Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
about
Newly recognized Mendelian disorders with rheumatic manifestationsGain-of-function mutations and immunodeficiency: at a loss for proper tuning of lymphocyte signaling.Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kindThe role of PI3K/Akt in human herpesvirus infection: From the bench to the bedsideImbalanced PTEN and PI3K Signaling Impairs Class Switch Recombination.Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency.PI3Kδ and primary immunodeficiencies.Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort studyUp, Down, and All Around: Diagnosis and Treatment of Novel STAT3 Variant.Studying human immunodeficiencies in humans: advances in fundamental concepts and therapeutic interventions.PI3K inhibitors in inflammation, autoimmunity and cancer.Genomics of Immune Diseases and New Therapies.Identifying genetic determinants of autoimmunity and immune dysregulation.Germline mutations predisposing to diffuse large B-cell lymphoma.Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature.Optimal Management of Autoimmune Lymphoproliferative Syndrome in Children.Genes associated with common variable immunodeficiency: one diagnosis to rule them all?Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans.NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.miRNA profiling during antigen-dependent T cell activation: A role for miR-132-3p.Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1.Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1).PI3Kδ Inhibition Enhances the Antitumor Fitness of Adoptively Transferred CD8+ T CellsHyper-activated PI3K-δ in immunodeficiency.Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.Hematopoietic cell transplantation in primary immunodeficiency - conventional and emerging indications.Epstein-Barr Virus Susceptibility in Activated PI3Kδ Syndrome (APDS) Immunodeficiency.Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.Activated PI3-kinase δ Syndrome: Long-term Follow-up after Cord Blood Transplantation.An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome.Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1.Autoimmunity and primary immunodeficiency: two sides of the same coin?Successful bone marrow transplantation in two sisters with activated phosphoinositide 3-kinase δ syndrome 2.Germinal Center Selection and Affinity Maturation Require Dynamic Regulation of mTORC1 Kinase.Phosphoinositide-3-Kinase Signaling in Human Natural Killer Cells: New Insights from Primary Immunodeficiency.Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy.Exhaustion of the CD8+ T Cell Compartment in Patients with Mutations in Phosphoinositide 3-Kinase Delta.
P2860
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P2860
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
description
2014 nî lūn-bûn
@nan
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Heterozygous splice mutation i ...... to dominant activation of PI3K
@ast
Heterozygous splice mutation i ...... to dominant activation of PI3K
@en
Heterozygous splice mutation i ...... to dominant activation of PI3K
@nl
type
label
Heterozygous splice mutation i ...... to dominant activation of PI3K
@ast
Heterozygous splice mutation i ...... to dominant activation of PI3K
@en
Heterozygous splice mutation i ...... to dominant activation of PI3K
@nl
prefLabel
Heterozygous splice mutation i ...... to dominant activation of PI3K
@ast
Heterozygous splice mutation i ...... to dominant activation of PI3K
@en
Heterozygous splice mutation i ...... to dominant activation of PI3K
@nl
P2093
P2860
P50
P356
P1476
Heterozygous splice mutation i ...... to dominant activation of PI3K
@en
P2093
Anthony Venida
Helen C Su
Helen Matthews
Isil Barlan
Jason Hughes
Joshua McElwee
Michael J Lenardo
Michael Richards
Morgan Butrick
Susan Price
P2860
P304
P356
10.1084/JEM.20141759
P407
P577
2014-12-08T00:00:00Z