Casey Allison Rimland

Multicenter international cohort study of haploinsufficiency of A20 reveals novel genetic architecture and phenotypic evolution

Tingyan He, Jun Wang, Manuel Carpio Tumba, Shihao Wang et autres

cn, us, tw, es, pe, de, nz, hk (code pays fourni par la source)

Clinically validated assay for rapid determination of type I and type II interferon activity in systemic inflammatory diseases

Michael T. Lam, Amrita Basu, Kailey E. Brodeur, Courtney E LeSon et autres

us, jp, cn (code pays fourni par la source)

Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolution

Tingyan He, Jun Wang, Manuel Carpio Tumba, Shihao Wang et autres

ABSTRACT Background Haploinsufficiency of A20 (HA20) is an immune dysregulation disorder caused by loss-of-function TNFAIP3 mutations. This international multicenter study aimed to delineate its clinical spectrum, genetic basis, and natural history. Methods A cross-sectional, retrospective analysis was conducted in HA20 patients with …

us, cn, tw, es, pe, de, nz, hk (code pays fourni par la source)

Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants

Yue Jian, Courtney E LeSon, Casey Allison Rimland, Kailey E. Brodeur et autres

OBJECTIVE: Deficiency of adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disease manifested as polyarteritis nodosa, stroke, and bone marrow failure. Leveraging an international cohort of 200 DADA2 cases, we aimed to characterize the diagnostic utility of a plasma ADA2 enzyme activity …

us, cn, jp, ca, ro, br, pt, pe, sg, in, Égypte (code pays fourni par la source)

Anifrolumab treatment of Singleton-Merten syndrome 2 due to a novel RIGI variant

Evan E. Hsu, Courtney E LeSon, Michael T. Lam, Seigo Okada et autres

us, jp, cn (code pays fourni par la source)

Multi‐institutional experience with COVID‐19 convalescent plasma in children

Monica I. Ardura, Michele M. Loi, Zachary Willis, Oren M. Gordon et autres

BACKGROUND AND OBJECTIVES: Convalescent COVID-19 plasma (CCP) was developed and used worldwide as a treatment option by supplying passive immunity. Adult studies suggest administering high-titer CCP early in the disease course of patients who are expected to be antibody-negative; however, pediatric experience …

us (code pays fourni par la source)

Novel 3D Approach to Model Non-Alcoholic Fatty Liver Disease using human Pluripotent Stem Cells

Carola Maria Morell, Samantha Grace Tilson, Rute A. Tomaz, Arash Shahsavari et autres

Abstract Background and aims Non-alcoholic fatty liver disease (NAFLD) is a major health care challenge and new therapies are urgently needed. However, the mechanisms underlying disease remain to be understood. Indeed, studying NAFLD remains challenging due to the lack of model systems …

gb, pa, de (code pays fourni par la source)

Reviewer #1 (Public Review): Novel 3D Approach to Model Non-Alcoholic Fatty Liver Disease using human Pluripotent Stem Cells

Carola Maria Morell, Samantha Grace Tilson, Rute A. Tomaz, Arash Shahsavari et autres

Non-alcoholic fatty liver disease (NAFLD) is a major health care challenge and new therapies are urgently needed. However, the mechanisms underlying disease remain to be understood. Indeed, studying NAFLD remains challenging due to the lack of model systems recapitulating the different aspects …

Reviewer #2 (Public Review): Novel 3D Approach to Model Non-Alcoholic Fatty Liver Disease using human Pluripotent Stem Cells

Carola Maria Morell, Samantha Grace Tilson, Rute A. Tomaz, Arash Shahsavari et autres

Non-alcoholic fatty liver disease (NAFLD) is a major health care challenge and new therapies are urgently needed. However, the mechanisms underlying disease remain to be understood. Indeed, studying NAFLD remains challenging due to the lack of model systems recapitulating the different aspects …

Novel 3D Approach to Model Non-Alcoholic Fatty Liver Disease using human Pluripotent Stem Cells

Carola Maria Morell, Samantha Grace Tilson, Rute A. Tomaz, Arash Shahsavari et autres

Abstract Background and aims Non-alcoholic fatty liver disease (NAFLD) is a major health care challenge and new therapies are urgently needed. However, the mechanisms underlying disease remain to be understood. Indeed, studying NAFLD remains challenging due to the lack of model systems …

gb, pa, de (code pays fourni par la source)

Novel 3D Approach to Model Non-Alcoholic Fatty Liver Disease using human Pluripotent Stem Cells

Carola Maria Morell, Samantha Grace Tilson, Rute A. Tomaz, Arash Shahsavari et autres

ABSTRACT Background and aims Non-alcoholic fatty liver disease (NAFLD) is a major health care challenge and new therapies are urgently needed. However, the mechanisms underlying disease remain to be understood. Indeed, studying NAFLD remains challenging due to the lack of model systems …

gb, us, de (code pays fourni par la source)

Multi‐institutional experience with COVID‐19 convalescent plasma in children

Cyril Jacquot, Oren M. Gordon, Daniel K. Noland, Jeffrey R. Donowitz et autres

BACKGROUND AND OBJECTIVES: Convalescent COVID-19 plasma (CCP) was developed and used worldwide as a treatment option by supplying passive immunity. Adult studies suggest administering high-titer CCP early in the disease course of patients who are expected to be antibody-negative; however, pediatric experience …

us, in (code pays fourni par la source)