Details of Disease

General Information of Disease (ID: DISOSTA1)

• Disease Name: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
• Synonyms: hyper-IgE recurrent infection syndrome; hyperimmunoglobulin E-recurrent infection syndrome; autosomal dominant HIES; Job's syndrome; autosomal dominant hyperimmunoglobulin E syndrome; JOB syndrome; immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist; hyper-IgE syndrome, autosomal dominant; HIES, autosomal dominant; hyper Ig E syndrome, autosomal dominant; hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant; HIES autosomal dominant; Job syndrome autosomal dominant; autosomal dominant hyper-IgE syndrome; Buckley syndrome; hyper-IgE recurrent infection syndrome, autosomal dominant; STAT3 deficiency; AD-HIES; autosomal dominant hyper IgE syndrome; AD hyperimmunoglobulin E syndrome; hyperimmunoglobulin E syndrome type 1
• Definition: 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.
• Disease Hierarchy:
  DIS6W0DT: Hyper-IgE syndrome
  DIS3HIWD: Autosomal dominant disease
  DISOSTA1: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
• Disease Identifiers:
  MONDO ID: MONDO_0007818
  UMLS CUI: C4721531
  OMIM ID: 147060
  MedGen ID: 1648470
  Orphanet ID: 2314

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
STAT3	TTHJT3X	Strong	CausalMutation	[1]
STAT3	TTH8FZW	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PGM3	DER0EN5	Strong	Genetic Variation	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
STAT3	OTAAGKYZ	Definitive	Autosomal dominant	[2]

References

• [1] STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome.Front Immunol. 2018 May 17;9:1080. doi: 10.3389/fimmu.2018.01080. eCollection 2018.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [3] Hyper-IgE in the allergy clinic--when is it primary immunodeficiency?.Allergy. 2018 Nov;73(11):2122-2136. doi: 10.1111/all.13578. Epub 2018 Oct 2.