Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

J Li, WT Lei, P Zhang, F Rapaport… - Journal of Experimental …, 2021 - rupress.org
Autosomal dominant (AD) NFKB1 deficiency is thought to be the most common genetic
etiology of common variable immunodeficiency (CVID). However, the causal link between …

Of mycelium and men: inherent human susceptibility to fungal diseases

DC Vinh - Pathogens, 2023 - mdpi.com
In medical mycology, the main context of disease is iatrogenic-based disease. However,
historically, and occasionally, even today, fungal diseases affect humans with no obvious …

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 …

Defining the Role of Nuclear Factor (NF)-κB p105 Subunit in Human Macrophage by Transcriptomic Analysis of NFKB1 Knockout THP1 Cells

D Somma, FO Kok, D Kerrigan, CA Wells… - Frontiers in …, 2021 - frontiersin.org
Since its discovery over 30 years ago the NF-ĸB family of transcription factors has gained the
status of master regulator of the immune response. Much of what we understand of the role …

Inborn errors of immunity: Recent progress

N Seth, KS Tuano, J Chinen - Journal of Allergy and Clinical Immunology, 2021 - Elsevier
Recent advances in the field of inborn errors of immunity (IEIs) have been wide in scope,
including progress in mechanisms of disease, diagnosis, and management. New gene …

Mistuned NF-κB signaling in lymphocytes: lessons from relevant inborn errors of immunity

G Dabbah-Krancher, AL Snow - Clinical and Experimental …, 2023 - academic.oup.com
Inborn errors of immunity (IEIs) continuously remind us that multiple checks and balances
are built into the adaptive immune system to maintain homeostasis, ensuring effective …

Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant

K Lecerf, DC Koboldt, HS Kuehn, V Jayaraman… - …, 2023 - academic.oup.com
Objective To explore and define the molecular cause (s) of a multi-generational kindred
affected by Bechet's-like mucocutaneous ulcerations and immune dysregulation. Methods …

Nomogram for predicting early mortality after umbilical cord blood transplantation in children with inborn errors of immunity

P Wang, C Liu, Z Wei, W Jiang, H Sun, Y Wang… - Journal of Clinical …, 2023 - Springer
Purpose Pediatric patients with inborn errors of immunity (IEI) undergoing umbilical cord
blood transplantation (UCBT) are at risk of early mortality. Our aim was to develop and …

Pomelo peel oil alleviates cerebral NLRP3 inflammasome activation in a cardiopulmonary resuscitation rat model

XS Zou, L Xie, WY Wang, GY Zhao… - Experimental and …, 2021 - spandidos-publications.com
The NLR family pyrin domain‑containing 3 (NLRP3) inflammasome, which is composed of
NLRP3, apoptosis‑associated speck‑like protein containing a CARD (ASC) and pro‑caspase …

Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review

N Fathi, M Nirouei, Z Salimian Rizi, S Fekrvand… - Journal of Clinical …, 2024 - Springer
Background Inborn errors of immunity (IEIs) encompass various diseases with diverse
clinical and immunological symptoms. Determining the genotype–phenotype of different …