Impaired polysaccharide responsiveness without agammaglobulinaemia in three patients with hypomorphic mutations in Bruton Tyrosine Kinase—No detection by newborn screening for primary immunodeficiencies [PDF]
AbstractHypomorphic mutations in the gene encoding Bruton tyrosine kinase (BTK) may result in milder phenotypes and delayed diagnosis of B‐cell related immunodeficiencies due to residual BTK function. Newborn screening for kappa‐deleting‐recombination‐excision circles (KRECs) reliably identifies classical X‐linked agammaglobulinaemia (XLA) patients ...
Renate Krüger +11 more
openaire +3 more sources
Severe platelet dysfunction in NHL patients receiving ibrutinib is absent in patients receiving acalabrutinib [PDF]
The Bruton’s tyrosine kinase (Btk) inhibitor ibrutinib induces platelet dysfunction and causes increased risk of bleeding. Off-target inhibition of Tec is believed to contribute to platelet dysfunction and other side-effects of ibrutinib.
Appleby, Niamh +10 more
core +2 more sources
Invasive Aspergillosis in Patients Treated With Ibrutinib
HemaSphere, Volume 4, Issue 2, April 2020.
Moritz Fürstenau +6 more
wiley +1 more source
Optimization of immunoglobulin substitution therapy by a stochastic immune response model [PDF]
Background: The immune system is a complex adaptive system of cells and molecules that are interwoven in a highly organized communication network. Primary immune deficiencies are disorders in which essential parts of the immune system are absent or do ...
Marc Thilo Figge +41 more
core +1 more source
Effects of BTK signalling in pathogenic microorganism infections
Abstract As a cytoplasmic protein tyrosine kinase, Bruton's tyrosine kinase (Btk) is widely considered as a vital kinase in many aspects of different physiologic processes. It is engaged in many important signalling pathways related to the immune response, such as the B cell receptor pathway, pattern‐recognition receptor pathway, and triggering ...
Bingjue Ye +3 more
wiley +1 more source
Disseminated Cryptococcal Disease in a Patient with Chronic Lymphocytic Leukemia on Ibrutinib
Cryptococcus is a unique environmental fungus that can cause disease most often in immunocompromised individuals with defective cell‐mediated immunity. Chronic lymphocytic leukemia (CLL) is not known to be a risk factor for cryptococcal disease although cases have been described mainly in patients treated with agents that suppress cell‐mediated ...
Koh Okamoto +3 more
wiley +1 more source
The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008 [PDF]
Primary immunodeficiencies (PID) are rare diseases; therefore transnational studies are essential to maximize the scientific outcome and to improve diagnosis and therapy.
Abuzakouk M. +70 more
core +1 more source
Itk: The Rheostat of the T Cell Response
The nonreceptor tyrosine kinase Itk plays a key role in TCR‐initiated signaling that directly and significantly affects the regulation of PLCγ1 and the consequent mobilization of Ca2+. Itk also participates in the regulation of cytoskeletal reorganization as well as cellular adhesion, which is necessary for a productive T cell response.
Juris A. Grasis +2 more
wiley +1 more source
B lymphocytes as effector cells in the immunotherapy of cancer [PDF]
Over the years, the role of B cells in the host immune response to malignancy has been overshadowed by our focus on T cells. Nevertheless, B cells play important roles as antigen‐presenting cells and in the production of antibodies.
Chang, Alfred E. +8 more
core +1 more source
Splice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia model [PDF]
X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency that results from mutations within the gene encoding Bruton’s tyrosine kinase (BTK). Many XLA-associated mutations affect splicing of BTK pre-mRNA and severely impair B cell development ...
Behlke, Mark A +20 more
core +1 more source

