Dendritic and T Cell Response to Influenza is Normal in the Patients with X-Linked Agammaglobulinemia [PDF]
, 2011 Introduction Influenza virus is a potential cause of severe disease in the immunocompromised. X-linked agammaglobu-linemia (XLA) is a primary immunodeficiency characterized by the lack of immunoglobulin, B cells, and plasma cells, secondary to mutation ...
A Amedei +41 more
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Low dose Btk inhibitors selectively block platelet activation by CLEC-2 [PDF]
, 2020 Inhibitors of the tyrosine kinase Btk have been proposed as novel antiplatelet agents. In this study we show that low concentrations of the Btk inhibitor ibrutinib block CLEC-2-mediated activation and tyrosine phosphorylation including Syk and PLCγ2 in ...
Brill, Alexander +19 more
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Profound reduction of mature B cell numbers, reactivities and serum lg levels in mice which simultaneously carry the XID and CD40 deficiency gense [PDF]
, 2017 It has been known for some time that single mutant nude or CD40T mice have apparently normal numbers of cells in the precursor compartments of bone marrow and the mature B cell compartments of the periphery.
Andersson, Jan +8 more
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Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies [PDF]
, 2011 The field of primary immunodeficiencies (PIDs) is one of several in the area of clinical immunology that has not been static, but rather has shown exponential growth due to enhanced physician, scientist and patient education and awareness, leading to ...
Roshini S Abraham
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Functional interaction between CD180 Toll-like receptor (TLR) and B cell receptor (BCR) in the biology of Chronic Lymphocytic Leukaemia (CLL) [PDF]
, 2017 Chronic Lymphocytic Leukaemia (CLL) is the most common leukaemia in the western world and remains incurable. It is driven by as yet unknown (auto)antigens via the B cell receptor (BCR) and growth, survival and expansion signals it receives from the ...
Rajakaruna, A., Rajakaruna, A.
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Mutations in topoisomerase IIβ result in a B cell immunodeficiency. [PDF]
, 2019 B cell development is a highly regulated process involving multiple differentiation steps, yet many details regarding this pathway remain unknown. Sequencing of patients with B cell-restricted immunodeficiency reveals autosomal dominant mutations in ...
Austin, Caroline A +22 more
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Btk Mutations Selectively Regulate Btk Expression And Upregulate Monocyte Xbp1 Mrna In Xla Patients. [PDF]
, 2016 Mutations in the Bruton agammaglobulinemia tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA). Unfolded or misfolded proteins can trigger stress pathways in the endoplasmic reticulum (ER), known as unfolded protein response (
Abramczuk, Beatriz M +4 more
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Molecular studies on Burton's tyrosine kinase [PDF]
, 1999 X-Linked agammaglobulinaemia (XLA) is a humoral immunodeficiency resulting from a block in the B cell maturation pathway at the pre-B cell stage. Affected males have normal numbers of pre-B cells in the bone marrow but virtually no mature B cells in the ...
Gaspar, Hubert Baburaj
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Gene editing in haematopoietic stem cells for the treatment of X-Linked Agammaglobulinaemia [PDF]
This project was a pre-clinical feasibility study to design a gene editing strategy for X-Linked Agammaglobulinaemia (XLA). This affects roughly 1 in 250,000 births and is caused by a mutation in the BTK gene.
Bahal, Sameer
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The physical health and quality of life of patients with X-linked agammaglobulinaemia in England and Wales [PDF]
, 2020 Ph. D. Thesis.Background Patients with X-linked agammaglobulinaemia (XLA) have absent peripheral circulating Blymphocytes and agammaglobulinaemia caused by defects in BTK. Treatment consists of life-long immunoglobulin replacement therapy.
Shillitoe, Benjamin Martin James
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