Investigating pulmonary and non-infectious complications in common variable immunodeficiency disorders: a UK national multi-centre study

HM Bintalib, S Grigoriadou, SY Patel, L Mutlu… - Frontiers in …, 2024 - frontiersin.org
Background Common Variable Immunodeficiency Disorders (CVID) encompass a spectrum
of immunodeficiency characterised by recurrent infections and diverse non-infectious …

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 …

Genetic characteristics of a large pediatric cohort of patients with inborn errors of immunity: single-center experience

N Kuzmenko, M Alexenko, A Mukhina, Y Rodina… - Journal of Clinical …, 2024 - Springer
More than 450 genetic defects result in inborn errors of immunity (IEI). Their individual
prevalence in specific cohorts is influenced by national characteristics and other factors. We …

Genetic causes of primary immunodeficiency in the Jordanian population

L Obeidat, M Abu-Halaweh, R Alzyoud… - Biomedical …, 2024 - spandidos-publications.com
Ιnborn errors of immunity (IEI) represents a heterogenous collection of> 480 immune system
anomalies, leading to severe infections, autoimmune disorders and malignancies. While …

Human Inborn Errors of Immunity (HIEI): predominantly antibody deficiencies (PADs): if you suspect it, you can detect it

MMS Vilela - Jornal de Pediatria, 2021 - SciELO Brasil
Objective: This minireview gathers the scientific foundations of the literature on genetic
errors in the development of the humoral immune system to help pediatricians suspect these …

The relevance of primary immunodeficiency registries on a global perspective

A Condino-Neto, KE Sullivan - Journal of Allergy and Clinical …, 2021 - jacionline.org
Primary immunodeficiencies or inborn errors of immunity (IEIs), are a group of more than
400 monogenic diseases that present with recurrent infections, immune dysregulation …

IgG antibody response to pneumococcal-conjugated vaccine (Prevenar® 13) in children with immunodeficiency disorders

M Garrido-Jareño, JM Sahuquillo-Arce… - Medical Microbiology …, 2023 - Springer
Measurement of anti-pneumococcal capsular polysaccharides (anti-PnPs) IgG titers is an
important tool in the immunologic assessment of patients with suspected immunodeficiency …