Results 41 to 50 of about 10,404 (208)

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

Identification of a novel BTK variant in a Chinese family with X-linked agammaglobulinemia [PDF]

Jichu yixue yu linchuang, 2021
Objective To identify the pathogenic variant in a Chinese family with X-linked agammaglobulinemia (XLA). Methods A trio family with suspected X-linked agammaglobulinemia was recruited.
ZHANG Han, SUN Yang, WANG Rong-rong, ZHANG Wen, ZHANG Xue
doaj  

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

A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA [PDF]

, 2023
Vivian Hernandez‐Trujillo, Chuan Zhou, Christopher Scalchunes, Hans D. Ochs, Kathleen E. Sullivan, Charlotte Cunningham‐Rundles, Ramsay Fuleihan, Francisco A. Bonilla, Aleksandra Petrović, David J. Rawlings, M. Teresa de la Morena   +10 more
openalex   +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

X-linked agammaglobulinemia and isolated growth hormone deficiency

The Turkish Journal of Pediatrics, 1998
X-linked agammaglobulinemia and isolated growth hormone deficiency was first described in 1980 and then classified as a different primary immune deficiency.
D Arslan, T Patiroğlu, M Kendirci, S Kurtoğlu   +3 more
doaj  

Non-invasive assessment of hepatic involvement in common variable immunodeficiency and agammaglobulinemia using enhanced liver fibrosis score and shearwave elastography

Frontiers in Immunology
BackgroundEarly detection of hepatic involvement in common variable immunodeficiency (CVID) and agammaglobulinemia (AGA) remains hampered by the absence of validated non-invasive biomarkers.
Maja Stojanovic, Maja Stojanovic, Milica Stojkovic-Lalosevic, Milica Stojkovic-Lalosevic, Sanja Stankovic, Sanja Stankovic, Rada Miskovic, Rada Miskovic, Jelena Ljubicic, Ivan Rankovic, Andrej Pesic, Sanja Dragasevic Vucicevic, Sanja Dragasevic Vucicevic, Gordana Petrovic, Branka Bonaci-Nikolic, Branka Bonaci-Nikolic   +15 more
doaj   +1 more source

Viral Immunity in Immunoglobulin Products: Global Immunity Debt and Autoimmunity in the Postpandemic Era

European Journal of Immunology, Volume 56, Issue 3, March 2026.
Immunoglobulin products derived from pooled global plasma reflect population‐level antiviral immunity. Analysis of batches from 2017 to 2023 reveals pandemic‐driven shifts in viral antibody profiles and a concurrent rise in autoantibodies, notably against TRIM21/Ro52, highlighting links between SARS‐CoV‐2, immunity debt, and autoimmunity.
Hannes Lindahl, Katy Shaw‐Saliba, H. Benjamin Larman, C. I. Edvard Smith, Peter Bergman   +4 more
wiley   +1 more source

Oral management of a patient with down syndrome and agammaglobulinemia: a case report

BMC Oral Health, 2020
Background Down syndrome is characterized by a variety of dysmorphic features and congenital malformations, such as congenital heart disease, gastrointestinal disease, and other conditions like leukemia and autoimmune disorders.
Yasuka Kusumoto, Kohsuke Imai, Yoshio Ohyama, Haruhisa Fukayama, Osamu Shinozuka   +4 more
doaj   +1 more source