd9l cause, interstitial lung disease, early-onset, immune-dysregulatory
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