Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton’s tyrosine kinase case-study [PDF]
, 2023 IntroductionInborn errors of immunity (IEI) are an expanding group of rare diseases whose field has been boosted by next-generation sequencing (NGS), revealing several new entities, accelerating routine diagnoses, expanding the number of atypical ...
B. González Martínez +17 more
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Impaired precursor B cell differentiation in Bruton's tyrosine kinase-deficient mice [PDF]
, 2002 Bruton's tyrosine kinase (Btk) is a cytoplasmic signaling molecule that is crucial for precursor (pre-B) cell differentiation in humans. In this study, we show that during the transition of large cycling to small resting pre-B cells in ...
Dingjan, G.M. (Gemma) +2 more
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Splice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia model [PDF]
, 2014 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
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A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus [PDF]
, 2002 Males with X-linked agammaglobulinaemia (XLA) due to mutations in the Bruton tyrosine kinase gene constitute the major group of congenital hypogammaglobulinaemia with absence of peripheral B cells.
Antunes, H +7 more
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Primary immunodeficiency in Hong Kong and the use of genetic analysis for diagnosis [PDF]
, 2005 Objectives. To review the management of primary immunodeficiency and discuss recent advances in genetic analysis. Design. Retrospective study. Setting. University teaching hospital, Hong Kong. Patients.
Chan, KW +4 more
core
, 2015 Bruton’s disease, in other terms X-linked agammaglobulinemia (XLA), is the first reported primary immunodeficiency in 1952, caused by a single genetic defect.
Camcıoğlu, Yıldız
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Advances in bronchiectasis:endotyping, genetics, microbiome, and disease heterogeneity [PDF]
, 2018 Bronchiectasis is characterised by pathological dilation of the airways. More specifically, the radiographic demonstration of airway enlargement is the common feature of a heterogeneous set of conditions and clinical presentations.
Chalmers, James D. +2 more
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COVID-19 and X-linked agammaglobulinemia (XLA) - insights from a monogenic antibody deficiency [PDF]
, 2021 Purpose of review The clinical outcomes from COVID-19 in monogenic causes of predominant antibody deficiency have pivotal implications for our understanding of the antiviral contribution of humoral immunity.
Gennery, Andrew R. +4 more
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Iranian Journal of Allergy, Asthma and Immunology, 2004 X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the Bruton tyrosine kinase (Btk) gene. In order to identify the mutations in Btk gene in Iranian patients with antibody deficiency, 13 male patients with an XLA phenotype ...
"Asghar Aghamohammadi +11 more
doaj
A Support Vector Machine Base Model for Predicting Heparin-Binding Proteins Using Biological Metrics and XB Patterns as Features [PDF]
, 2016 Heparin is a highly sulphated and negatively charged polysaccharides belonging to the glycosamino- glycans(GAGs) family. It is widely used in medical treatments as an injectable anticoagulant.
Sirrianni, Joseph W
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