Hyper-IgE recurrent infection syndrome

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

HIES

Hyperimmunoglobulin E recurrent infection syndrome

HIE syndrome

Job syndrome

Buckley syndrome

Immunoglobulin E, elevated, with neutrophil chemotaxis defect, recurrent infections, and mucocutaneous candidiasis

IgE, elevated, with neutrophil chemotaxis defect, recurrent infections, and mucocutaneous candidiasis

Classification

  • Other well-defined immunodeficiency syndromes

Inheritance

Autosomal dominant/Autosomal recessive

OMIM

%147060 Hyper-IgE syndrome

243700 Job syndrome

Cross references

Phenotypically related immunodeficiencies

IDR factfile for TYK2 deficiency

Phenotypically related immunodeficiencies

IDR factfile for STAT3 deficiency

Incidence

1:1000000