Results 31 to 40 of about 2,682,884 (340)

Repercussions of inborn errors of immunity on growth

Jornal de Pediatria, 2018
This study aimed to review the literature on the repercussions of the different inborn errors of immunity on growth, drawing attention to the diagnosis of this group of diseases in patients with growth disorders, as well as to enable the identification of the different causes of growth disorders in patients with inborn errors of immunity, which can ...
Ekaterini Goudouris, Gesmar Rodrigues Silva Segundo, M. Cecilia Poli   +2 more
openalex   +8 more sources

Novel Discoveries in Immune Dysregulation in Inborn Errors of Immunity [PDF]

Frontiers in Immunology, 2021
With the expansion of our knowledge on inborn errors of immunity (IEI), it gradually becomes clear that immune dysregulation plays an important part. In some cases, autoimmunity, hyperinflammation and lymphoproliferation are far more serious than infections. Thus, immune dysregulation has become significant in disease monitoring and treatment.
Anwen Ren, Wei Yin, Heather Miller, Lisa S. Westerberg, Fabio Candotti, Chan-Sik Park, Pamela Lee, Quan Gong, Yan Chen, Chaohong Liu   +9 more
openalex   +6 more sources

The Ever-Increasing Array of Novel Inborn Errors of Immunity : an Interim Update by the IUIS Committee [PDF]

, 2021
The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020.
Al-Herz, Waleed, Bousfiha, Aziz, Cunningham-Rundles, Charlotte, Franco, Jose Luis, Holland, Steven M., Klein, Christoph, Meyts, Isabelle, Morio, Tomohiro, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Puel, Anne, Seppänen, Mikko R. J., Somech, Raz, Su, Helen C., Sullivan, Kathleen E., Tangye, Stuart G., Torgerson, Troy R.   +17 more
core   +1 more source

An ACE2 Triple Decoy that neutralizes SARS-CoV-2 shows enhanced affinity for virus variants

Scientific Reports, 2021
The SARS-CoV-2 variants replacing the first wave strain pose an increased threat by their potential ability to escape pre-existing humoral protection. An angiotensin converting enzyme 2 (ACE2) decoy that competes with endogenous ACE2 for binding of the ...
Shiho Tanaka, Gard Nelson, C. Anders Olson, Oleksandr Buzko, Wendy Higashide, Annie Shin, Marcos Gonzalez, Justin Taft, Roosheel Patel, Sofija Buta, Ashley Richardson, Dusan Bogunovic, Patricia Spilman, Kayvan Niazi, Shahrooz Rabizadeh, Patrick Soon-Shiong   +15 more
doaj   +1 more source

Human Inborn Errors of Immunity : 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee [PDF]

, 2022
We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 55 novel monogenic gene defects, and 1 ...
Al-Herz, Waleed, Bousfiha, Aziz, Cunningham-Rundles, Charlotte, Franco, Jose Luis, Holland, Steven M., Klein, Christoph, Meyts, Isabelle, Morio, Tomohiro, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Puel, Anne, Seppänen, Mikko R. J., Somech, Raz, Su, Helen C., Sullivan, Kathleen E., Tangye, Stuart G., Torgerson, Troy R.   +17 more
core   +1 more source

Transition of care in inborn errors of immunity. [PDF]

Curr Opin Allergy Clin Immunol, 2023
Purpose of review This review outlines the principles of transition, summarizes current information about transition practices in inborn errors of immunity (IEI) and highlights general and specific considerations for transition of patients with these conditions.
Tadros S, Burns SO.
europepmc   +3 more sources

RIPK1-Associated Inborn Errors of Innate Immunity

Frontiers in Immunology, 2021
RIPK1 (receptor-interacting serine/threonine-protein kinase 1) is a key molecule for mediating apoptosis, necroptosis, and inflammatory pathways downstream of death receptors (DRs) and pattern recognition receptors (PRRs).
Jiahui Zhang, Jiahui Zhang, Taijie Jin, Taijie Jin, Ivona Aksentijevich, Qing Zhou, Qing Zhou   +6 more
doaj   +1 more source

Atopic manifestations of inborn errors of immunity. [PDF]

Curr Opin Allergy Clin Immunol, 2023
Purpose of review Allergy and atopic features are now well recognized manifestations of many inborn errors of immunity (IEI), and indeed may be the hallmark in some, such as DOCK8 deficiency. In this review, we describe the current IEI associated with atopy, using a comprehensive literature search and updates from the IUIS ...
Sams L, Wijetilleka S, Ponsford M, Gennery A, Jolles S.   +4 more
europepmc   +3 more sources

Gene Edited T Cell Therapies for Inborn Errors of Immunity [PDF]

, 2022
Inborn errors of immunity (IEIs) are a heterogeneous group of inherited disorders of the immune system. Many IEIs have a severe clinical phenotype that results in progressive morbidity and premature mortality.
Booth, C, Fox, TA, Houghton, BC
core   +1 more source

Clinical overview on RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022
Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley   +1 more source