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TITLE: Evaluation and Management of Deficiency of Adenosine Deaminase 2 An International Consensus Statement
AUTHORS: Lee, Pui Y.; Davidson, Brad A.; Abraham, Roshini S.; Alter, Blanche; Arostegui, Juan I.; Bell, Katherine; Belot, Alexandre; Bergerson, Jenna R. E.; Bernard, Timothy J.; Brogan, Paul A.; Berkun, Yackov; Deuitch, Natalie T.; Dimitrova, Dimana; Georgin Lavialle, Sophie A.; Gattorno, Marco; Grimbacher, Bodo; Hashem, Hasan; Hershfield, Michael S.; Ichord, Rebecca N.; Izawa, Kazushi; Kanakry, Jennifer A.; Khubchandani, Raju P.; Klouwer, Femke C. C.; Luton, Evan A.; Man, Ada W.; Meyts, Isabelle; Van Montfrans, Joris M.; Ozen, Seza; Saarela, Janna; Santo, Gustavo C.; Sharma, Aman; Soldatos, Ariane; Sparks, Rachel; Torgerson, Troy R.; Uriarte, Ignacio Leandro; Youngstein, Taryn A. B.; Zhou, Qing; Aksentijevich, Ivona; Kastner, Daniel L.; Chambers, Eugene P.; Ombrello, Amanda K.; ...More
PUBLISHED: 2023, SOURCE: JAMA NETWORK OPEN, VOLUME: 6, ISSUE: 5

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TITLE: Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome Full Text
AUTHORS: Reula, Alfonso Jose Tapiz i; Cochino, Alexis Virgil; Martins, Andreia L.; Angosto Bazarra, Diego; de Landazuri, Inaki Ortiz; Mensa Vilaro, Anna; Cabral, Marta; Baroja Mazo, Alberto; Banos, Maria C.; Lobato Salinas, Zulema; Fabregat, Virginia; Plaza, Susana; Yague, Jordi; Casals, Ferran; Oliva, Baldomero; Figueiredo, Antonio E.; Pelegrin, Pablo; Arostegui, Juan I.;
PUBLISHED: 2022, SOURCE: JOURNAL OF CLINICAL IMMUNOLOGY

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TITLE: Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype Full Text
AUTHORS: Joana A Santos; Juan I Arostegui; Maria J Brito; Conceicao Neves; Marta P Conde;
PUBLISHED: 2014, SOURCE: GENE, VOLUME: 542, ISSUE: 2

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