Zoekresultaten - Maria Chitty-Lopez

The burden of severe leukocyte adhesion deficiency, type I (LAD-I): A multiple-case study from the caregiver’s perspectiveMultiple-case study: Burden of caregiving in severe LAD-I door Meaghan O’Connor, Clarissa Simas, Michael Keith, Miranda Bailey, Kristi Jackson, Leslie Blake, Maria Chitty Lopez

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Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations door Melis Yilmaz, Katarina Zmajkovicova, Rahim Z. Miller, Rahim Z. Miller, Grace Blair, Maryssa Ellison, Boglarka Ujhazi, Maria Chitty Lopez, Maria Chitty Lopez, Joseph F. Dasso, Jacob R. Bledsoe, Krisztian Csomos, Barbara Maierhofer, Adriana Badarau, Joao P. Pereira, Henry Kanarek, Christoph B. Geier, Christoph B. Geier, Jolan E. Walter, Jolan E. Walter

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Case Report: Unmanipulated Matched Sibling Donor Hematopoietic Cell Transplantation In TBX1 Congenital Athymia: A Lifesaving Therapeutic Approach When Facing a Systemic Viral Infec... door Maria Chitty-Lopez, Carla Duff, Gretchen Vaughn, Jessica Trotter, Hector Monforte, Hector Monforte, David Lindsay, David Lindsay, Elie Haddad, Elie Haddad, Michael D. Keller, Benjamin R. Oshrine, Jennifer W. Leiding, Jennifer W. Leiding

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

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Autologous Ex Vivo Lentiviral Gene Therapy for Pediatric Patients with Severe Leukocyte Adhesion Deficiency-I Provides Sustained Efficacy with a Favorable Safety Profile door Claire Booth, Julian Sevilla, Elena Almarza, Caroline Y. Kuo, Josune Zubicaray, Maria Chitty-Lopez, Susan Manganaro, Haojun Ouyang, Bitha Narayanan, Janel Long-Boyle, Augustine Fernandes, Kritika Chetty, Satiro DeOliveira, Crystal Banuelos, Jinhua Xu-Bayford, Phillip John-Neek, Connie Jackson, Theodore B. Moore, Kimberly Gilmour, Axel Schambach, Michael Rothe, Adrian J. Thrasher, Juan A. Bueren, Jonathan D. Schwartz, Donald B. Kohn

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