hyperimmunoglobulin E syndrome
Introduction
Introduction to high immunoglobulin E syndrome High immunoglobulin E syndrome is Job syndrome, also known as Yao dermatitis syndrome, chronic granulomatous disease variant (Branley syndrome), Buckley syndrome. This symptom is a rare disease whose etiology and pathogenesis are still unclear. basic knowledge The proportion of illness: 0.005% Susceptible people: no specific people Mode of infection: non-infectious Complications: bullae, empyema, bronchiectasis, herpes zoster, osteoporosis, fracture
Cause
High immunoglobulin E syndrome
(1) Causes of the disease
The etiology of this disease is unknown, and it is an autosomal dominant inheritance with great variability. It is considered to be a type of congenital immunodeficiency syndrome.
(two) pathogenesis
The immunological abnormalities of the disease are particularly prominent, including elevated eosinophils in blood, sputum and abscess, defects in granulocyte chemotactic function, abnormal T cell subsets, insufficient antibody production, and abnormal cytokine secretion. These immunological changes are non-specific. Other manifestations unrelated to immunology include a special face, excessive joint extension, multiple fractures, and cranial sutures. Therefore, the disease is a multi-system immune-impaired disease.
Some people have done a thorough study on the synthesis and regulation of IgE in this disease, and found that the synthesis of IgE does not depend on the interaction of lymphokines (IL-4, IL-6) and T/B cells, but is differentiated and mature. B cells are not sensitive to regulatory signals, but it has also been suggested that it is not possible to rule out the absolute or relative excess of IL-4 in HIES patients, but it has not been detected yet, and promotes the production of IgE.
Because children lack the ability to produce anti-staphylococcal IgG IgE as a surrogate antibody, a large amount of coverage on the surface of mast cells, activation of allergic reactions in the presence of S. aureus antigen, release of histamine and other bioactive substances paralyzed neutrophil polymorphonuclear leukocytes (PMNC), making it resistant to staphylococci, producing inflammation and rapidly forming abscesses. These manifestations are particularly evident in areas such as mast cells and rich areas. Repeated inflammatory episodes cause connective tissue hyperplasia, especially in the mouth, nose, eyes, etc. This produces a rough face that is unique to children with HIES.
Prevention
High immunoglobulin E syndrome prevention
1. Maternal health care: It is known that the occurrence of some immunodeficiency diseases is closely related to embryonic dysplasia. If pregnant women are exposed to radiation, receive certain chemical treatments or have viral infections (especially rubella virus infection), they may be damaged. The fetal immune system, especially in the first trimester, can involve multiple systems including the immune system. Therefore, it is important to strengthen maternal health care, especially in early pregnancy. Pregnant women should avoid radiation, use some chemical drugs with caution, and inject rubella vaccine. Wait, try to prevent viral infections, but also to strengthen the nutrition of pregnant women, and timely treatment of some chronic diseases.
2. Genetic counseling and family surveys: Although most diseases cannot determine the genetic pattern, it is valuable to conduct genetic counseling for diseases with defined genetic patterns. If adults have hereditary immunodeficiency diseases, they will provide the developmental risks of their children. If a child has an autosomal recessive or sexually linked immunodeficiency disease, tell the parents how likely they are to have the next child, and the immediate family members of the antibody or complement deficiency should check for antibodies and The level of complement determines the family's disease pattern. For some diseases that can be genetically located, such as chronic granulomatosis, the patient's parents, siblings and their children should be tested for localization. If a patient is found, the same should be given to him. The family members of (her) are examined and the child's children should be carefully observed at the beginning of the birth for any disease.
3. Prenatal diagnosis: Some immunodeficiency diseases can be prenatally diagnosed. For example, cultured amniotic fluid cell enzymology can diagnose adenosine deaminase deficiency, nucleoside phosphorylase deficiency and some combined immunodeficiency diseases; Fetal blood cell immunology test can diagnose CGD, X-linked no-gammaglobulinemia, severe combined immunodeficiency disease, thereby stopping pregnancy, preventing the birth of children, high immunoglobulin E syndrome is relatively rare, about 1/3 Family history, because both men and women can be ill and not every patient, this disease may be an incompletely explicit autosomal hereditary disease, early accurate diagnosis, early specific treatment and genetic counseling (prenatal diagnosis) Even intrauterine treatment) is very important.
