Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia. [PDF]
Journal of Medical Genetics, 1997 Mutations of the Bruton's tyrosine kinase (Btk) gene cause X linked agammaglobulinaemia (XLA). This inherited immunodeficiency disease causes an arrest in B cell differentiation of pre-B cells to mature B cells. In this study we report the characterisation of mutations in the Btk gene in 10 unrelated XLA families.
Brooimans, R.A. +7 more
semanticscholar +8 more sources
Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients [PDF]
Human Mutation, 2000 Mutations in the Bruton's tyrosine kinase (BTK ) gene are responsible for X-linked Agammaglobulinemia (XLA), an immunodeficiency caused by a block in B cell differentiation. Non Isotopic RNAse Cleavage Assay (NIRCA), followed by sequencing was used to screen for BTK mutations in 11 Italian XLA patients. Nine novel mutations were identified: 6 missense (
Orlandi, P +8 more
semanticscholar +6 more sources
Expression of Bruton's tyrosine kinase in B lymphoblastoid cell lines from X-linked agammaglobulinaemia patients [PDF]
Clinical and Experimental Immunology, 1997 SUMMARY X-linked agammaglobulinaemia (XLA) is an immunodeficiency caused by mutations in Bruton's tyrosine kinase (Btk) and is characterized by an almost complete arrest of B cell development. We analysed expression of Btk in B lymphoblastoid cell lines (BLCL) derived from four unrelated XLA patients.
Margriet E. M. Kraakman +8 more
semanticscholar +6 more sources
Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia [PDF]
The EMBO Journal, 1997 Bruton's tyrosine kinase (Btk) is an enzyme which is involved in maturation of B cells. It is a target for mutations causing X-linked agammaglobulinaemia (XLA) in man. We have determined the structure of the N-terminal part of Btk by X-ray crystallography at 1.6 A resolution.
Matti Saraste, Marko Hyvönen
semanticscholar +5 more sources
Impaired polysaccharide responsiveness without agammaglobulinaemia in three patients with hypomorphic mutations in Bruton Tyrosine Kinase—No detection by newborn screening for primary immunodeficiencies [PDF]
Scandinavian Journal of Immunology, 2019 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 ...
Horst von Bernuth +12 more
semanticscholar +6 more sources
Bruton's tyrosine kinase defect in dendritic cells from X-linked agammaglobulinaemia patients does not influence their differentiation, maturation and antigen-presenting cell function [PDF]
Clinical and Experimental Immunology, 2003 SUMMARYX-linked agammaglobulinaemia (XLA) is a primary immunodeficiency disease characterized by very low levels or even absence of circulating antibodies. The immunological defect is caused by deletions or mutations of Bruton's tyrosine kinase gene (Btk), whose product is critically involved in the maturation of pre-B lymphocytes into mature B cells ...
Gagliardi, MC +7 more
semanticscholar +8 more sources
Clinical and Experimental Immunology, 2008 Summary X-linked agammaglobulinaemia (XLA) is characterized by absence of mature B cells because of mutations in the Bruton's tyrosine kinase (Btk) gene. Btk-deficient early B cell precursors experience a block in their differentiation potentially reversible by the addition of an intact Btk gene.
A Ferreira +7 more
semanticscholar +6 more sources
Mouse serum amyloid A (SAA) proteins isolated by two-dimensional electrophoresis: characterization of isotypes and the effect of separate and combined administrations of cytokines, dexamethasone and lipopolysaccharide (LPS) on serum levels and isotype distribution [PDF]
Clinical and Experimental Immunology, 1998 AbstractHydrophobic interaction chromatography and two-dimensional electrophoresis were used to isolate and characterize mouse SAA, and to study the in vivo effect of separate or combined administrations of cytokines, dexamethasone (DEX) and LPS on mouse SAA.
Kinnon, Gaspar, Lester, Levinsky
semanticscholar +11 more sources
Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X‐linked agammaglobulinaemia and carrier females [PDF]
British Journal of Haematology, 2001 X‐linked agammaglobulinaemia (XLA) is a primary immunodeficiency caused by mutations in the gene coding for Bruton's tyrosine kinase (Btk) and is characterized by an arrest of B‐cell development. We analysed Btk protein expression in platelets using flow cytometry and found that normal platelets express large amounts of Btk.
Satoshi Tsukada +4 more
semanticscholar +5 more sources
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases [PDF]
Nature, 1993 X-linked agammaglobulinaemia (XLA) is a human immunodeficiency caused by failure of pre-B cells in the bone marrow to develop into circulating mature B cells. A novel gene has been isolated which maps to the XLA locus, is expressed in B cells, and shows mutations in families with the disorder.
Vetrie, David +11 more
+9 more sources