Immunodeficiency 35 (IMD35)

Alias:
Tyrosine Kinase 2 Deficiency
Tyk2 Deficiency
Imd35
Autosomal Recessive Hyper-Ige Syndrome with Atypical Mycobacteriosis
Susceptibility to Infection Due to Tyk2 Deficiency
Hyper-Ige Syndrome with Atypical Mycobacteriosis, Autosomal Recessive
Hies with Atypical Mycobacteriosis, Autosomal Recessive
Autosomal Recessive Hies with Atypical Mycobacteriosis
Autosomal Recessiv Hies with Atypical Mycobacteriosis
I Mmunodeficiency, Type 35
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 35, also known as tyrosine kinase 2 deficiency, is related to combined immunodeficiency due to dock8 deficiency and viral encephalitis. An important gene associated with Immunodeficiency 35 is TYK2 (Tyrosine Kinase 2), and among its related pathways/superpathways are Innate Immune System and Infectious disease. Affiliated tissues include skin and lung, and related phenotypes are recurrent respiratory infections and immunodeficiency
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
16
222
13

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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