Zobrazeno 1 - 10
of 134
pro vyhledávání: '"Howard M, Lederman"'
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Sweet syndrome is an acute febrile neutrophilic dermatosis characterized by the infiltration of neutrophils into the skin. It may occur idiopathically or be linked to malignancies, inflammatory or autoimmune diseases. Leukocyte adhesion deficiency ty
Externí odkaz:
https://doaj.org/article/2098303c667a4cd9b138ab73ec34ea13
Autor:
Nigel S. Michki, Benjamin D. Singer, Javier V. Perez, Aaron J. Thomas, Valerie Natale, Kathryn A. Helmin, Jennifer Wright, Leon Cheng, Lisa R. Young, Howard M. Lederman, Sharon A. McGrath-Morrow
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Introduction Ataxia telangiectasia (A-T) is an autosomal recessive neurodegenerative disease with widespread systemic manifestations and marked variability in clinical phenotypes. In this study, we sought to determine whether transcriptomic
Externí odkaz:
https://doaj.org/article/7728c4ec26df47879e833f078300c83e
Autor:
Valerie A. I. Natale, Tim J. Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O. Crawford, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Haley Schlechter, Howard M. Lederman
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this disease. At this time, two main severity groups are defined in
Externí odkaz:
https://doaj.org/article/f21ac658da604bb7a100f376a6f1d66d
Autor:
Oren Gordon, Mary Katherine Brosnan, Steve Yoon, Dawoon Jung, Kirsten Littlefield, Abhinaya Ganesan, Christopher A. Caputo, Maggie Li, William R. Morgenlander, Stephanie N. Henson, Alvaro A. Ordonez, Patricia De Jesus, Elizabeth W. Tucker, Nadine Peart Akindele, Zexu Ma, Jo Wilson, Camilo A. Ruiz-Bedoya, M. Elizabeth M. Younger, Evan M. Bloch, Shmuel Shoham, David Sullivan, Aaron A.R. Tobian, Kenneth R. Cooke, Ben Larman, Jogarao V.S. Gobburu, Arturo Casadevall, Andrew Pekosz, Howard M. Lederman, Sabra L. Klein, Sanjay K. Jain
Publikováno v:
JCI Insight, Vol 7, Iss 2 (2022)
BACKGROUND While most children who contract COVID-19 experience mild disease, high-risk children with underlying conditions may develop severe disease, requiring interventions. Kinetics of antibodies transferred via COVID-19 convalescent plasma early
Externí odkaz:
https://doaj.org/article/dd0c2a9ab4b14dc49bfbf39f9343ac3a
Autor:
Valerie A. I. Natale, Tim J. Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O. Crawford, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Haley Schlechter, Howard M. Lederman
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-1 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/b8c498a49e844960a91a0614b93df1f4
Autor:
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Thomas O. Crawford, Howard M. Lederman
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-21 (2016)
Abstract Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often refe
Externí odkaz:
https://doaj.org/article/bcbb84e4f4fe4717ab29495b63f2b845
Autor:
Sharon A McGrath-Morrow, Roland Ndeh, Joseph M Collaco, Cynthia Rothblum-Oviatt, Jennifer Wright, Michael A O'Reilly, Benjamin D Singer, Howard M Lederman
Publikováno v:
PLoS ONE, Vol 13, Iss 12, p e0209496 (2018)
IntroductionClassic ataxia telangiectasia (A-T) is an autosomal recessive disease characterized by early onset ataxia, immune deficiency, sino-pulmonary disease, lymphoid/solid malignancies and telangiectasias. Prior studies have suggested that chron
Externí odkaz:
https://doaj.org/article/f4e3f03d01754412bc1b557e15fa82d1
Autor:
Haley Schlechter, Thomas O. Crawford, Sharon A McGrath-Morrow, Jennifer Wright, Howard M. Lederman, Valerie A. I. Natale, Cynthia C Rothblum-Oviatt, Maureen A. Lefton-Greif
Publikováno v:
Journal of Multidisciplinary Healthcare
Ataxia telangiectasia (A-T) is a rare autosomal recessive disease caused by mutations in the ataxia telangiectasia mutated (ATM) gene. In the absence of a family history, the diagnosis of A-T is usually not made until the child is older and symptomat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5c401465256572a787f6c1ac9d7735e
http://europepmc.org/articles/PMC8253936
http://europepmc.org/articles/PMC8253936
Autor:
Thomas O. Crawford, Haley Schlechter, Jennifer Wright, Tim J Cole, Valerie A. I. Natale, Sharon A. McGrath-Morrow, Maureen A. Lefton-Greif, Howard M. Lederman, Cynthia Rothblum-Oviatt
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this disease. At this time, two main severity groups are defined in A-T: clas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79d3801f3b45617284157a701366095b
https://doaj.org/article/f21ac658da604bb7a100f376a6f1d66d
https://doaj.org/article/f21ac658da604bb7a100f376a6f1d66d
Autor:
Sanjay K. Jain, Anna C. Sick-Samuels, Howard M. Lederman, Aaron M. Milstone, Rachel L. Troch, Suzanne Kochis
Publikováno v:
Pediatr Rev
1. Rachel L. Troch, MD* 2. Suzanne Kochis, MD*,† 3. Aaron M. Milstone, MD, MHS*,‡ 4. Sanjay Jain, MD*,‡ 5. Howard Lederman, MD*,† 6. Anna C. Sick-Samuels, MD, MPH*,‡ 1. *Department of Pediatrics, 2. †Division of Pediatric Allergy and Immu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e36fa6749a802ae8fcff30baba4a634
https://doi.org/10.1542/pir.2018-0312
https://doi.org/10.1542/pir.2018-0312