Pediatric hyperimmunoglobulin E syndrome

Introduction to pediatric hyperimmune globulin 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. The main features are: 1 chronic eczema dermatitis; 2 repeated serious infection; 3 serum IgE significantly increased. basic knowledge The proportion of illness: 0.04%-0.05% Susceptible people: infants and young children Mode of infection: non-infectious Complications: bullae, empyema, bronchiectasis, herpes zoster, osteoporosis

The cause of high immunoglobulin E syndrome in children

(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.

Pediatric high immunoglobulin E syndrome prevention

Pregnant woman 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 develop viral infections (especially rubella virus infections), they can damage the fetal immune system. Especially in the early pregnancy, it can affect multiple systems including the immune system. Therefore, it is very important to strengthen the health care of pregnant women, especially in the early pregnancy. Pregnant women should avoid receiving radiation, use some chemical drugs with caution, and inject rubella vaccine to prevent as much as possible. Virus infection, but also to strengthen the nutrition of pregnant women, timely treatment of some chronic diseases.

2. Genetic counseling and family survey

Although most diseases cannot determine the genetic pattern, genetic counseling for diseases with defined genetic patterns is valuable if genetically immunodeficiency in adults will provide the developmental risk of their children; if a child has autosomals Recessive genetic or sexually linked immunodeficiency disease, it is necessary to tell parents that their next child is likely to be sick, for patients with antibodies or complement deficiency patients should check the antibody and complement levels to determine the family disease For some diseases that can be genetically mapped, such as chronic granulomatosis, parents, siblings and their children should be genetically tested. If a patient is found, it should also be performed among his or her family members. Check that the child's child should be carefully observed at the beginning of the birth for any disease.

3. Prenatal diagnosis

Some immunodeficiency diseases can be prenatally diagnosed, such as cultured amniotic fluid cell enzymology can diagnose adenosine deaminase deficiency, nucleoside phosphorylase deficiency and some combined immunodeficiency diseases; fetal blood cell immunological test can be Diagnosis of 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 have a family history, due to men and women It can be ill and not every patient, so this disease may be an incompletely explicit autosomal hereditary disease, early accurate diagnosis, early specific treatment and genetic counseling (prenatal diagnosis or even intrauterine treatment) important.

Pediatric hyperimmune globulin E syndrome complications Complications, bullous empyema, bronchiectasis, herpes zoster, osteoporosis

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.

Pediatric hyperimmune globulin E syndrome symptoms common symptoms papules itching erythrocyte sedimentation increased herpes osteoporosis empyema lung infection

The onset of this disease is more than 1 to 8 weeks after birth. Both men and women can develop the disease, but it is more common in Caucasian girls, especially those with fair skin and red hair.

Skin performance

Chronic eczema-like dermatitis, but the distribution and nature are not like atopic eczema. It is the first symptom that occurs soon after birth. It is a papular or papular blister rash with clear boundaries and itching. The lesions are distributed on the head and face, behind the ears. The body stretches its side, its severity has nothing to do with the season, its rash, especially the rash around the ear can not retreat for life, skin biopsy can be seen in the epidermis with a large number of eosinophilic infiltration with epidermal herpes.

2. Infection characteristics

All children have a history of repeated serious infections, often occurring within 3 months after birth, repeated Staphylococcus aureus infection on the first day after birth, common skin cold abscess, recurrent pneumonia, bronchitis, Common bacteria Staphylococcus aureus and serobacteria, may have pulmonary bullae, empyema, bronchiectasis and other complications, in addition to common infections are otitis media, chronic sinusitis, septic arthritis, osteomyelitis, also Non-bacterial infections such as Candida albicans, Pneumocystis carinii infection, herpes zoster, herpes zoster, herpetic keratoconjunctivitis and the like can be seen.

3. Other performance

Have a special face, cranial suture early closure, deciduous teeth do not fall off the characteristics of this disease, 72% of high immunoglobulin E syndrome can retain deciduous teeth at 8 years old, permanent teeth are not erupted or deciduous teeth and permanent teeth coexist, forming a double row Teeth, 70% to 90% of children have rough face, wide nose, nose and cheek and jaw ratio is not called (half side hypertrophy), may have growth retardation, osteoporosis, repeated fractures, nail atrophy, joints Excessive stretching, red hair, enlarged pores, increased erythrocyte sedimentation rate, etc.

Examination of children with 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. High-level anti-S. aureus-specific IgE can be detected in the antibody reaction serum; 21 cases of high immunoglobulin E syndrome diphtheria and tetanus antibody response have been reported; Haemophilus influenzae capsular polysaccharide antigen The 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 present In vitro, it lacks lymphocyte proliferative response to soluble antigens and alloantigens.

4. Some cases of neutrophil and monocyte chemotactic defects are associated with low neutrophil chemotaxis, but repeated detection of chemotactic function, sometimes low and normal, chemotactic function may be associated with inflammatory cells to reach the infected site Delayed formation of cold abscesses.

5. Cellular immunity Most lymphocytes proliferate normally, but some cases have low proliferative responses to Candida, streptokinase-chain enzymes, and tetanus toxoid; mixed lymphocyte cultures lack proliferative response, CD45RO T cells decrease, T cells The ability to produce IL-4 may be normal, while those with allergies increase IL-4; a significant decrease in IFN- production may be responsible for high IgE and eosinophilia.

X-ray examination, B-ultrasound examination, EEG examination, etc. are often required.

Diagnosis and identification of high immunoglobulin E syndrome in children

diagnosis

The diagnostic criteria for this symptom:

1. Clinical features Repeated chronic eczema-like dermatitis after birth, repeated skin cold abscess, repeated severe lung infection.

2. Laboratory examination of 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, eosinophils Absolute and relative counts (ratio) increase.

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.

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