Challenges for gene editing in common variable immunodeficiency disorders: Current and future prospects

R Ameratunga, E Leung, ST Woon, E Lea, C Allan… - Clinical …, 2023 - Elsevier
The original CRISPR Cas9 gene editing system and subsequent innovations offers
unprecedented opportunities to correct severe genetic defects including those causing …

Cytomegalovirus drives Vδ1+ γδ T cell expansion and clonality in common variable immunodeficiency

S Chan, B Morgan, MK Yong, M Margetts… - Nature …, 2024 - nature.com
The function and phenotype of γδ T cells in the context of common variable
immunodeficiency (CVID) has not been explored. CVID is a primary immunodeficiency …

The autoimmune rheumatological presentation of Common Variable Immunodeficiency Disorders with an overview of genetic testing

R Ameratunga, ST Woon, E Leung, E Lea… - Seminars in Arthritis and …, 2024 - Elsevier
Primary immunodeficiency Disorders (PIDS) are rare, mostly monogenetic conditions which
can present to a number of specialties. Although infections predominate in most PIDs, some …

[HTML][HTML] High occurrence of autoimmune and lymphoproliferative manifestations in adults with common variable immunodeficiency in southernTaiwan

CR Wang, HW Tsai, CC Shieh - Journal of the Formosan Medical …, 2023 - Elsevier
There are no reported case series of common variable immunodeficiency (CVID) from
southern Taiwan. A 20-year review was performed in adult CVID from a southern Taiwan …

Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency

M Garcia-Prat, L Batlle-Masó, A Parra-Martínez… - Journal of Clinical …, 2024 - Springer
The term common variable immunodeficiency (CVID) encompasses a clinically diverse
group of disorders, mainly characterized by hypogammaglobulinemia, insufficient specific …

IgD+IgM B Cells in Common Variable Immunodeficiency

TM Kasahara, S Gupta - Pathogens, 2024 - mdpi.com
Common variable immunodeficiency (CVID) is the most frequent form of primary
hypogammaglobulinemia in adults. In addition to recurrent infections and respiratory …

[HTML][HTML] A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity

I Stojkic, BT Prince, HS Kuehn, AAG Silva, EA Varga… - Clinical …, 2024 - Elsevier
Common variable immune deficiency (CVID) is a heterogenous group of disorders
characterized by varying degrees of hypogammaglobulinemia, recurrent infections, and …

An Exploratory Approach of Clinically Useful Biomarkers of Cvid by Logistic Regression

T Guerra-Galán, M Palacios-Ortega… - Journal of Clinical …, 2024 - Springer
Despite advancements in genetic and functional studies, the timely diagnosis of common
variable immunodeficiency (CVID) remains a significant challenge. This exploratory study …

Must Reads for Clinicians Seeking a Better Understanding of Primary Immune Deficiency Disorders and Related Disorders

M Ballow, JB Ziegler - The Journal of Allergy and Clinical …, 2023 - jaci-inpractice.org
The World Health Organization in 1970 convened a committee to classify and define the
primary immune deficiency disorders (PIDDs). A report of 14 different entities was described …

[PDF][PDF] Immunophenotype, Clinical Effect, and Comparison of TNFRSF13B/TACI Mutations: A Single-Center Retrospective Cohort Study of 34 Patients.

E Cepniler, E Abdullayev… - Turkish Journal of …, 2023 - jag.journalagent.com
Objective: In this study, the clinical and laboratory findings, complications, and responses to
regular intravenous immunoglobulin (IVIG) treatment of 34 common variable …