Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage
Genetic mutations cause primary immunodeficiencies (PIDs) that predispose to infections.
Here, we describe activated PI3K-δ syndrome (APDS), a PID associated with a dominant gain-…
Here, we describe activated PI3K-δ syndrome (APDS), a PID associated with a dominant gain-…
PI3Kδ and primary immunodeficiencies
Primary immunodeficiencies are inherited disorders of the immune system, often caused by
the mutation of genes required for lymphocyte development and activation. Recently, several …
the mutation of genes required for lymphocyte development and activation. Recently, several …
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
…, K Downes, V Plagnol, R Bailey, S Nejentsev… - Nature …, 2007 - nature.com
The Wellcome Trust Case Control Consortium (WTCCC) primary genome-wide association (GWA)
scan 1 on seven diseases, including the multifactorial autoimmune disease type 1 …
scan 1 on seven diseases, including the multifactorial autoimmune disease type 1 …
Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A
S Nejentsev, JMM Howson, NM Walker, J Szeszko… - Nature, 2007 - nature.com
The major histocompatibility complex (MHC) on chromosome 6 is associated with susceptibility
to more common diseases than any other region of the human genome, including almost …
to more common diseases than any other region of the human genome, including almost …
Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes
Genome-wide association studies (GWASs) are regularly used to map genomic regions
contributing to common human diseases, but they often do not identify the precise causative …
contributing to common human diseases, but they often do not identify the precise causative …
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
…, D Kumararatne, R Doffinger, S Nejentsev - …, 2012 - academic.oup.com
… line refers to an optimum dataset in the absence of sample-to-sample technical variability
( forumla = 1), longer dash to the typical dispersion parameter estimated from Dataset 1 (R s …
( forumla = 1), longer dash to the typical dispersion parameter estimated from Dataset 1 (R s …
[HTML][HTML] Activated PI3 kinase delta syndrome: from genetics to therapy
D Michalovich, S Nejentsev - Frontiers in immunology, 2018 - frontiersin.org
… The use, distribution or reproduction in other forums is permitted, provided the original
author(s) and the copyright owner are credited and that the original publication in this journal is …
author(s) and the copyright owner are credited and that the original publication in this journal is …
[HTML][HTML] Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: a large patient cohort study
…, K Okkenhaug, C Picard, S Nejentsev… - Journal of Allergy and …, 2017 - Elsevier
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described
combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene …
combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene …
Evolution and transmission of drug-resistant tuberculosis in a Russian population
The molecular mechanisms determining the transmissibility and prevalence of drug-resistant
tuberculosis in a population were investigated through whole-genome sequencing of 1,000 …
tuberculosis in a population were investigated through whole-genome sequencing of 1,000 …
[HTML][HTML] Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: a cohort study
… S. Nejentsev has received research support from MRC and GlaxoSmithKline. TJ Molina
has … S. Kracker has received research support from the ERC advanced grant PID-Immune …
has … S. Kracker has received research support from the ERC advanced grant PID-Immune …