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 …

[HTML][HTML] Expert perspectives on management of moderate-to-severe atopic dermatitis: a multidisciplinary consensus addressing current and emerging therapies

M Boguniewicz, AF Alexis, LA Beck, J Block… - The Journal of Allergy …, 2017 - Elsevier
Atopic dermatitis (AD) is a common, chronic, relapsing, inflammatory skin disease that
affects children and adults. Until recently, the only Food and Drug Administration–approved …

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

M Sharma, D Leung, M Momenilandi… - Journal of Experimental …, 2023 - rupress.org
STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a
central role in the pathophysiology of allergic inflammation. We have identified 16 patients …

[HTML][HTML] Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity

G Sogkas, F Atschekzei, IR Adriawan… - Cellular & Molecular …, 2021 - nature.com
In addition to susceptibility to infections, conventional primary immunodeficiency disorders
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …

Autoimmunity and primary immunodeficiency: two sides of the same coin?

RE Schmidt, B Grimbacher, T Witte - Nature Reviews Rheumatology, 2018 - nature.com
Autoimmunity and immunodeficiency were previously considered to be mutually exclusive
conditions; however, increased understanding of the complex immune regulatory and …

Inherited CARD9 deficiency: invasive disease caused by ascomycete fungi in previously healthy children and adults

E Corvilain, JL Casanova, A Puel - Journal of clinical immunology, 2018 - Springer
Autosomal recessive CARD9 deficiency underlies life-threatening, invasive fungal infections
in otherwise healthy individuals normally resistant to other infectious agents. In less than 10 …

[HTML][HTML] Prevalence and clinical features of inflammatory bowel diseases associated with monogenic variants, identified by whole-exome sequencing in 1000 children …

E Crowley, N Warner, J Pan, S Khalouei, A Elkadri… - Gastroenterology, 2020 - Elsevier
Background & Aims A proportion of infants and young children with inflammatory bowel
diseases (IBDs) have subtypes associated with a single gene variant (monogenic IBD). We …

DOCK family proteins: key players in immune surveillance mechanisms

K Kunimura, T Uruno, Y Fukui - International immunology, 2020 - academic.oup.com
Dedicator of cytokinesis (DOCK) proteins constitute a family of evolutionarily conserved
guanine nucleotide exchange factors (GEFs) for the Rho family of GTPases. Although DOCK …

[HTML][HTML] Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency

H Abolhassani, A Aghamohammadi, M Fang… - Genetics in …, 2019 - Elsevier
Purpose The etiology of 80% of patients with primary antibody deficiency (PAD), the second
most common type of human immune system disorder after human immunodeficiency virus …

[HTML][HTML] Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

DL Duffy, G Zhu, X Li, M Sanna, MM Iles… - Nature …, 2018 - nature.com
The total number of acquired melanocytic nevi on the skin is strongly correlated with
melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia …