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Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant (MONDO:0007818)

A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.

Overview

Category

immune system disorder

hematologic disorder

Ontology ID

MONDO:0007818

Internal:9158

Synonyms

hyper-IgE recurrent infection syndrome

hyperimmunoglobulin E-recurrent infection syndrome

AD hyperimmunoglobulin E syndrome

AD-HIES

Buckley syndrome

HIES autosomal dominant

HIES, autosomal dominant

JOB syndrome

Job syndrome autosomal dominant

Job's syndrome

STAT3 deficiency

autosomal dominant HIES

autosomal dominant hyper IgE syndrome

autosomal dominant hyper-IgE syndrome

autosomal dominant hyperimmunoglobulin E syndrome

hyper Ig E syndrome, autosomal dominant

hyper-IgE recurrent infection syndrome, autosomal dominant

hyper-IgE syndrome, autosomal dominant

hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant

hyperimmunoglobulin E syndrome type 1

immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist

Mapped terms

DOID:3261

GARD:0006800

MEDGEN:445391

MESH:C564135

MESH:C567925

NCIT:C126342

OMIM:146840

OMIM:147060

Orphanet:2314

SCTID:50926003

UMLS:C2936739

Child terms

Unknown children.

Results

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