Type	Entity	Source evidence	Confidence	Extractor
gene	TYK2	“Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.”	0.98	hgnc_dict_v1
phenotype	atopic dermatitis	“Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, and staphylococcal abscesses.”	0.98	phenotype_alias_lexicon_v2
phenotype	inflammatory bowel disease	“All eight TYK2-deficient patients displayed impaired but not abolished cellular responses to (a) IL-12 and IFN-α/β, accounting for mycobacterial and viral infections, respectively; (b) IL-23, with normal proportions of circulating IL-17(+) T cells, accounting for their apparent lack of mucocutaneous candidiasis; and (c) IL-10, with no overt clinical consequences, including a lack of inflammatory bowel disease.”	0.98	phenotype_alias_lexicon_v2

PMID 22968740 | DOI 10.1007/s10875-012-9769-x · Journal of clinical immunology · 2013 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	TYK2	“Null mutations in DOCK8 and TYK2 are responsible for many cases.”	0.98	hgnc_dict_v1
phenotype	atopic dermatitis	“PURPOSE: Autosomal recessive hyper-IgE syndrome is a rare combined immunodeficiency characterized by susceptibility to viral infections, atopic eczema, high serum IgE and defective T cell activation.”	0.93	phenotype_alias_lexicon_v2
gene	DOCK8	“Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients.”	0.98	hgnc_dict_v1
gene	STAT3	“Seventeen patients screened for STAT3, TYK2 and DOCK8 mutations.”	0.98	hgnc_dict_v1