OVERVIEW
Hyperimmunoglobulin E syndrome (HIES), or Job syndrome, is also known as Yao dermatitis syndrome, chronic granulomatous disease variant, and Buckley syndrome. This syndrome is a rare disease whose etiology and pathogenesis are still unclear. The main features are: ① chronic eczematous dermatitis; ② recurrent severe infections; ③ markedly increased serum IgE.
Etiology
The disease is autosomal dominant, with great variability, and is considered to be a subtype of congenital immunodeficiency syndrome.
Symptoms
Most commonly seen in infants less than 1 year of age. The lesions resemble atopic dermatitis or chronic eczema, with severe itching and a tendency to secondary staphylococcal infections such as boils, carbuncles and recurrent “cold abscesses”. There may be folliculitis on the head, pustules, crusts and flakes around the ears, head, mouth and groin, and blepharitis on the eyelids. Recurrent upper respiratory tract infections, pneumonia, pyothorax and lung abscesses occur.
Examination
Immunologic examination: there may be various manifestations of immune abnormalities.
1. Peripheral blood
Peripheral blood and localized eosinophilia, which can be as high as 55%～60% of the total number of leukocytes.
2. Serum IgE
Significantly increased (>4.8mg/l, i.e. >2000U/ml) and stable levels.
3. Antibody reaction
A high level of anti-Staphylococcus aureus specific IgE can be detected in the serum.
4. Neutrophils and monocytes
In some cases, neutrophil chemotaxis is low, but repeated chemotaxis tests show that chemotaxis is sometimes low and sometimes normal. Low chemotaxis may be related to the delay of inflammatory cells to reach the site of infection and the formation of cold abscesses.
5. Cellular immunity
Most lymphocytes have normal proliferative function, but in some cases the proliferative response to Candida, streptokinase-streptokinase, and tetanus toxoid is low; the proliferative response to mixed lymphocyte cultures is lacking; the number of T-cells is reduced; T-cells may be normal in their ability to produce interleukin 4 (IL-4), whereas in those with allergy, IL-4 is increased; and production of gamma-interferon (IFN-gamma) is markedly decreased, which may be the cause of hyper-IgEmia. be the cause of hyperIgEmia and eosinophilia. X-rays, ultrasound, and electroencephalography are often needed.
Diagnosis
1. Clinical features
Recurrent chronic eczema-like dermatitis, recurrent cold skin abscesses, and recurrent severe lung infections occur.
2.Laboratory examination
Serum IgE is markedly elevated, more than 10 times the normal value. The serum is positive for anti-Staphylococcus aureus IgE and anti-Candida albicans IgE. Increased absolute and relative eosinophil counts (ratios).
Anyone with the above clinical manifestations should consider the possibility of hyperimmunoglobulin E syndrome. Increased serum polyclonal IgE and eosinophilia are the strongest laboratory evidence of hyperimmunoglobulin E syndrome, but increased serum IgE is also seen in atopic dermatitis.
Treatment
1. General therapy
(1) Strengthen nursing care and nutrition to improve patients’ resistance and immunity.
(2) Prevent infection, isolation should be paid attention to, minimize the contact with pathogens.
2. Anti-infection therapy
Due to the phagocytes themselves and the defective phagocytosis, the body is unable to kill the infected bacteria. Therefore, once infection occurs, broad-spectrum bactericidal antibiotics should be selected for the pathogenic bacteria for treatment. Sulfamethoxazole/metronidazole is effective in controlling the infection of chronic granulomatous disease.
3. Immune replacement therapy
(1) Infusion of granulocytes In response to the defective phagocytosis and bactericidal function of granulocytes, granulocytes can be infused to play a temporary replacement role. Especially the leukocyte suspension obtained by cell separator contains more granulocytes and can be used clinically.
(2) Transfusion of fresh whole blood Congenital defects in the conditioning system can cause some recurrent infections, which can be corrected by the application of fresh plasma. For cases of serious infection, conditioning protein can be input, which can achieve the purpose of infection control by strengthening the conditioning effect on germs and promoting the recognition, phagocytosis and clearance of germs by the organism.
(3) Adiponectin (interleukin-2)
(4) Bone marrow transplantation as the fundamental therapy.