Human inborn errors of immunity: an expanding universe

LD Notarangelo, R Bacchetta, JL Casanova… - Science …, 2020 - science.org
Molecular, cellular, and clinical studies of human inborn errors of immunity have
revolutionized our understanding of their pathogenesis, considerably broadened their …

[PDF][PDF] Beyond the role of CD55 as a complement component

SH Dho, JC Lim, LK Kim - Immune network, 2018 - synapse.koreamed.org
The complement is a part of the immune system that plays several roles in removing
pathogens. Despite the importance of the complement system, the exact role of each …

[HTML][HTML] Practical guidance for the diagnosis and management of secondary hypogammaglobulinemia: A Work Group Report of the AAAAI Primary Immunodeficiency …

IM Otani, HK Lehman, AM Jongco, LR Tsao… - Journal of Allergy and …, 2022 - Elsevier
Secondary hypogammaglobulinemia (SHG) is characterized by reduced immunoglobulin
levels due to acquired causes of decreased antibody production or increased antibody loss …

An integrated taxonomy for monogenic inflammatory bowel disease

C Bolton, CS Smillie, S Pandey, R Elmentaite, G Wei… - Gastroenterology, 2022 - Elsevier
Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

[HTML][HTML] CD55 deficiency, early-onset protein-losing enteropathy, and thrombosis

A Ozen, WA Comrie, RC Ardy… - … England Journal of …, 2017 - Mass Medical Soc
Background Studies of monogenic gastrointestinal diseases have revealed molecular
pathways critical to gut homeostasis and enabled the development of targeted therapies …

Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management

J Schröder-Braunstein, M Kirschfink - Molecular immunology, 2019 - Elsevier
Complement defects are associated with an enhanced risk of a broad spectrum of infectious
as well as systemic or local inflammatory and thrombotic disorders. Inherited complement …

Early‐onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms

J Pazmandi, A Kalinichenko, RC Ardy… - Immunological …, 2019 - Wiley Online Library
Rare, monogenetic diseases present unique models to dissect gene functions and
biological pathways, concomitantly enhancing our understanding of the etiology of complex …

Complement and the prothrombotic state

CQ Schmidt, H Schrezenmeier… - Blood, The Journal of …, 2022 - ashpublications.org
In 2007 and 2009, the regulatory approval of the first-in-class complement inhibitor
eculizumab revolutionized the clinical management of 2 rare, life-threatening clinical …

Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease

A Ozen, N Kasap, I Vujkovic-Cvijin, R Apps… - Nature …, 2021 - nature.com
Complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy
(CHAPLE disease) is a lethal disease caused by genetic loss of the complement regulatory …

Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing …

A Ozen, V Chongsrisawat, AP Sefer, B Kolukisa… - The Lancet, 2024 - thelancet.com
Background CD55 deficiency with hyperactivation of complement, angiopathic thrombosis,
and protein-losing enteropathy (CHAPLE) is an ultra-rare genetic disorder characterised by …