Type 2 immunity in the skin and lungs

CA Akdis, PD Arkwright, MC Brüggen, W Busse… - Allergy, 2020 - Wiley Online Library
There has been extensive progress in understanding the cellular and molecular
mechanisms of inflammation and immune regulation in allergic diseases of the skin and …

The ever-increasing array of novel inborn errors of immunity: an interim update by the IUIS committee

SG Tangye, W Al-Herz, A Bousfiha… - Journal of clinical …, 2021 - Springer
The most recent updated classification of inborn errors of immunity/primary
immunodeficiencies, compiled by the International Union of Immunological Societies Expert …

Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee

SG Tangye, W Al-Herz, A Bousfiha, T Chatila… - Journal of clinical …, 2020 - Springer
We report the updated classification of Inborn Errors of Immunity/Primary
Immunodeficiencies, compiled by the International Union of Immunological Societies Expert …

The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity

MG Seidel, G Kindle, B Gathmann, I Quinti… - The Journal of Allergy …, 2019 - Elsevier
Patient registries are instrumental for clinical research in rare diseases. They help to achieve
a sufficient sample size for epidemiological and clinical research and to assess the …

Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment

I Meyts, I Aksentijevich - Journal of clinical immunology, 2018 - Springer
Abstract Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis
syndrome. DADA2 is caused by biallelic hypomorphic mutations in the ADA2 gene that …

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

E Andreakos, L Abel, DC Vinh, E Kaja, BA Drolet… - Nature …, 2022 - nature.com
SARS-CoV-2 infections display tremendous interindividual variability, ranging from
asymptomatic infections to life-threatening disease. Inborn errors of, and autoantibodies …

Mendelian susceptibility to mycobacterial disease: 2014–2018 update

J Rosain, XF Kong… - Immunology and cell …, 2019 - Wiley Online Library
Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN‐
γ immunity. Since 1996, disease‐causing mutations have been found in 11 genes, which …

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 …

Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities …

V Modell, JS Orange, J Quinn, F Modell - Immunologic research, 2018 - Springer
Primary immunodeficiencies (PI) are genetic defects of the immune system that result in
chronic, serious, and often life-threatening infections, if not diagnosed and treated. Many …

Primary immunodeficiency

C McCusker, J Upton, R Warrington - Allergy, Asthma & Clinical …, 2018 - Springer
Primary immunodeficiency disorder (PID) refers to a large heterogeneous group of disorders
that result from defects in immune system development and/or function. PIDs are broadly …