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 …
introduced to accommodate the many and varied antibody deficiencies being identified in …
Interplay between epigenetic and genetic alterations in inborn errors of immunity
J Rodríguez-Ubreva, CL Calvillo, LRF Satter… - Trends in …, 2023 - cell.com
Inborn errors of immunity (IEIs) comprise a variety of immune conditions leading to
infections, autoimmunity, allergy, and cancer. Some IEIs have no identified mutation (s) …
infections, autoimmunity, allergy, and cancer. Some IEIs have no identified mutation (s) …
Establishing the molecular diagnoses in a cohort of 291 patients with predominantly antibody deficiency by targeted next-generation sequencing: experience from a …
J Rojas-Restrepo, A Caballero-Oteyza… - Frontiers in …, 2021 - frontiersin.org
Predominantly antibody deficiencies (PAD) are a heterogeneous group of disorders
characterized by dysfunctional antibody production, low immunoglobulin levels in serum …
characterized by dysfunctional antibody production, low immunoglobulin levels in serum …
B-and T-cell subset abnormalities in monogenic common variable immunodeficiency
S Fekrvand, S Khanmohammadi… - Frontiers in …, 2022 - frontiersin.org
Common variable immunodeficiency (CVID) is a heterogeneous group of inborn errors of
immunity characterized by reduced serum concentrations of different immunoglobulin …
immunity characterized by reduced serum concentrations of different immunoglobulin …
[HTML][HTML] Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae
EA Tuovinen, O Kuismin, L Soikkonen, T Martelius… - Clinical …, 2023 - Elsevier
Nuclear factor κ light-chain enhancer of activated B cells (NF-κB) family of evolutionarily
conserved transcription factors are involved in key cellular signaling pathways. Previously …
conserved transcription factors are involved in key cellular signaling pathways. Previously …
Genomic crossroads between non-Hodgkin's lymphoma and common variable immunodeficiency
K Guevara-Hoyer, J Fuentes-Antrás… - Frontiers in …, 2022 - frontiersin.org
Common variable immunodeficiency (CVID) represents the largest group of primary
immunodeficiencies that may manifest with infections, inflammation, autoimmunity, and …
immunodeficiencies that may manifest with infections, inflammation, autoimmunity, and …
[PDF][PDF] Beneficial effect of ursodeoxycholic acid in patients with acyl‐CoA oxidase 2 (ACOX2) deficiency–associated hypertransaminasemia
M Alonso‐Peña, R Espinosa‐Escudero, E Herraez… - …, 2022 - Wiley Online Library
Background and Aims A variant (p. Arg225Trp) of peroxisomal acyl‐CoA oxidase 2
(ACOX2), involved in bile acid (BA) side‐chain shortening, has been associated with …
(ACOX2), involved in bile acid (BA) side‐chain shortening, has been associated with …
[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 …
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50
M Fliegauf, M Kinnunen, S Posadas-Cantera… - Frontiers in …, 2022 - frontiersin.org
Most of the currently known heterozygous pathogenic NFKB1 (Nuclear factor kappa B
subunit 1) variants comprise deleterious defects such as severe truncations, internal …
subunit 1) variants comprise deleterious defects such as severe truncations, internal …
Vaccination for patients with inborn errors of immunity: a nationwide survey in Japan
S Hosaka, T Kido, K Imagawa, H Fukushima… - Journal of Clinical …, 2022 - Springer
We conducted a nationwide survey of inborn errors of immunity (IEI) in Japan for the second
time in 10 years, focusing on protective measures for IEI patients against infectious …
time in 10 years, focusing on protective measures for IEI patients against infectious …