Genes associated with severe eczema

Gene abbreviation	Full gene name	Inheritance	Disorder name/phenotype*
ADAM17	ADAM metallopeptidase domain 17	AR	Neonatal inflammatory skin and bowel disease 1
CARD11	Caspase recruitment domain family member 11	AD	Immunodeficiency 11B with atopic dermatitis
DOCK8	Dedicator of cytokinesis 8	AR	Hyper-IgE recurrent infection syndrome 2
ERBB2IP	Erbin	AD	ERBIN deficiency
FOXP3	Forkhead box P3	XLR	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome
IL2RB	Interleukin 2 receptor beta	AR	Immunodeficiency 63 with lymphoproliferative and autoimmunity
IL6R	Interleukin 6 receptor	AR	Hyper-IgE recurrent infection syndrome 5
IL6ST	Interleukin 6 signal transducer	AD, AR	Hyper-IgE recurrent infection syndrome 4
MALT1	MALT1 paracaspase	AR	Immunodeficiency 12
SPINK5	Serine peptidase inhibitor, Kazal type 5	AR	Netherton syndrome/ichthyosiform erythroderma with hypotrichosis and hyper-IgE
STAT3	Signal transducer and activator of transcription 3	AD	Hyper-IgE recurrent infection syndrome 1
STAT5B	Signal transducer and activator of transcription 5B	AD	STAT5B gain of function
WAS	Wiskott-Aldrich syndrome	XLR	Wiskott-Aldrich syndrome (WAS)/eczema, thrombocytopenia, and immunodeficiency
ZNF341	Zinc finger protein 341	AR	Hyper-IgE recurrent infection syndrome 3

Clinical signs may be present that warrant evaluation for the presence of primary immunodeficiency. Please note that the above table is not comprehensive.

AR: autosomal recessive; AD: autosomal dominant; IgE: immunoglobulin E; XLR: X-linked recessive; OMIM: Online Mendelian Inheritance in Man.
* The phenotypic descriptions were derived from OMIM phenotype labels.

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Genes associated with severe eczema