NF-κB: at the borders of autoimmunity and inflammation

L Barnabei, E Laplantine, W Mbongo… - Frontiers in …, 2021 - frontiersin.org
The transcription factor NF-κB regulates multiple aspects of innate and adaptive immune
functions and serves as a pivotal mediator of inflammatory response. In the first part of this …

Current genetic landscape in common variable immune deficiency

H Abolhassani, L Hammarström… - Blood, The Journal …, 2020 - ashpublications.org
Using whole-exome sequencing to examine the genetic causes of immune deficiency in 235
common variable immunodeficiency (CVID) patients seen in the United States (Mount Sinai …

Whole-genome sequencing of patients with rare diseases in a national health system

E Turro, WJ Astle, K Megy, S Gräf, D Greene… - Nature, 2020 - nature.com
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological
variants and causative genes for more than half such disorders remain to be discovered …

The expansion of human T-bethighCD21low B cells is T cell dependent

B Keller, V Strohmeier, I Harder, S Unger… - Science …, 2021 - science.org
Accumulation of human CD21low B cells in peripheral blood is a hallmark of chronic
activation of the adaptive immune system in certain infections and autoimmune disorders …

Humoral and cellular response following vaccination with the BNT162b2 mRNA COVID-19 vaccine in patients affected by primary immunodeficiencies

D Amodio, A Ruggiero, M Sgrulletti, C Pighi… - Frontiers in …, 2021 - frontiersin.org
Mass SARS-Cov-2 vaccination campaign represents the only strategy to defeat the global
pandemic we are facing. Immunocompromised patients represent a vulnerable population at …

Non-infectious complications of common variable immunodeficiency: updated clinical spectrum, sequelae, and insights to pathogenesis

H Ho, C Cunningham-Rundles - Frontiers in immunology, 2020 - frontiersin.org
Non-infectious complications in common variable immunodeficiency (CVID) have emerged
as a major clinical challenge. Detailed clinical spectrum, organ-specific pathologies and …

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

JED Thaventhiran, H Lango Allen, OS Burren, W Rae… - Nature, 2020 - nature.com
Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening
infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic …

Common variable immunodeficiency: more pathways than roads to Rome

XP Peng, A Caballero-Oteyza… - Annual Review of …, 2023 - annualreviews.org
Fifty years have elapsed since the term common variable immunodeficiency (CVID) was
introduced to accommodate the many and varied antibody deficiencies being identified in …

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 …

Secondary immune deficiency and primary immune deficiency crossovers: hematological malignancies and autoimmune diseases

M Ballow, S Sánchez-Ramón, JE Walter - Frontiers in Immunology, 2022 - frontiersin.org
Primary immunodeficiencies (PIDs), a heterogenous group of inborn errors of immunity, are
predetermined at birth but may evolve with age, leading to a variable clinical and laboratory …