Complication
High immunoglobulin E syndrome complications Complications, bullous empyema, bronchiectasis, herpes zoster, osteoporotic fracture
Repeated occurrence of various serious infections, may have pulmonary bullous, empyema, bronchiectasis and other complications, Candida albicans, Pneumocystis carinii infection, herpes zoster, herpes zoster, herpetic keratoconjunctivitis, often growth and development Slow, osteoporosis and multiple fractures.
Symptom
High immunoglobulin E syndrome symptoms common symptoms pustule itching scars eczema
More common in infants less than 1 year old, skin lesions similar to atopic dermatitis or chronic eczema, itching severe, easy to secondary staphylococcal infections such as sputum, sputum and recurrent "cold abscess", head can have folliculitis, ear, Head, around the mouth and groin may have pustules, crusting and desquamation, blepharitis may occur in the eyelids, repeated upper respiratory tract infections, pneumonia, empyema and lung abscess.
Examine
Examination of high immunoglobulin E syndrome
Immunological examination: There are a variety of immune abnormalities.
1. Peripheral blood: peripheral blood and local eosinophilia, up to 55% to 60% of the total number of white blood cells.
2. Serum: IgE increased significantly (> 4.8 mg / L, ie > 2000 U / ml) and the level is stable.
3. Antibody reaction: high levels of anti-S. aureus-specific IgE can be detected in serum; 21 cases of high immunoglobulin E syndrome diphtheria, tetanus antibody response is low; Haemophilus influenzae capsular polysaccharide Antigen antibody response is also insufficient, mostly IgG2 subtype defects, lack of delayed hypersensitivity to recall antigens in vivo, high IgE syndrome often associated with increased IgG4 subclasses; anti-IgE IgG antibodies present; IgE-containing immune complexes There is a lack of lymphocyte proliferative response to soluble antigens and alloantigens in vitro.
4. Deficiency of neutrophil and monocyte chemotactic function: Some cases are accompanied by neutrophil chemotaxis, but repeated detection of chemotactic function, sometimes low and normal, chemotactic dysfunction may lead to infection with inflammatory cells The site is delayed and forms a cold abscess.
5. Cellular immunity: Most lymphocytes proliferate normally, but in some cases, the proliferative response to Candida, streptokinase-chain enzyme, and tetanus toxoid is low; the proliferation of mixed lymphocyte culture is lacking, and the number of CD45RO T cells is decreased. The ability of cells to produce IL-4 may be normal, while those with allergies increase IL-4; a significant decrease in IFN- production may be the cause of high IgE and eosinophilia.
X-ray examination, B-ultrasound examination, EEG examination, etc. are often required.
Diagnosis
Diagnosis and identification of high immunoglobulin E syndrome
Diagnostic criteria:
1. Clinical features: Repeated chronic eczema-like dermatitis after birth, repeated skin cold abscess, repeated severe lung infection.
2. Laboratory examination: serum IgE increased significantly, more than 10 times the normal value (>4.84g / L, or >2000U / ml), serum anti-S. aureus IgE and anti-C. albicans IgE positive, acidophilic The absolute and relative counts (ratio) of the cells increased.
Anyone with the above clinical manifestations should consider the possibility of this disease, serum polyclonal IgE and eosinophilia are the most powerful laboratory basis for high immunoglobulin E syndrome, but elevated serum IgE is also seen in atopic (atopic )dermatitis.
Differential diagnosis
The identification of high immunoglobulin E syndrome and atopic dermatitis is severe recurrent staphylococcal abscess and pneumonia.
Some primary immunodeficiency diseases are also associated with increased serum IgE, such as thymic dysplasia, eczema thrombocytopenia with immunodeficiency syndrome (WAS), and some severe combined immunodeficiency diseases (such as Omenn syndrome and the so-called Nezelof syndrome). Chronic granulomatosis and selective IgA deficiency should be identified. In addition, the relationship between high IgE syndrome and Job syndrome is unclear and should be differentiated.
