BTK, Bruton tyrosine kinase, 695

N. diseases: 233; N. variants: 6
Disease: Agammaglobulinemia ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.500 GeneticVariation disease BEFREE We aimed to evaluate clinical findings, BTK function and KREC copy numbers in three patients with BTK mutations presenting with impaired polysaccharide responsiveness without agammaglobulinaemia. 31378960 2020
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.500 GeneticVariation disease BEFREE The pathogenic origins of these two diseases are different; agammaglobulinemia is a group of inherited disorders that usually are caused by mutations in the gene encoding Bruton Tyrosine Kinase (BTK) protein while CVID is a heterogeneous disorder mainly without monogenic cause. 31059734 2019
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.500 GeneticVariation disease BEFREE Among 550 registered patients, the predominant genetic defects associated with agammaglobulinemia (48 Bruton's tyrosine kinase [BTK] and 6 μ heavy chain deficiencies), HIgM syndrome (21 CD40 ligand and 7 activation-induced cytidine deaminase deficiencies), and CVID (17 lipopolysaccharides-responsive beige-like anchor deficiency and 12 atypical Immunodeficiency, Centromeric instability, and Facial dysmorphism syndromes) were identified. 30240888 2019
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.500 Biomarker disease BEFREE One hundred and thirty-nine (70%) of 199 patients aged 1-80 years from nine cities in the United Kingdom with agammaglobulinaemia currently listed on the UK Primary Immune Deficiency (UKPID) registry were recruited into this retrospective case study and their clinical and laboratory features analysed; 94% were male, 78% of whom had Bruton tyrosine kinase (BTK) gene mutations. 28990652 2018
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.500 GeneticVariation disease BEFREE Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia. 26387629 2015
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.500 Biomarker disease BEFREE Mutations in the gene encoding for Bruton's tyrosine kinase (Btk) are responsible for most of the agammaglobulinemia. 17765309 2008
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.500 GeneticVariation disease BEFREE Characterization of novel Bruton's tyrosine kinase gene mutations in Central European patients with agammaglobulinemia. 17045652 2007
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.500 GeneticVariation disease BEFREE X-linked (Bruton's) agammaglobulinemia (XLA) is a rare immunodeficiency caused by a block in B-cell development caused by mutations in the Bruton's tyrosine kinase (BTK) gene. 16159644 2005
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.500 GeneticVariation disease BEFREE Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation. 12958074 2004
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.500 GeneticVariation disease BEFREE Several recent studies have determined that agammaglobulinemia was caused by the loss of Bruton's tyrosine kinase (Btk) function. 11034248 2000
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.500 GeneticVariation disease BEFREE Mutations in the gene for Bruton's tyrosine kinase (BTK) are responsible for the majority of agammaglobulinemia cases. 10859027 2000
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.500 Biomarker disease BEFREE Cutting edge: lack of peripheral B cells and severe agammaglobulinemia in mice simultaneously lacking Bruton's tyrosine kinase and the B cell-specific transcriptional coactivator OBF-1. 10604987 2000
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.500 GeneticVariation disease BEFREE Defects in the btk gene lead to agammaglobulinemia (XLA) in humans and X-linked immunodeficiency (xid) in mice. 10080529 1999
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.500 GeneticVariation disease BEFREE Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia. 8090769 1994
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.500 GeneticVariation disease BEFREE The gene encoding Bruton tyrosine kinase (Btk) is known to be mutated in human X chromosome-linked agammaglobulinemia and in the Xid mouse. 7524098 1994