Hyper Ige Recurrent Infection Syndrome 1

Alias:
Job Syndrome
Hyperimmunoglobulin E Syndrome
Hyper-Ige Recurrent Infection Syndrome 1
Recurring Cold Staphylococcal Abscesses
Hie - [hyperimmunoglobulin E] Syndrome
Job-Buckley Syndrome
Quie-Hill Syndrome
Buckley Syndrome
Job's Syndrome
Ige Syndromes
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyper Ige Recurrent Infection Syndrome 1, also known as job syndrome, is related to combined immunodeficiency due to dock8 deficiency and trichosporonosis. An important gene associated with Hyper Ige Recurrent Infection Syndrome 1 is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Infectious disease and Innate Immune System. The drugs Posaconazole and Cytochrome P-450 Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and lung, and related phenotypes are homeostasis/metabolism and growth/size/body region
Related ID:
MESH:D007589
ICD11:223461798

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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19
252
68

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

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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
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IF
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