STAT3 deficiency

Hyper IgE syndrome is a rare complex disorder characterised by markedly elevated serum IgE levels (>2000IU/ml), chronic dermatitis and serious recurrent infections, pneumonia with pneumatocele formation, recurring staphylococcal skin abcesses. There may be IgG subclass and specific antibody deficiencies, with poor/absent immunization responses. Also have been reported variable abnormalities of neutrophil function, affecting chemotaxis, phagocytosis, and microbicidal activity. There is an imbalance of cytokine production due to Th2 predominance (IL-4, IL-5). Most cases are sporadic, but both autosomal recessive forms (AR-HIES) and autosomal dominant forms of HIES (AD-HIES) have been described. AR-HIES forms are characterized by severe recurrent viral infections, extreme eosinophilia, neurological complications, but without skeletal or dental abnormalities. AD-HIES are associated with skeletal symptoms such as hyperextensibility of joints, scoliosis, osteoporosis, and retained primary teeth.

Alternative names

AD-HIES, Job syndrome


  • Other well-defined immunodeficiency syndromes


Autosomal dominant, many de novo mutations


*102582 Signal transducer and activator of transcription 3; STAT3

%147060 Hyper-IgE syndrome

243700 Job syndrome

Cross references

Phenotypically related immunodeficiencies

IDR factfile for Hyper-IgE recurrent infection syndrome

IDR factfile for TYK2 deficiency