Details of Disease | DrugMAP

General Information of Disease (ID: DIS7LW0D)

Disease Name	Immunodeficiency 35
Synonyms	IMD35; immunodeficiency type 35; TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency; HIES with atypical Mycobacteriosis, autosomal recessive; immunodeficiency 35; hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive; tyrosine kinase 2 deficiency; autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2; TYK2 deficiency; susceptibility to infection due to TYK2 deficiency; autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Definition	Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.\|OMIM has the synonym hyper-IgE syndrome with atypical mycobacteriosis, autosomal recessive but the clinical description does not suggest that this is a type of hyper-IgE syndrome. Some patients presented with hyper-IgE syndrome, whereas one had mildly increased serum IgE.
Disease Hierarchy	DISIYKJL: Hereditary predisposition to infections DIS7LW0D: Immunodeficiency 35
Disease Identifiers	MONDO ID MONDO_0012682 MESH ID C566928 UMLS CUI C1969086 OMIM ID 611521 MedGen ID 409751 Orphanet ID 331226 SNOMED CT ID 1197415001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TYK2	OTHEOTA8	Strong	Autosomal recessive	[1]
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This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TYK2	TTBYWP2	Strong	Autosomal recessive	[1]
TYK2	TTBYWP2	Strong	Biomarker	[2]
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References

1	Partial impairment of cytokine responses in Tyk2-deficient mice. Immunity. 2000 Oct;13(4):549-60. doi: 10.1016/s1074-7613(00)00054-6.
2	Tyrosine kinase 2 is not limiting human antiviral type III interferon responses.Eur J Immunol. 2016 Nov;46(11):2639-2649. doi: 10.1002/eji.201646519. Epub 2016 Oct 5.