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Do you know? What amazing immune abnormalities are hidden behind IgE concentrations as high as 2000 IU/mL?
Hyperimmunoglobulinemia E syndrome (HIES), especially its autologous form, Job's syndrome or Buckley syndrome, is a heterogeneous Immune disease, there are currently about 300 cases of this disease reported in the literature.
HIES is characterized by recurring "cold" Staphylococcus aureus infections, an unusual eczema-like rash on the skin, and air cysts (expanded lesions that may be filled with air, pus, or scar tissue), and extremely high IgE concentrations in serum (>2000 IU/mL or 4800 mcg/L).
Pathophysiology
The pathogenesis of HIES is mainly due to abnormal neutrophil chemotaxis, which is due to insufficient interferon gamma production by T lymphocytes. The disease can be inherited in an auto-dominant or auto-recessive manner. Autologous inherited STAT3 abnormalities are often accompanied by obvious facial and dental deformities. Patients often face the problem of being unable to lose their deciduous teeth normally, and even have two sets of teeth at the same time.
A mnemonic often used to remember symptoms is FATED: rough or leonine appearance, cold Staphylococcus aureus abscesses, retained primary teeth, increased IgE levels, and skin problems such as eczema.
Diagnosis
The diagnosis of HIES is based on elevated IgE concentration as the main indicator. Usually IgE levels exceeding 2000 IU/mL are considered diagnostic criteria. However, patients younger than six months of age may develop extremely low or barely detectable IgE levels. Eosinophilia is also a common finding, with more than 90% of patients having individual eosinophil counts two standard deviations above the normal mean.
Type
HIES typically presents early in life with recurring Staphylococcus aureus and Candida infections, pneumonia, and eczema-like skin symptoms. Autologous hyper-IgE syndrome (Job Syndrome) caused by STAT3 deficiency is characterized by characteristic facial, dental, and skeletal abnormalities. By the age of 16, these patients' characteristic facial features have been basically established.
These features usually include facial asymmetry, a prominent forehead, deep eye sockets, a wide bridge of the nose, a broad and fleshy nose tip, and a mildly protruding mandible. In addition, some patients may develop scoliosis and fractures.
Treatment
Most patients affected by HIES receive long-term antibiotic treatment to prevent Staphylococcus aureus infection. Excellent skin care is also very important for these patients. In addition, high-dose intravenous immune globulin has been proposed for the treatment of patients with severe eczema and atopic dermatitis.
Historical background
Hyperimmunoglobulin E syndrome was first described by Davis et al. in 1966 in two red-haired girls who presented with chronic dermatitis and recurrent Staphylococcus aureus abscesses and pneumonia. In 1972, Buckley et al described two male patients with similar symptoms and a rough facial appearance, eosinophilia, and elevated serum IgE levels. The two symptoms are considered the same and are grouped together under the broad category of hyperimmune globulin E syndrome.
Conclusion
As the understanding of hyperimmune globulin E syndrome deepens, researchers have gradually turned their focus to how to improve the quality of life of these patients. From the perspective of the immune system, what other urgent problems are hidden behind such anomalies?
