Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0700208 (
scoliosis
)
8,574
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Hyperimmunoglobulin-E syndrome (HIES) is one of the primary immunodeficiency with the manifestations of recurrent infections especially with Staphylococcus aureus, characteristic facies, hyperextensibility of joints, multiple bone fractures,
scoliosis
, and delayed shedding of the primary teeth. It is a multisystem disease of autosomal dominant or recessive inheritance. Recently, the genetic causes of HIES (STAT3,
TYK2
, and DOCK8) were clarified.
...
PMID:[Recent advances in the pathogenesis of hyper IgE syndrome]. 2019 May 5
