Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase delta syndrome

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10292988" target="_blank" >RIV/00064203:_____/14:10292988 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/14:10292988
Result on the web
<a href="http://dx.doi.org/10.1016/j.jaci.2014.02.020" target="_blank" >http://dx.doi.org/10.1016/j.jaci.2014.02.020</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jaci.2014.02.020" target="_blank" >10.1016/j.jaci.2014.02.020</a>

Result language
angličtina
Original language name
Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase delta syndrome
Original language description
Activated phosphoinositide 3-kinase ? syndrome (APDS) is a novel autosomal-dominant primary immunodeficiency (PID) caused by a heterozygous gain-of-function mutation in the PIK3CD gene encoding the p110? protein, the catalytic subunit of phosphoinositide3-kinase ? (PI3K?).1 The c.3061G>A mutation results in a substitution of a glutamic acid by a lysine at position 1021 (E1021K). This new PID is characterized by recurrent respiratory infections, leading to bronchiectasis, progressive lymphopenia, and defective antibody production.
Czech name
—
Czech description
—

Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EC - Immunology
OECD FORD branch
—

Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Similar results(10)