Results 91 to 100 of about 15,127 (297)

Long-term efficacy and safety of Hizentra® in patients with primary immunodeficiency in Japan, Europe, and the United States: a Review of 7 Phase 3 Trials [PDF]

, 2018
Many patients with primary immunodeficiency (PID) require immunoglobulin G (IgG) replacement therapy, delivered as intravenous IgG (IVIG) or subcutaneous IgG (SCIG). We aim to identify trends in efficacy and safety that would not be evident in individual
Borte, Michael, Imai, Kohsuke, Jolles, Stephen, Kanegane, Hirokazu, Lawo, John-Philip, Nelson, Robert, Rojavin, Mikhail A., Tortorici, Michael A., Wasserman, Richard L.   +8 more
core   +2 more sources

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

Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme

Pediatric Allergy and Immunology, Volume 36, Issue 5, May 2025.
Abstract Background Severe combined immunodeficiency (SCID) is a fatal but treatable inborn error of immunity (IEI). Newborn screening (NBS) using T‐cell receptor excision circles (TREC) has been adopted globally, with very few countries incorporating kappa recombination excision circles (KREC) to also detect early B‐cell development disorders, such as
Markéta Bloomfield, Eva Hlaváčková, Helena Schneiderová, Marek Turnovec, Lukáš Tichý, Zbyněk Čech, Petr Chrastina, Lenka Dvořáková, Karolína Pešková, Renata Formánková, Petr Říha, Marcela Vlková, Petr Bejdák, Magdaléna Havlišová, Eva Froňková, Tomáš Kalina, Viktor Bíly, Dita Říčná, Hana Grombiříková, Petr Sedláček, Jiří Litzman, Tomáš Freiberger, Anna Šedivá, Adam Klocperk   +23 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

Arthritis and X-linked agammaglobulinemia [PDF]

, 2008
Primary immunodeficiencies are defined as genetically determined functional and/or quantitative abnormalities in one or more of the components of the immune system.
Chieira, C, Faria, E, Machado, P, Malcata, AB, Santos, A, Silva, J   +5 more
core  

Molecular diagnostics of primary immunodeficiencies in Sverdlovsk region

Медицинская иммунология, 2021
The article presents the results of the work performed by the laboratory of molecular diagnostics at the Medical Center “Health Care of Mother and Child” for the diagnosis of primary immunodeficiency in Sverdlovsk region over 5 years.
S. S. Deryabina, O. V. Lagutina, I. A. Tuzankina, E. V. Vlasova, M. A. Bolkov   +4 more
doaj  

The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

Molecular Genetics & Genomic Medicine, 2020
We report the first case of a family with co‐occurrence of Wilson disease (WD), an autosomal recessive disorder of copper metabolism, and X‐linked agammaglobulinemia (XLA), a primary immunodeficiency disorder (PIDD) that features marked reduction in ...
Sheri A. Poskanzer, Jenny M Thies, Christopher J. Collins, Candace T. Myers, Remwilyn Dayuha, Phi Duong, Fan Yi, I. Chang, H. Ochs, T. Torgerson, S. Hahn   +10 more
semanticscholar   +1 more source

Monogenic Common Variable Immunodeficiency (Mo‐CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort

European Journal of Immunology, Volume 55, Issue 3, March 2025.
A mutation was identified in 47% of the CVID‐enrolled patients and, in the majority, it was not related to CVID according to the IUIS classification, leading to a diagnostic metamorphosis of this pathological entity. The Mo‐CVID Score could help clinicians prioritize genetic analysis in pediatric CVID patients. The image was created with BioRender.com.
Federica Barbati, Lorenzo Lodi, Silvia Boscia, Martina Cortimiglia, Elisa Calistri, Francesca Quaranta, Laura Maggi, Alessio Mazzoni, Boaz Palterer, Francesco Annunziato, Chiara Azzari, Silvia Ricci   +11 more
wiley   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter

JIMD Reports, Volume 66, Issue 1, January 2025.
Abstract The tightly‐regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn2+ transporters: the 14‐member ZIP/SLC39 family, facilitating Zn2+ influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10‐member ZnT/SLC30 family, mobilizing ...
Vadim Dolgin, Pauline Chabosseau, Jacob Bistritzer, Iris Noyman, Orna Staretz‐Chacham, Ohad Wormser, Noam Hadar, Marina Eskin‐Schwartz, Bibi Kanengisser‐Pines, Ginat Narkis, Ramy Abramsky, Eilon Shany, Guy A. Rutter, Kyla Marks, Ohad S. Birk   +14 more
wiley   +1 more source