Human inborn errors of immunity: an expanding universe

LD Notarangelo, R Bacchetta, JL Casanova… - Science …, 2020 - science.org
Molecular, cellular, and clinical studies of human inborn errors of immunity have
revolutionized our understanding of their pathogenesis, considerably broadened their …

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

J Bustamante, S Boisson-Dupuis, L Abel… - Seminars in …, 2014 - Elsevier
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized
by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG …

[HTML][HTML] Hematopoietic stem cell transplantation in primary immunodeficiency diseases: current status and future perspectives

R Castagnoli, OM Delmonte, E Calzoni… - Frontiers in …, 2019 - frontiersin.org
Primary immunodeficiencies (PID) are disorders that for the most part result from mutations
in genes involved in immune host defense and immunoregulation. These conditions are …

[HTML][HTML] Lethal infectious diseases as inborn errors of immunity: toward a synthesis of the germ and genetic theories

JL Casanova, L Abel - Annual Review of Pathology …, 2021 - annualreviews.org
It was first demonstrated in the late nineteenth century that human deaths from fever were
typically due to infections. As the germ theory gained ground, it replaced the old, unproven …

RHO GTPases: from new partners to complex immune syndromes

R El Masri, J Delon - Nature Reviews Immunology, 2021 - nature.com
Ras homology (RHO) GTPases are signalling proteins that have crucial roles in triggering
multiple immune functions. Through their interactions with a broad range of effectors and …

Severe combined immunodeficiencies and related disorders

A Fischer, LD Notarangelo, B Neven… - Nature reviews Disease …, 2015 - nature.com
Severe combined immunodeficiencies (SCIDs) comprise a group of rare, monogenic
diseases that are characterized by an early onset and a profound block in the development …

Cell response to mechanical microenvironment cues via Rho signaling: From mechanobiology to mechanomedicine

N Xie, C Xiao, Q Shu, B Cheng, Z Wang, R Xue, Z Wen… - Acta Biomaterialia, 2023 - Elsevier
Mechanical cues in the cell microenvironment such as those from extracellular matrix
properties, stretching, compression and shear stress, play a critical role in maintaining …

Inherited DOCK2 deficiency in patients with early-onset invasive infections

K Dobbs, C Domínguez Conde, SY Zhang… - … England Journal of …, 2015 - Mass Medical Soc
Background Combined immunodeficiencies are marked by inborn errors of T-cell immunity
in which the T cells that are present are quantitatively or functionally deficient. Impaired …

Model systems of human papillomavirus‐associated disease

J Doorbar - The Journal of pathology, 2016 - Wiley Online Library
Human papillomaviruses (HPVs) cause a range of serious diseases, including the vast
majority of cervical cancers, most anal cancers and around half of head and neck cancers …

The biology of beta human papillomaviruses

M Tommasino - Virus research, 2017 - Elsevier
The beta genus comprises more than 50 beta human papillomavirus (HPV) types that are
suspected to be involved, together with ultraviolet (UV) irradiation, in the development of non …