Invited review article
Endotypes of allergic diseases and asthma: An important step in building blocks for the future of precision medicine

https://doi.org/10.1016/j.alit.2016.04.011Get rights and content
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Abstract

Discoveries from basic science research in the last decade have brought significant progress in knowledge of pathophysiologic processes of allergic diseases, with a compelling impact on understanding of the natural history, risk prediction, treatment selection or mechanism-specific prevention strategies. The view of the pathophysiology of allergic diseases developed from a mechanistic approach, with a focus on symptoms and organ function, to the recognition of a complex network of immunological pathways. Several subtypes of inflammation and complex immune-regulatory networks and the reasons for their failure are now described, that open the way for the development of new diagnostic tools and innovative targeted-treatments. An endotype is a subtype of a disease condition, which is defined by a distinct pathophysiological mechanism, whereas a disease phenotype defines any observable characteristic of a disease without any implication of a mechanism. Another key word linked to disease endotyping is biomarker that is measured and evaluated to examine any biological or pathogenic processes, including response to a therapeutic intervention. These three keywords will be discussed more and more in the future with the upcoming efforts to revolutionize patient care in the direction of precision medicine and precision health. The understanding of disease endotypes based on pathophysiological principles and their validation across clinically meaningful outcomes in asthma, allergic rhinitis, chronic rhinosinusitis, atopic dermatitis and food allergy will be crucial for the success of precision medicine as a new approach to patient management.

Keywords

Allergic diseases
Asthma
Biomarkers
Endotypes
Precision medicine

Abbreviations

AD
atopic dermatitis
AHR
airway hyperreactivity
AR
allergic rhinitis
BAL
bronchoalveolar lavage
Bcl-2
B-cell lymphoma 2 protein
BNA
Bayesian Network Analysis
CCL
CC chemokine ligand
CGBN
Conditional Gaussian Bayesian Network
CD
cluster of differentiation
CLP
chitinase-like proteins
COPD
chronic obstructive lung disease
CpG
5′—Cytosine—phosphate—Guanine—3′
CRS
chronic rhinosinusitis
CRTH2
chemokine receptor homologous molecule expressed on Th2 lymphocytes
CXCL
CXC chemokine ligand
CXCR2
CXC chemokine receptor 2
eNO
exhaled nitric oxide
FA
food allergy
FDA
Food and Drug Administration
Gal
galectin
GATA
gamma-amino-n-butyrate transaminase
G-CSF
granulocyte colony-stimulating factor
GM-CSF
granulocyte-macrophage colony-stimulating factor
ICAM
intercellular adhesion molecule
Ig
immunoglobulin
IL
interleukin
ILC
innate lymphoid cell
IFN
interferon
LCA
latent class analysis
LIGHT
tumor necrosis factor superfamily member 14
MAIT
mucosal associated invariant T cell
MARS
multivariate regression splines
MAP-kinase
mitogen-activated protein kinases
MMP
matrix metalloproteinase
MUC
mucin
NF
nerve fibers
NGF
nerve growth factor
NK
natural killer
NNCS
non-neuronal cholinergic system
NP
nasal polyps
ORA
over-representation analyses
PGE2
prostaglandin E2
PGP
proline-glycine-proline
PPIN
protein–protein interaction network
RAR
retinoic acid receptor
ROC
receiver operating characteristic curves
RUNX
Runt-related transcription factor X
S1P
sphingosine 1-phosphate
SCORAD
scoring atopic dermatitis
SNP
single-nucleotide polymorphism
SR
steroid resistant
SS
steroid sensitive
TDA
topological data analysis
TGF
transforming growth factor
Th
T helper
TNF
tumor necrosis factor
Treg
T regulatory cell
TSLP
thymic stromal lymphopoietin
VCAM
vascular endothelial cellular adhesion molecule
YKL-40
chitinase-3-like protein 1

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Peer review under responsibility of Japanese Society of Allergology.