AmandaKilkerOmbrelloMD

PubMed

• 2 citations
  PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants.
  Kathleen Baysac, Guangping Sun, Hiroto Nakano, Elizabeth G Schmitz, Anthony C Cruz, Charles Fisher, , Emily Mace, Joshua D Milner, Ombrello, A. K., Ombrello, A. K., Bi...> ;The Journal of Allergy and Clinical Immunology. 2024 Jan 1
• Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI.
  Ombrello, A. K., Ombrello, A. K., Giorgia Bucciol, Amanda K Ombrello, Eugene P Chambers, Isabelle Meyts> ;Journal of Clinical Immunology. 2023 Dec 22
• 5 citations
  Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS.
  Ombrello, A. K., Ombrello, A. K., Zhijie Wu, Shouguo Gao, Qingyan Gao, Bhavisha A Patel, Emma M Groarke, Xingmin Feng, Ash Lee Manley, Haoran Li, Daniela Ospina Cardon...> ;Cell Reports. Medicine. 2023 Aug 15
• 20 citations
  Spectrum of clonal hematopoiesis in VEXAS syndrome.
  Ombrello, A. K., Ombrello, A. K., Fernanda Gutierrez-Rodrigues, Yael Kusne, Jenna Fernandez, Terra Lasho, Ruba Shalhoub, Xiaoyang Ma, Hugh Alessi, Christy Finke, Matth...> ;Blood. 2023 Jul 20
• 29 citations
  Immune Effector Cell-Associated Hemophagocytic Lymphohistiocytosis-Like Syndrome.
  Ombrello, A. K., Ombrello, A. K., Melissa R Hines, Tristan E Knight, Kevin O McNerney, Mark B Leick, Tania Jain, Sairah Ahmed, Matthew J Frigault, Joshua A Hill, Micha...> ;Transplantation and Cellular Therapy. 2023 Jul 1
• 7 citations
  Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.
  Ombrello, A. K., Ombrello, A. K., Pui Y Lee, Brad A Davidson, Roshini S Abraham, Blanche Alter, Juan I Arostegui, Katherine Bell, Alexandre Belot, Jenna R E Bergerson,...> ;JAMA Network Open. 2023 May 1
• 1 citations
  TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency: A Case Series.
  Ariane Soldatos, Patrycja Hoffmann, Tina Romeo, Natalie Deuitch, Alessandra Brofferio, Ivona Aksentijevich, Daniel L Kastner, Ombrello, A. K., Ombrello, A. K., Amanda ...> ;Neurology(R) Neuroimmunology & Neuroinflammation. 2023 May 1
• 14 citations
  Gain-of-function mutations incause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH sy...
  Ombrello, A. K., Ombrello, A. K., Christina Torres Kozycki, Shilpa Kodati, Laryssa Huryn, Hongying Wang, Blake M Warner, Priyam Jani, Dima Hammoud, Mones S Abu-Asab, Y...> ;Annals of the Rheumatic Diseases. 2022 Oct 1
• 12 citations
  Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.
  Naoki Watanabe, Shouguo Gao, Zhijie Wu, Sachiko Kajigaya, Carrie Diamond, Lemlem Alemu, Diego Quinones Raffo, Patrycja Hoffmann, Deborah L. Stone, Amanda K. Ombrello, ...> ;Journal of Leukocyte Biology. 2021 Sep 1
• 393 citations
  Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
  David B. Beck, Marcela A. Ferrada, Keith A. Sikora, Amanda K. Ombrello, Jason C. Collins, Wuhong Pei, Nicholas Balanda, Daron L. Ross, Daniela Ospina Cardona, Zhijie W...> ;The New England Journal of Medicine. 2020 Oct 27
• 21 citations
  Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Varia...
  Oskar Schnappauf, Natalia Sampaio Moura, Ivona Aksentijevich, Monique Stoffels, Amanda K. Ombrello, Patrycja Hoffmann, Karyl S. Barron, Elaine F. Remmers, Michael S. H...> ;Arthritis & Rheumatology. 2021 Mar 1
• 28 citations
  Perforin-deficient CAR T cells recapitulate late-onset inflammatory toxicities observed in patients
  Kazusa Ishii, Marie Pouzolles, Christopher D. Chien, Rebecca A. Erwin-Cohen, M. Eric Kohler, Haiying Qin, Haiyan Lei, Skyler Kuhn, Amanda K. Ombrello, Alina Dulau-Flor...> ;The Journal of Clinical Investigation. 2020 Oct 1
• 28 citations
  Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
  Oskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch, Karyl S. Barron, Deborah L. Stone, Patrycja Hoffmann, Michael...> ;Journal of Clinical Immunology. 2020 Jul 8
• 64 citations
  Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis.
  Yong Hwan Park, Elaine F. Remmers, Wonyong Lee, Amanda K. Ombrello, Lawton K. Chung, Zhao Shilei, Deborah L. Stone, Maya I. Ivanov, Nicole A. Loeven, Karyl S. Barron, ...> ;Nature Immunology. 2020 Jun 29
• 43 citations
  Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis
  Kalpana Manthiram, Silvia Preite, Fatma Dedeoglu, Selcan Demir, Seza Ozen, Kathryn M. Edwards, Sivia K. Lapidus, Alexander E. Katz, Henry M. Feder, Maranda Lawton, Gre...> ;Proceedings of the National Academy of Sciences of the United States of America. 2020 Jun 23
• 5 citations
  Deficiency of adenosine deaminase 2: Is it an elephant after all?
  Oskar Schnappauf, Amanda K. Ombrello, Daniel L. Kastner> ;The Journal of Allergy and Clinical Immunology. 2020 Jun 1
• 234 citations
  CD4/CD8 T-Cell Selection Affects Chimeric Antigen Receptor (CAR) T-Cell Potency and Toxicity: Updated Results From a Phase I Anti-CD22 CAR T-Cell Trial
  , , , , , , , , , , , , , , , , , , , , , , , > ;Journal of Clinical Oncology. 2020 Apr 14
• 176 citations
  Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease
  Najoua Lalaoui, Steven E. Boyden, Hirotsugu Oda, Geryl Wood, Deborah L. Stone, Diep Chau, Lin Liu, Monique Stoffels, Tobias Kratina, Kate E. Lawlor, Kristien J. M. Zaa...> ;Nature. 2020 Jan 2
• 22 citations
  Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20
  Daniella M. Schwartz, Sarah A Blackstone, Natalia Sampaio-Moura, Sofia Rosenzweig, Aarohan M Burma, Deborah L. Stone, Patrycja Hoffmann, Anne Jones, Tina Romeo, Karyl ...> ;Annals of the Rheumatic Diseases. 2020 Mar 1
• Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2.
  Carmona-Rivera, C., Khaznadar, S. S., Shwin, K. W., Irizarry-Caro, J. A., O'Neil, L. J., Liu, Y., Jacobson, K. A., Ombrello, A. K., Stone, D. L., Tsai, W. L., Kastner,...> ;Blood. 2019 Apr 25
• 99 citations
  Treatment Strategies for Deficiency of Adenosine Deaminase 2.
  Amanda K. Ombrello, Jing Qin, Patrycja Hoffmann, Parag Kumar, Deborah L. Stone, Anne Jones, Tina Romeo, Beverly K. Barham, Gineth Pinto-Patarroyo, Camilo Toro, Ariane ...> ;The New England Journal of Medicine. 2019 Apr 17
• 20 citations
  Warts and DADA2: a Mere Coincidence?
  Katrijn Arts, Jenna R.E. Bergerson, Amanda K. Ombrello, Morgan Similuk, Andrew J. Oler, Anahita Agharahimi, Emily M. Mace, Michael S. Hershfield, Carine Wouters, Lien ...> ;Journal of Clinical Immunology. 2018 Nov 1
• 62 citations
  Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome.
  Pragnesh Mistry, Carmelo Carmona-Rivera, Amanda K. Ombrello, Patrycja Hoffmann, Nickie L Seto, Anne Jones, Deborah L. Stone, Faiza Naz, Philip M. Carlucci, Stefania De...> ;Annals of the Rheumatic Diseases. 2018 Dec 1
• 17 citations
  In silico validation of the Autoinflammatory Disease Damage Index.
  Nienke M. Ter Haar, Amber Laetitia Justine Van Delft, Kim V. Annink, Henk F. van Stel, Sulaiman M. Al-Mayouf, Gayane Amaryan, Jordi Anton, Karyl S. Barron, Susanne M. ...> ;Annals of the Rheumatic Diseases. 2018 Nov 1
• 39 citations
  Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences.
  Jason M. Springer, Selina Gierer, Hong Jiang, David E. Kleiner, Natalie Deuitch, Amanda K. Ombrello, Peter C. Grayson, Ivona Aksentijevich> ;Frontiers in Immunology. 2018 Jun 14
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Abstracts/Posters

• Analysis of Deficiency of Adenosine Deaminase 2 Pathogenesis Based on Single Cell RNA Sequencing of Monocytes
  Amanda Ombrello, 61st Annual American Society of Hematology Meeting, Orlando, FL, 12/8/2019

Lectures

• Monogenic Autoinflammatory Syndromes 
  American Academy of Dermatology - Annual Meeting 2019 - Washington, D.C. - 3/1/2019