The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies [PDF]
, 2018 Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity.
AA Bousfiha +25 more
core +4 more sources
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A
Human Mutation, Volume 43, Issue 12, Page 2265-2278, December 2022., 2022 Abstract A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane‐tethering protein complexes, HOPS, and CORVET. Whole exome sequencing identified a novel VPS33A mutation in a patient suffering from a variant form of
Elena V. Pavlova +11 more
wiley +1 more source
ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies [PDF]
, 2022 Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder characterized by benign or malignant lymphoproliferation and autoimmunity.
Consonni, F., Favre, C., Gambineri, E.
core +1 more source
TRANSLATION INTO RUSSIAN OF THE CLASSIFICATION OF INBORN ERRORS OF IMMUNITY IN HUMANS UPDATED BY EXPERTS FROM A COMMITTEE ON CONGENITAL IMMUNITY ERRORS OF INTERNATIONAL UNION OF IMMUNOLOGICAL SOCIETIES (RUSSIAN VERSION 2019) [PDF]
, 2022 We present to Russian-speaking audience a translation and commentary on the classification of inborn errors of immunity presented at the end of 2019 by the Committee on Congenital Immunity Errors at the International Union of Immunological Societies ...
Bolkov, M. A. +3 more
core +1 more source
Immune dysfunction in inborn errors of immunity causing malignancies [PDF]
Expert Review of Clinical Immunology, 2021 In recent years, numerous new genetic reasons for human inborn errors of immunity (IEI) have been identified [1,2].
Baris, Safa, Kolukisa, Burcu
openaire +4 more sources
Lipopolysaccharide‐Induced Bone Loss in Rodent Models: A Systematic Review and Meta‐Analysis
Journal of Bone and Mineral Research, Volume 38, Issue 1, Page 198-213, January 2023., 2023 ABSTRACT Osteoporosis has traditionally been characterized by underlying endocrine mechanisms, though evidence indicates a role of inflammation in its pathophysiology. Lipopolysaccharide (LPS), a component of gram‐negative bacteria that reside in the intestines, can be released into circulation and stimulate the immune system, upregulating bone ...
Kirsten N. Bott +6 more
wiley +1 more source
Pathogenesis of Autoimmune Cytopenias in Inborn Errors of Immunity Revealing Novel Therapeutic Targets [PDF]
, 2022 Autoimmune diseases are usually associated with environmental triggers and genetic predisposition. However, a few number of autoimmune diseases has a monogenic cause, mostly in children.
Badolato, Raffaele +7 more
core +1 more source
Evolving Inborn Knowledge For Fast Adaptation in Dynamic POMDP Problems [PDF]
, 2020 Rapid online adaptation to changing tasks is an important problem in machine learning and, recently, a focus of meta-reinforcement learning. However, reinforcement learning (RL) algorithms struggle in POMDP environments because the state of the system, essential in a RL framework, is not always visible. Additionally, hand-designed meta-RL architectures
arxiv +1 more source
Inborn Errors of Immunity in Latvia : Analysis of Data from 1994 to 2020 [PDF]
, 2022 publishersversionPeer ...
Kovaļova, Žanna +3 more
core +1 more source
Liver Transplantation, EarlyView., 2022 Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala +6 more
wiley +1 more source