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Immunodeficiency 35 (MONDO:0012682)

Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.

Overview

Category

Ontology ID

Internal:13722

Synonyms

HIES with atypical Mycobacteriosis, autosomal recessive

IMD35

TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency

TYK2 deficiency

autosomal recessive hyper-IgE syndrome due to TYK2 deficiency

autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2

hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive

immunodeficiency 35

immunodeficiency type 35

susceptibility to infection due to TYK2 deficiency

tyrosine kinase 2 deficiency

Mapped terms

DOID:0111989

GARD:0017514

MEDGEN:409751

MESH:C566928

OMIM:611521

Orphanet:331226

UMLS:C1969086

Child terms

Unknown children.