[HTML][HTML] Inborn errors of human B cell development, differentiation, and function
B cells develop from hematopoietic stem cells in the bone marrow. Once generated, they
serve multiple roles in immune regulation and host defense. However, their most important …
serve multiple roles in immune regulation and host defense. However, their most important …
The Rapidly Expanding Genetic Spectrum of Common Variable Immunodeficiency–Like Disorders
R Ameratunga, ESJ Edwards, K Lehnert… - The Journal of Allergy …, 2023 - Elsevier
The understanding of common variable immunodeficiency disorders (CVID) is in evolution.
CVID was previously a diagnosis of exclusion. New diagnostic criteria have allowed the …
CVID was previously a diagnosis of exclusion. New diagnostic criteria have allowed the …
[HTML][HTML] Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis
K Nurmi, K Silventoinen, S Keskitalo, K Rajamäki… - Cell Reports …, 2024 - cell.com
In monogenic autoinflammatory diseases, mutations in genes regulating innate immune
responses often lead to uncontrolled activation of inflammasome pathways or the type I …
responses often lead to uncontrolled activation of inflammasome pathways or the type I …
How do nuclear factor kappa B (NF-κB) 1 and NF-κB2 defects lead to the incidence of clinical and immunological manifestations of inborn errors of immunity?
N Fathi, H Mojtahedi, M Nasiri… - Expert Review of …, 2023 - Taylor & Francis
Introduction Genetic defects affect the manner of the immune system's development,
activation, and function. Nuclear factor-kappa B subunit 1 (NF-κB1) and NF-κB2 are involved …
activation, and function. Nuclear factor-kappa B subunit 1 (NF-κB1) and NF-κB2 are involved …
Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens
M Fasshauer, S Dinges, O Staudacher, M Völler… - Frontiers in …, 2024 - frontiersin.org
In patients with severe and recurrent infections, minimal diagnostic workup to test for Inborn
Errors of Immunity (IEI) includes a full blood count, IgG, IgA and IgM. Vaccine antibodies …
Errors of Immunity (IEI) includes a full blood count, IgG, IgA and IgM. Vaccine antibodies …
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency
N Nakatani, A Tamura, H Hanafusa, N Nino… - Human Genome …, 2024 - nature.com
Recently, heterozygous loss-of-function NFKB1 variants were identified as the primary
cause of common variable immunodeficiency (CVID) in the European population. However …
cause of common variable immunodeficiency (CVID) in the European population. However …
Human Immunodeficiencies Caused by Inborn Errors of B-Cell Development or Function
Mature B cells develop from hematopoietic stem cells in the bone marrow. Once generated,
B cells serve multiple roles in immune regulation and host defence. However, their most …
B cells serve multiple roles in immune regulation and host defence. However, their most …
Evaluation of mucin-1, nuclear factor κB, and hemoglobin A1c levels in obese and non-obese individuals
M Fadıloğlu, AS Bozkurt, E Akarsu… - Revista da Associação …, 2024 - SciELO Brasil
SUMMARY OBJECTIVE: Obesity is a chronic multisystem disease associated with increased
morbidity and mortality. Obesity, which is a complex, multifactorial, and heterogeneous …
morbidity and mortality. Obesity, which is a complex, multifactorial, and heterogeneous …
[PDF][PDF] Transcription factor interactions and environment in wild type and pathogenic variants
M Kinnunen - 2023 - helda.helsinki.fi
Transcription factors (TFs) are proteins which orchestrate the gene expression machinery of
cells. Gene regulation is a multilayered system where transcription factors are in many ways …
cells. Gene regulation is a multilayered system where transcription factors are in many ways …
[HTML][HTML] Phenotypic and mechanistic clues to inborn errors of immunity
E Tuovinen - 2023 - helda.helsinki.fi
Inborn Errors of Immunity (IEI) are a heterogenic group of disorders caused by germline
alterations in genes that regulate the development and function of the immune system …
alterations in genes that regulate the development and function of the immune system …