Details of Disease

General Information of Disease (ID: DIS6W0DT)

Disease Name Hyper-IgE syndrome
Synonyms hyper-IgE recurrent infection syndrome; hyperimmunoglobulin E syndrome; HIES
Definition A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.
Disease Hierarchy
DISPHEWJ: Hyperimmunoglobulin syndrome
DIS6W0DT: Hyper-IgE syndrome
Disease Identifiers
MONDO ID
MONDO_0018037
MESH ID
D007589
UMLS CUI
C3887645
MedGen ID
854488
Orphanet ID
331223
SNOMED CT ID
50926003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KLK7 TTE6GTB Strong Genetic Variation [1]
STAT3 TTHJT3X Strong Genetic Variation [2]
STK4 TTCPLVN Strong Genetic Variation [3]
TYK2 TTBYWP2 Strong Genetic Variation [4]
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References

1 Pathogenesis of hyper IgE syndrome.Clin Rev Allergy Immunol. 2010 Feb;38(1):32-8. doi: 10.1007/s12016-009-8134-1.
2 The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long-term follow-up and genetic analysis.Pediatr Allergy Immunol. 2019 Jun;30(4):469-478. doi: 10.1111/pai.13043. Epub 2019 May 15.
3 STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation.Clin Immunol. 2015 Dec;161(2):316-23. doi: 10.1016/j.clim.2015.06.010. Epub 2015 Jun 25.
4 Autosomal-Recessive Hyper-IgE Syndrome.Indian J Dermatol. 2018 Jan-Feb;63(1):79-81. doi: 10.4103/ijd.IJD_445_16.