Evolving gene therapy in primary immunodeficiency

AJ Thrasher, DA Williams - Molecular Therapy, 2017 - cell.com
Prior to the first successful bone marrow transplant in 1968, patients born with severe
combined immunodeficiency (SCID) invariably died. Today, with a widening availability of …

Advances in the treatment of severe combined immunodeficiency

MA Slatter, AR Gennery - Clinical Immunology, 2022 - Elsevier
Abstract Severe Combined Immunodeficiency (SCID) is the most profound inborn error of
immunity affecting cellular and humoral immunity. Hematopoietic stem cell transplantation …

The recombinase activating genes: architects of immune diversity during lymphocyte development

M Braams, K Pike-Overzet, FJT Staal - Frontiers in Immunology, 2023 - frontiersin.org
The mature lymphocyte population of a healthy individual has the remarkable ability to
recognise an immense variety of antigens. Instead of encoding a unique gene for each …

Human genetic and immunological dissection of papillomavirus-driven diseases: new insights into their pathogenesis

V Béziat, JL Casanova, E Jouanguy - Current opinion in virology, 2021 - Elsevier
Human papillomaviruses (HPVs) are responsible for cutaneous and mucosal lesions.
Persistent HPV infection remains a leading cause of uterine cancer in women, but also of …

Parents' perspectives and societal acceptance of implementation of newborn screening for SCID in the Netherlands

M Blom, RGM Bredius, ME Jansen, G Weijman… - Journal of clinical …, 2021 - Springer
Purpose While neonatal bloodspot screening (NBS) for severe combined immunodeficiency
(SCID) has been introduced more than a decade ago, implementation in NBS programs …

Novel CARMIL2 mutations in patients with variable clinical dermatitis, infections, and combined immunodeficiency

AM Alazami, M Al-Helale, S Alhissi, B Al-Saud… - Frontiers in …, 2018 - frontiersin.org
Combined immunodeficiencies are a heterogeneous collection of primary immune disorders
that exhibit defects in T cell development or function, along with impaired B cell activity even …

Determinants of neurological syndromes caused by varicella zoster virus (VZV)

PGE Kennedy, TH Mogensen - Journal of NeuroVirology, 2020 - Springer
Varicella zoster virus (VZV) is a pathogenic human herpes virus which causes varicella as a
primary infection, following which it becomes latent in peripheral autonomic, sensory, and …

Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis

V Béziat - Human genetics, 2020 - Springer
Human papillomaviruses (HPVs) infect mucosal or cutaneous stratified epithelia. There are
5 genera and more than 200 types of HPV, each with a specific tropism and virulence. HPV …

Clinical, immunological, and molecular features of typical and atypical severe combined immunodeficiency: report of the italian primary immunodeficiency network

E Cirillo, C Cancrini, C Azzari, S Martino… - Frontiers in …, 2019 - frontiersin.org
Severe combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune
system, usually associated with severe or life-threatening infections. Due to the variability of …

Lessons learned from five years of newborn screening for severe combined immunodeficiency in Israel

A Lev, I Sharir, AJ Simon, S Levy, YN Lee… - The Journal of Allergy …, 2022 - Elsevier
Background Implementation of newborn screening (NBS) programs for severe combined
immunodeficiency (SCID) have advanced the diagnosis and management of affected infants …