Results 21 to 30 of about 17,569 (308)

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

Journal of Experimental Medicine, 2021
PU.1 haploinsufficiency reduces the access of key transcription factors to open chromatin regions, undermines essential stage-specific transcriptional programs, and arrests human B cell development at the pro– to pre–B cell transition.
Carole Le Coz, David N. Nguyen, Chun Su, B. Nolan, Amanda V Albrecht, Suela Xhani, Di Sun, B. Demaree, Piyush Pillarisetti, C. Khanna, Francis Wright, P. Chen, Samuel Yoon, A. L. Stiegler, K. Maurer, James P Garifallou, Amy Rymaszewski, S. Kroft, T. Olson, A. Seif, G. Wertheim, S. Grant, Linda T. Vo, J. Puck, K. Sullivan, J. Routes, V. Zakharova, A. Shcherbina, A. Mukhina, Natasha L Rudy, A. Hurst, T. Atkinson, T. Boggon, H. Hakonarson, A. Abate, J. Hajjar, S. Nicholas, J. Lupski, J. Verbsky, Ivan K. Chinn, Michael V. Gonzalez, A. Wells, A. Marson, G. Poon, Neil Romberg   +44 more
semanticscholar   +1 more source

A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years

Case Reports in Immunology, 2022
Agammaglobulinemia is a rare inherited immunodeficiency disorder. Mutations in the BLNK gene cause low levels of mature B lymphocytes in the peripheral blood leading to recurrent infections.
Ezgi Topyildiz, Neslihan Edeer Karaca, Ayse Aygun, Ayca Aykut, Asude Durmaz, Guzide Aksu, Necil Kutukculer   +6 more
doaj   +1 more source

B cell–specific lentiviral gene therapy leads to sustained B-cell functional recovery in a murine model of X-linked agammaglobulinemia [PDF]

Blood, 2010
Stephanie Humblet-Baron, David J Rawlings   +1 more
exaly   +2 more sources

A Patient with X-Linked Agammaglobulinemia and COVID-19 Infection Treated with Remdesivir and Convalescent Plasma

Journal of Clinical Immunology, 2021
To the Editor: Over the past year, the coronavirus disease 2019 (COVID19) has resulted in a worldwide pandemic. The disease results in a wide range of clinical presentations that range from asymptomatic to respiratory failure and death. To date, only two
Aled Iaboni, N. Wong, S. Betschel
semanticscholar   +1 more source

Optimizing Integration and Expression of Transgenic Bruton's Tyrosine Kinase for CRISPR-Cas9-Mediated Gene Editing of X-Linked Agammaglobulinemia.

The CRISPR Journal, 2021
X-linked agammaglobulinemia (XLA) is a monogenic primary immune deficiency characterized by very low levels of immunoglobulins and greatly increased risks for recurrent and severe infections.
David Gray, Isaac Villegas, Joseph D. Long, Jasmin L. Santos, A. Keir, Alison Abele, C. Kuo, D. Kohn   +7 more
semanticscholar   +1 more source

Minor Clinical Impact of COVID-19 Pandemic on Patients With Primary Immunodeficiency in Israel

Frontiers in Immunology, 2021
In the last few months the world has witnessed a global pandemic due to severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection causing coronavirus disease 2019 (COVID-19).
Nufar Marcus, Nufar Marcus, Nufar Marcus, Shirly Frizinsky, Shirly Frizinsky, Shirly Frizinsky, Shirly Frizinsky, Shirly Frizinsky, David Hagin, David Hagin, David Hagin, Adi Ovadia, Adi Ovadia, Adi Ovadia, Suhair Hanna, Suhair Hanna, Michael Farkash, Michael Farkash, Michael Farkash, Ramit Maoz-Segal, Ramit Maoz-Segal, Ramit Maoz-Segal, Nancy Agmon-Levin, Nancy Agmon-Levin, Nancy Agmon-Levin, Arnon Broides, Arnon Broides, Amit Nahum, Amit Nahum, Elli Rosenberg, Elli Rosenberg, Amir Asher Kuperman, Amir Asher Kuperman, Yael Dinur-Schejter, Yael Dinur-Schejter, Yackov Berkun, Yackov Berkun, Ori Toker, Ori Toker, Ori Toker, Shmuel Goldberg, Shmuel Goldberg, Ronit Confino-Cohen, Ronit Confino-Cohen, Oded Scheuerman, Basel Badarneh, Basel Badarneh, Na‘ama Epstein-Rigbi, Amos Etzioni, Amos Etzioni, Ilan Dalal, Ilan Dalal, Ilan Dalal, Ilan Dalal, Raz Somech, Raz Somech   +55 more
doaj   +1 more source

X-linked agammaglobulinemia

Definitions, 2020
X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection.
Larry W. Moreland
semanticscholar   +1 more source

Cost Utility of Lifelong Immunoglobulin Replacement Therapy vs Hematopoietic Stem Cell Transplant to Treat Agammaglobulinemia.

JAMA pediatrics, 2021
Importance Lifelong immunoglobulin replacement therapy (IRT) is standard-of-care treatment for congenital agammaglobulinemia but accrues high annual costs ($30 000-$90 000 per year) and decrements to quality of life over patients' life spans ...
Di Sun, J. Heimall, M. Greenhawt, N. Bunin, M. Shaker, Neil Romberg   +5 more
semanticscholar   +1 more source

The Clinical Course of COVID-19 Pneumonia in a 19-Year-Old Man on Intravenous Immunoglobulin Replacement Therapy for X-Linked Agammaglobulinemia

The American journal of case reports, 2021
Patient: Male, 19-year-old Final Diagnosis: COVID-19 Symptoms: Cough • diarrhea • fever • shortness of breath Medication: — Clinical Procedure: — Specialty: Immunology • Infectious Diseases • Pulmonology Objective: Rare co-existance of disease or ...
A. Almontasheri, F. Al-Husayni, A. Alsuraihi, Hanan S Binyahib, A. Albanna   +4 more
semanticscholar   +1 more source

Gastrointestinal Manifestations in X-linked Agammaglobulinemia

Journal of Clinical Immunology, 2017
Sara Barmettler, Roshini S Abraham, Zuhair K Ballas   +2 more
exaly   +2 more sources