Hyper-Ige Syndrome 1, Autosomal Dominant, with Recurrent Infections (HIES1)

Alias:

Job Syndrome

Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant

Buckley Syndrome

Autosomal Dominant Hyper-Ige Syndrome

Hyperimmunoglobulin E Syndrome Type 1

Autosomal Dominant Hies

Stat3 Deficiency

Ad-Hies

Hyperimmunoglobulin E-Recurrent Infection Syndrome

Autosomal Dominant Hyperimmunoglobulin E Syndrome

Hies1

Autosomal Dominant Hyperimmunoglobulin E Recurrent Infection Syndrome

Autosomal Dominant Hyper-Ige Recurrent Infection Syndrome

Hyper-Ige Recurrent Infection Syndrome Autosomal Dominant

Hyper-Ige Syndrome, Autosomal Dominant

Hyper-Ige Recurrent Infection Syndrome

Hyper-Ige Syndrome Autosomal Dominant

Stat3-Deficient Hyper Ige Syndrome

Autosomal Dominant Job Syndrome

Hies, Autosomal Dominant

Hies Autosomal Dominant

Job-Buckley Syndrome

Job's Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hyper-Ige Syndrome 1, Autosomal Dominant, with Recurrent Infections, also known as job syndrome, is related to hyper ige syndrome and dermatitis. An important gene associated with Hyper-Ige Syndrome 1, Autosomal Dominant, with Recurrent Infections is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and Translation Insulin regulation of translation. The drugs Posaconazole and Cytochrome P-450 Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are generalized abnormality of skin and recurrent respiratory infections

Related ID：

MALACARDS：HYP911

OMIM：147060

MESH：D007589