Results 71 to 80 of about 18,379 (288)

Efficacy and Safety of Hizentra®, a New 20% Immunoglobulin Preparation for Subcutaneous Administration, in Pediatric Patients with Primary Immunodeficiency [PDF]

, 2011
Subcutaneous IgG treatment for primary immunodeficiencies (PI) is particularly well suited for children because it does not require venous access and is mostly free of systemic adverse events (AEs).
Bernd Belohradsky, Bodo Grimbacher, Jutta Neufang-Hueber, Malgorzata Pac, Margit Serban, Michael Borte, Othmar Zenker, Stephen Jolles, Teresa Gonzalez-Quevedo   +8 more
core   +2 more sources

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1337-1346, June 2026.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

Prolonged Excretion of Poliovirus among Individuals with Primary Immunodeficiency Disorder: An Analysis of the World Health Organization Registry. [PDF]

, 2017
Individuals with primary immunodeficiency disorder may excrete poliovirus for extended periods and will constitute the only remaining reservoir of virus after eradication and withdrawal of oral poliovirus vaccine.
Dooling, Kathleen, Gilmour, Stuart, iVDPV Working Group, Kew, Olen M, Liao, Yi, Mach, Ondrej, Macklin, Grace, Sutter, Roland W, Takane, Marina   +8 more
core   +2 more sources

Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer

Molecular Oncology, Volume 20, Issue 5, Page 1299-1322, May 2026.
PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta, Yang Song, Madeleine Ndahayo, Anirudh Saxena, Theresa Guo, Dylan Z. Kelley, Jessica Gore, Andrew Hennigan, Alexa Anderson, John C. Papadimitriou, Daria A. Gaykalova   +10 more
wiley   +1 more source

Understanding secondary hypogammaglobulinemia and its implications for cancer prognosis in children: A retrospective cohort study

Biomédica: revista del Instituto Nacional de Salud
Introduction. Immunodeficiencies are disturbances in the immune system that can affect cell function, quantity, or both. They can be either primary, associated with genetic defects, or secondary, linked to external factors such as hemato-oncological ...
Ana Lucía Guzmán, Isabella Villamil, Sofía Martínez-Betancur, Oriana Arias-Valderrama, Jacobo Triviño-Arias, Jessica Largo, Viviana Lotero, Alexis Franco, Ximena Castro, Pamela Rodríguez, Luz Angela Urcuqui, Diego Medina, Manuela Olaya   +12 more
doaj   +1 more source

Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis. [PDF]

J Clin Immunol
Blom M, Duintjer AJ, Jamee M, de Gier M, Bloomfield M, Klocperk A, Kralickova P, Karaca NE, Boyarchuk O, Čižnár P, Jeseňák M, Sharapova S, Skopovets E, Gonzalez-Granado LI, Palmeri S, Volpi S, Nalda AM, Tello SR, Soler-Palacín P, Abolhassani H, Pulvirenti F, Cinicola B, Wintergerst U, de Bree GJ, van den Berg JM, Leavis HL, Vermont C, Dalm VASH, van Aerde K, Henriet S, Jolink H, Potjewijd J, Lankester A, Mukherjee CR, Berghuis D, Pac M, Shillitoe BMJ, Gennery AR, van der Burg M.   +38 more
europepmc   +2 more sources

The lung in primary immunodeficiencies: new concepts in infection and inflammation [PDF]

, 2018
Immunoglobulin replacement therapy (IGRT) has contributed critically to the management of primary antibody deficiencies (PAD) and the decrease in pneumonia rate.
Baumann, Ulrich, Jolles, Stephen, Routes, John M., Soler-Palacín, Pere, Universitat Autònoma de Barcelona   +4 more
core   +4 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia

Frontiers in Immunology, 2020
Background: X-linked agammaglobulinemia (XLA) is caused by a mutation of the Bruton's tyrosine kinase (BTK) gene and is the most common genetic mutation in patients with congenital agammaglobulinemia.
Y. Yeh, M. Hsieh, Wen-I. Lee, Jing-Long Huang, Li-Chen Chen, K. Yeh, L. Ou, T. Yao, Chao-Yi Wu, Syh-Jae Lin   +9 more
semanticscholar   +1 more source

Factors Affecting Immune Reconstitution Post‐Allogeneic HSCT in Children: The Case for an Individualized Approach to Vaccination

European Journal of Haematology, Volume 116, Issue 4, Page 336-349, April 2026.
ABSTRACT Allogeneic hematopoietic stem cell transplantation (HSCT) is increasingly used to treat malignant and non‐malignant diseases. Following allogeneic HSCT, patients are particularly vulnerable to vaccine‐preventable diseases (VPD) because conditioning depletes immune cells, including memory cells.
Hélène Buvelot, Frederic Baleydier, Laure Pittet, Geraldine Blanchard‐Rohner   +3 more
wiley   +1 more source