CTLA-4, an essential immune-checkpoint for T-cell activation

S Chikuma - Emerging Concepts Targeting Immune Checkpoints in …, 2017 - Springer
The response of peripheral T lymphocytes (T cell) is controlled by multiple checkpoints to
avoid unwanted activation against self-tissues. Two opposing costimulatory receptors, CD28 …

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

DJA Bogaert, M Dullaers, BN Lambrecht… - Journal of medical …, 2016 - jmg.bmj.com
Common variable immunodeficiency (CVID) is a primary antibody deficiency characterised
by hypogammaglobulinaemia, impaired production of specific antibodies after immunisation …

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes

J Hadjadj, N Aladjidi, H Fernandes… - Blood, The Journal …, 2019 - ashpublications.org
Evans syndrome (ES) is a rare severe autoimmune disorder characterized by the
combination of autoimmune hemolytic anemia and immune thrombocytopenia. In most …

Differences in CD80 and CD86 transendocytosis reveal CD86 as a key target for CTLA-4 immune regulation

A Kennedy, E Waters, B Rowshanravan, C Hinze… - Nature …, 2022 - nature.com
Abstract CD28 and CTLA-4 (CD152) play essential roles in regulating T cell immunity,
balancing the activation and inhibition of T cell responses, respectively. Although both …

Opportunities and challenges of whole-genome and-exome sequencing

BS Petersen, B Fredrich, MP Hoeppner, D Ellinghaus… - BMC genetics, 2017 - Springer
Recent advances in the development of sequencing technologies provide researchers with
unprecedented possibilities for genetic analyses. In this review, we will discuss the history of …

[HTML][HTML] British Lung Foundation/United Kingdom Primary Immunodeficiency Network consensus statement on the definition, diagnosis, and management of …

JR Hurst, N Verma, D Lowe, HE Baxendale… - The Journal of Allergy …, 2017 - Elsevier
A proportion of people living with common variable immunodeficiency disorders develop
granulomatous-lymphocytic interstitial lung disease (GLILD). We aimed to develop a …

[HTML][HTML] Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity …

VK Tesch, H Abolhassani, B Shadur, J Zobel… - Journal of Allergy and …, 2020 - Elsevier
Background Recent findings strongly support hematopoietic stem cell transplantation
(HSCT) in patients with severe presentation of LPS-responsive beige-like anchor protein …

Systematic discovery and perturbation of regulatory genes in human T cells reveals the architecture of immune networks

JW Freimer, O Shaked, S Naqvi, N Sinnott-Armstrong… - Nature …, 2022 - nature.com
Gene regulatory networks ensure that important genes are expressed at precise levels.
When gene expression is sufficiently perturbed, it can lead to disease. To understand how …

Role of exosomes in the regulation of T-cell mediated immune responses and in autoimmune disease

A Anel, A Gallego-Lleyda, D de Miguel, J Naval… - Cells, 2019 - mdpi.com
T-cell mediated immune responses should be regulated to avoid the development of
autoimmune or chronic inflammatory diseases. Several mechanisms have been described …

Primary immune regulatory disorders with an autoimmune lymphoproliferative syndrome-like phenotype: immunologic evaluation, early diagnosis and management

M López-Nevado, LI González-Granado… - Frontiers in …, 2021 - frontiersin.org
Primary immune regulatory disorders (PIRD) are associated with autoimmunity,
autoinflammation and/or dysregulation of lymphocyte homeostasis. Autoimmune …