Genetic/Environmental Contributions and Immune Dysregulation in Children with Atopic Dermatitis

Figures & data

Figure 1 The interplay of genetic and environmental contributors in modulating the immune dysregulation of AD.

Table 1 Potential Genetic Contributors to AD

Skin Barrier
	Epidermal differentiation complex	FLG, FLG2, HRNR, LCE2C, LCE4A, LCE5A, RPTN, S100A3, S100A7, S100A8, S100A16, SPRR3, SPRR4, TCHH, TCHHL1, CLDN1, Tmem79/matt, LELP1
	SP and SP inhibition	SERPINB7, KLK7
	Desmosome component	DSC1
	Epigenetics	KIF3A methylation, PPARδ upregulation, EMSY upregulation
Immune System
	Innate immunity	TLR2, TLR4, TLR9, NOD1, NOD2, DEFβ1, IFNγ, IFNγR, IRF2, SIDT2, RBBP8NL
	Cytokine-related	IL4/4R, IL5, IL7R, IL9, IL10, IL12, IL13, IL18, IL31, TSLP, STAT6
	Antigen receptor signaling	CARD14, LRRC32
	IgE-related	FcεRIβ, ADAMTSL4
	Leukotriene-related	CYSLTR1
	Epigenetics	AHR upregulation, reduced IL13 methylation, reduced AcH3K9 acetylation

Note: Gene names are italicized.

Table 2 Genetic Disorders with AD-Like Lesions and Their Implicated Genes

Hyper-IgE syndrome
	Cytokine-related	STAT3
	Actin polymerization	DOCK8
CARMIL2 deficiency
	Antigen receptor signaling, actin polymerization	CARMIL2
Omenn syndrome
	Antigen receptor signaling	RAG1, RAG2
Netherton syndrome
	SP inhibition	SPINK5
Wiskott-Aldrich syndrome
	Actin polymerization	WAS
ADA-SCID
	Antigen receptor signaling	ADA
IPEX syndrome
	Cytokine-related	FOXP3
CADINS disease
	Antigen receptor signaling	CARD11
Congenital disorders of glycosylation
	Cellular metabolism	PGM3
Prolidase deficiency
	Collagen metabolism	PEPD
SAM syndrome
	Desmosome components	DSG1, DSP
GHI syndrome with immunodeficiency
	Cytokine-related	STAT5B
Novel autosomal dominant allergic disorder
	Cytokine-related	STAT6

Note: Gene names are italicized.

Table 3 Potential Environmental Contributors to AD

Microbes
	Bacteria	S. aureus
	Viruses	Herpes simplex virus, molluscum contagiosum virus, coxsackie virus, vaccinia virus
	Fungi	Malassezia spp.
Aeroallergens
	Indoor allergens	House dust mite, pet dander, fur, cockroach, mold
	Outdoor allergens	Tree pollens, grass pollens, weed pollens
Air Pollution
	Particulate matter	PM2.5, PM10
	Gaseous pollutants	Sulfur dioxide, nitrogen dioxide, carbon monoxide
Climate
	Humidity	Low or very high humidity
	UV index	Low UV index
	Temperature	Low or very high temperature, high indoor heating days
	Precipitation	High precipitation
Food
	Rare occurrence	Cow’s milk, hen’s egg
	Birch pollen-related	Apple, carrot, celery, hazelnut

Note: Bacterial and fungal genera and species are italicized.