Results 51 to 60 of about 8,781 (227)
Differential in vitro infection of neural cells by astroviruses [PDF]
, 2019 Encephalitis remains a diagnostic conundrum in humans as over 50% of cases are managed without the identification of an etiology. Astroviruses have been detected from the central nervous system of mammals in association with disease, suggesting that this
Janowski, Andrew B +2 more
core +2 more sources
Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report
Immunity, Inflammation and Disease, 2023 Background X‐linked agammaglobulinemia (XLA) is the most common form of agammaglobulinemia and is caused by mutations in Btk, which encodes Bruton tyrosine kinase (BTK).
Cindy Srinivasan +3 more
doaj +1 more source
Journal of Behçet Uz Children's Hospital, 2023 Objective: As a primary immunodeficiency X-linked agammaglobulinemia (XLA) that develops due to Bruton tyrosine kinase signal transduction protein deficiency which progresses with antibody deficiency was firstly described by an American pediatrician ...
Ezgi Balkarlı +6 more
doaj +1 more source
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 +4 more
core +4 more sources
Frontiers in Immunology, 2020 X-linked agammaglobulinemia (XLA) is a clinically and genetically well-defined immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent bacterial infections, profound hypogammaglobulinemia, and ...
Jacques G. Rivière +17 more
doaj +1 more source
Role of Bruton's tyrosine kinase in B cells and malignancies [PDF]
, 2018 Bruton's tyrosine kinase (BTK) is a non-receptor kinase that plays a crucial role in oncogenic signaling that is critical for proliferation and survival of leukemic cells in many B cell malignancies. BTK was initially shown to be defective in the primary
Dammeijer, F. (Floris) +2 more
core +3 more sources
Medicine, 1985 We have defined the clinical presentation and course of X-linked agammaglobulinemia (X-LA) by means of a multi-center retrospective survey of 96 patients. Infections were the most common presenting feature of patients with X-LA. The most frequent infections involved the upper respiratory tract (75%), lower respiratory tract (65%), gastrointestinal ...
Jerry A. Winkelstein, Howard M. Lederman
openaire +3 more sources
A Case of Fabry's Disease with Congenital Agammaglobulinemia [PDF]
, 2011 Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and ...
Bernstein +22 more
core +2 more sources
Subcutaneous Immunoglobulin Replacement Therapy with Hizentra® is Safe and Effective in Children Less Than 5 Years of Age. [PDF]
, 2015 BACKGROUND:Hizentra® (IGSC 20%) is a 20% liquid IgG product approved for subcutaneous administration in adults and children 2 years of age and older who have primary immunodeficiency disease (PIDD). There is limited information about the use of IGSC 20 %
Atkinson, Thomas Prescott +10 more
core +2 more sources
Membranoproliferative Glomerulonephritis and X-Linked Agammaglobulinemia: An Uncommon Association
Case Reports in Pediatrics, 2014 Introduction. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by agammaglobulinemia requiring replacement treatment with immunoglobulin.
Vasco Lavrador +6 more
doaj +1 more source