Common Variable Immunodeficiency and Selective IgA Deficiency: Focus on Autoimmune Manifestations and Their Pathogenesis

MC Sircana, G Vidili, A Gidaro, AP Delitala… - International Journal of …, 2023 - mdpi.com
Inborn errors of immunity (IEI) are multifaced diseases which can present with a variety of
phenotypes, ranging from infections to autoimmunity, lymphoproliferation, and neoplasms. In …

38.3 Primary Immunodeficiencies: When is it not just “JIA”

NC Gowda, A Aggarwal - Best Practice & Research Clinical Rheumatology, 2024 - Elsevier
Abstract Juvenile Idiopathic Arthritis (JIA) is sometimes considered a diagnosis of exclusion
as the name signifies that no cause is evident for this form of arthritis. Despite this JIA has …

Infection risk in patients with autoimmune cytopenias and immune dysregulation treated with mycophenolate mofetil and sirolimus

M Comella, E Palmisani, M Mariani… - Frontiers in …, 2024 - frontiersin.org
Introduction Autoimmune cytopenias (AICs) are a group of disorders characterized by
immune-mediated destruction of blood cells. In children, they are often secondary to immune …

Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs)

XP Peng, MS Al-Ddafari, A Caballero-Oteyza… - Clinical …, 2023 - Elsevier
The advent of next-generation sequencing (NGS) technologies has greatly expanded our
understanding of both the clinical spectra and genetic landscape of inborn errors of …

Nature and nurture: understanding phenotypic variation in inborn errors of immunity

M Similuk, T Kuijpers - Frontiers in cellular and infection microbiology, 2023 - frontiersin.org
The overall disease burden of pediatric infection is high, with widely varying clinical
outcomes including death. Among the most vulnerable children, those with inborn errors of …

Severe combined immunodeficiency diagnosis and genetic defects

CS Aranda, MP Gouveia‐Pereira… - Immunological …, 2024 - Wiley Online Library
Severe combined immunodeficiency (SCID) is a rare and life‐threatening genetic disorder
that severely impairs the immune system's ability to defend the body against infections. Often …

Lymphoma as an exclusion criteria for CVID diagnosis revisited

V Allain, V Grandin, V Meignin, R Bertinchamp… - Journal of Clinical …, 2023 - Springer
Purpose Hypogammaglobulinemia in a context of lymphoma is usually considered as
secondary and prior lymphoma remains an exclusion criterion for a common variable …

Genetics of Inborn Errors of Immunity in highly consanguineous Middle Eastern and North African populations

H Al-Mousa, MR Barbouche - Seminars in Immunology, 2023 - Elsevier
Abstract Consanguineous marriages in Middle Eastern and North African (MENA) countries
are deeply-rooted tradition and highly prevalent resulting into increased prevalence of …

Gene editing in human haematopoietic stem cells for the treatment of primary immunodeficiencies

S Bahal, K Karaxhuku, G Santilli - Molecular Diagnosis & Therapy, 2023 - Springer
In recent years, gene-editing technologies have revolutionised precision medicine, and
human trials of this technology have been reported in cell-based cancer therapies and other …

Comparison of pulmonary lesions using lung ultrasound and high-resolution computed tomography in adult patients with primary humoral immunodeficiencies

M Ziętkiewicz, N Buda, E Więsik-Szewczyk… - Frontiers in …, 2022 - frontiersin.org
Pulmonary involvement is the most common complication in patients with predominantly
antibody deficiencies (PADs). Therefore, patients require repeated imaging tests. Unlike …