|
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 |
|
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 |
|
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 |
|
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 |
|
Agammaglobulinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia.
|
26387629 |
2015 |
|
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 |
|
Agammaglobulinemia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Transient myelodysplastic syndrome in X-linked agammaglobulinemia with a novel Btk mutation.
|
18726917 |
2008 |
|
Agammaglobulinemia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient.
|
17707910 |
2008 |
|
Agammaglobulinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Characterization of novel Bruton's tyrosine kinase gene mutations in Central European patients with agammaglobulinemia.
|
17045652 |
2007 |
|
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 |
|
Agammaglobulinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation.
|
12958074 |
2004 |
|
Agammaglobulinemia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.
|
14974089 |
2004 |
|
Agammaglobulinemia
|
0.500 |
Therapeutic
|
disease |
CTD_human |
Sustained correction of B-cell development and function in a murine model of X-linked agammaglobulinemia (XLA) using retroviral-mediated gene transfer.
|
15142874 |
2004 |
|
Agammaglobulinemia
|
0.500 |
Biomarker
|
disease |
LHGDN |
Novel aspects of hypogammaglobulinemic states.
|
12001708 |
2002 |
|
Agammaglobulinemia
|
0.500 |
Biomarker
|
disease |
LHGDN |
XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.
|
12405164 |
2002 |
|
Agammaglobulinemia
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Molecular analysis of Bruton's tyrosine kinase gene in Spain.
|
11438999 |
2001 |
|
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 |
|
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 |
|
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 |
|
Agammaglobulinemia
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Early arrest in B cell development in transgenic mice that express the E41K Bruton's tyrosine kinase mutant under the control of the CD19 promoter region.
|
10352268 |
1999 |
|
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 |
|
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 |
|
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 |
|
Agammaglobulinemia
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|