Practical guidance for the evaluation and management of drug hypersensitivity: specific drugs

AD Broyles, A Banerji, S Barmettler, CM Biggs… - The Journal of Allergy …, 2020 - Elsevier
Allergists and clinical immunologists around the world are increasingly faced with the task of
addressing drug allergy and hypersensitivity due to the increase in drug reactions …

PI3K pathway defects leading to immunodeficiency and immune dysregulation

CJ Nunes-Santos, G Uzel, SD Rosenzweig - Journal of Allergy and Clinical …, 2019 - Elsevier
The phosphatidylinositol 3–kinase (PI3K) signaling pathway is involved in a broad range of
cellular processes, including growth, metabolism, differentiation, proliferation, motility, and …

A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome

VK Rao, S Webster, A Šedivá, A Plebani… - Blood, The Journal …, 2023 - ashpublications.org
Activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) is an inborn error of
immunity with clinical manifestations including infections, lymphoproliferation, autoimmunity …

[PDF][PDF] Aberrant super‐enhancer landscape in human hepatocellular carcinoma

FHC Tsang, CT Law, TCC Tang, CLH Cheng… - …, 2019 - Wiley Online Library
Hepatocellular carcinoma (HCC) cells exploit an aberrant transcriptional program to sustain
their infinite growth and progression. Emerging evidence indicates that the continuous and …

GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension

K Drzewiecki, J Choi, J Brancale… - Journal of Experimental …, 2021 - rupress.org
Portal hypertension is a major contributor to decompensation and death from liver disease, a
global health problem. Here, we demonstrate homozygous damaging mutations in GIMAP5 …

Heterogeneity of liver disease in common variable immunodeficiency disorders

A Pecoraro, L Crescenzi, G Varricchi… - Frontiers in …, 2020 - frontiersin.org
Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency
(PID) in adulthood and is characterized by severe reduction of immunoglobulin serum levels …

Genetic predisposition to porto-sinusoidal vascular disorder

N Ciriaci, L Bertin, PE Rautou - Hepatology, 2024 - journals.lww.com
Porto-sinusoidal vascular disorder is a rare liver disease. The pathophysiological
mechanisms underlying the development of porto-sinusoidal vascular disorder are …

[PDF][PDF] The spectrum of hepatic involvement in patients with telomere disease

D Kapuria, G Ben‐Yakov, R Ortolano, MH Cho… - …, 2019 - Wiley Online Library
Loss‐of‐function mutations in genes that encode for components of the telomere repair
complex cause accelerated telomere shortening. Hepatic involvement has been recognized …

Disorders related to PI3Kδ hyperactivation: characterizing the clinical and immunological features of activated PI3-kinase delta syndromes

V Redenbaugh, T Coulter - Frontiers in Pediatrics, 2021 - frontiersin.org
Phosphoinositide-3-kinase δ (PI3Kδ) is found in immune cells and is part of the
PI3K/AKT/mTOR/S6K signalling pathway essential to cell survival, growth and differentiation …

Seletalisib for activated PI3Kδ syndromes: open-label phase 1b and extension studies

N Diaz, M Juarez, C Cancrini, M Heeg… - The Journal of …, 2020 - journals.aai.org
Mutations in two genes can result in activated PI3Kδ syndrome (APDS), a rare
immunodeficiency disease with limited therapeutic options. Seletalisib, a potent, selective …