Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome

by Claudia L. Gaefke, Jonathan Metts, Donya Imanirad, Daime Nieves, Paola Terranova, Gianluca Dell'Orso, Eleonora Gambineri, Maurizio Miano, Richard F. Lockey, Jolan Eszter Walter, Jolan Eszter Walter, Emma Westermann-Clark, Emma Westermann-Clark
Published 2021-03-01

Primary Immunodeficiency in Children With Autoimmune Cytopenias: Retrospective 154-Patient Cohort

by Emma Westermann-Clark, Emma Westermann-Clark, Cristina Adelia Meehan, Anna K. Meyer, Anna K. Meyer, Joseph F. Dasso, Joseph F. Dasso, Devendra Amre, Maryssa Ellison, Bhumika Patel, Marisol Betensky, Marisol Betensky, Charles Isaac Hauk, Jennifer Mayer, Jonathan Metts, Jennifer W. Leiding, Jennifer W. Leiding, Panida Sriaroon, Panida Sriaroon, Ambuj Kumar, Irmel Ayala, Irmel Ayala, Jolan E. Walter, Jolan E. Walter, Jolan E. Walter
Published 2021-04-01

Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma

by Maria Chitty-Lopez, Emma Westermann-Clark, Irina Dawson, Boglarka Ujhazi, Krisztian Csomos, Kerry Dobbs, Khuong Le, Yasuhiro Yamazaki, Amir A. Sadighi Akha, Deepak Chellapandian, Ben Oshrine, Luigi D. Notarangelo, Gauri Sunkersett, Jennifer W. Leiding, Jolan E. Walter, Jolan E. Walter
Published 2020-09-01