[Recent advances in the pathogenesis of hyper IgE syndrome].
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.
Takada
Hidetoshi
H
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Japan.
Minegishi
Yoshiyuki
Y
D006801:Humans; D007589:Job Syndrome / Q000235:genetics*; D013203:Staphylococcal Infections