congenital agamma-globulinemia
Introduction
Introduction to congenital no gamma-globulinemia Due to the lack of B lymphocytes in the body, or the abnormal function of B cells, they cannot differentiate into mature plasma cells after being stimulated by antigen, or the synthesized antibodies can not be excreted outside the cells, resulting in the lack of immunoglobulin in serum and causing such diseases. Defects in different stages of cell differentiation and maturation, the reduction of serum immunoglobulins in one class, several classes or subclasses, and the low performance of antibody production. Even if serum immunoglobulin levels are normal or elevated, cases with severe clinical manifestations should be Highly suspected barriers to antibody production. Congenital X-linkedagammaglobulinemia (also known as Bruton-type agammaglobulinemia) is a primary fluid deficiency disease. basic knowledge Sickness ratio: 0.001%-0.002% Susceptible people: young children Mode of infection: non-infectious Complications: Arthritis Dermatomyositis Meningitis
Cause
Congenital dysfunction of -globulinemia
Cause:
The disease is due to the X chromosome association.
Pathogenesis:
The non-thymus-dependent region of peripheral lymphoid tissue is underdeveloped. The process of differentiation of lymphoid stem cells into pre-B cells is blocked, and plasma cells cannot be formed, so that -globulin cannot be produced, that is, it cannot synthesize immunoglobulin by itself. The disease gene is located in Xq21. .3~Xq22.6, which is encoded by B cell tyrosine kinase (btk). The btk gene is expressed in the early stage of B cell development and is not expressed in T cells and plasma cells. It may be necessary for B cell maturation, and some of its parts are Mutations have been identified.
Prevention
Congenital non-gamma-globulinemia prevention
Prevention of infection: attention should be paid to isolation to minimize contact with pathogens.
Complication
Congenital dysfunction of gamma-globulinemia Complications arthritis dermatomyositis meningitis
Most of the combined arthritis, especially arthritis, can be caused by Echo virus infection of dermatomyositis-like syndrome or fatal meningitis, as well as cases of death due to Pneumocystis carinii pneumonia.
Symptom
Congenital joints without gamma-globulinemia symptoms Common symptoms Repeated infection of granulocytes to reduce sepsis bacterial infection meningitis eczema pustules immunodeficiency angioedema drug eruption
Nearly 50% of patients have a family history, all male, and the baby develops well after birth. Generally, after 6-9 months (after the IgG obtained by the mother is significantly decreased), some children have abnormal symptoms when they are 5-6 years old. .
Common symptoms are repeated serious bacterial infections such as pneumonia, bronchitis, otitis media, sinusitis, pyoderma, meningitis, gastroenteritis and sepsis, most of which are associated with arthritis, especially arthritis, recurrence of the lungs. If the infection cannot be treated promptly and effectively, it can be converted to chronic bronchiectasis. The pathogens are often pyogenic bacteria such as influenza bacillus, pneumococci, staphylococcus and streptococcus, etc. For immunotherapy, such bacteria are not easily phagocytosed by neutrophils. In addition to hepatitis virus, patients are generally resistant to general viral, fungal or protozoal infections, and are more likely to recover health. The live attenuated virus live vaccine responds normally. , indicating that the cellular immune function is normal, occasionally repeated infection with measles, epidemic mumps, the incidence of viral hepatitis and tuberculosis is also increased, and dermatomyositis-like syndrome or lethal meningitis caused by Echo virus infection, There have also been reports of deaths from Pneumocystis carinii pneumonia.
Arthritis, neutropenia, eczema, atopic dermatitis, phytotoxic dermatitis, angioedema, drug eruption or asthma can occur in about 33% of cases, and skin infections can occur in 28% of patients, especially rickets And impetigo, often distributed around the mouth.
Examine
Examination of congenital no gamma-globulinemia
1. Immunological examination: All immunoglobulin components in serum are significantly lower, the total amount of serum immunoglobulin is often less than 250mg/L, IgG in children is generally less than 100mg/L, IgA is less than 10mg/L, and IgM is less. At 10 mg/L, a small number of patients may have normal IgE levels, B cells and plasma cells are usually deleted, and pre-B cells (containing cytoplasmic immunoglobulin) are present.
There is no antibody production after inoculation of vaccines and vaccines. A simple method can be used in the skin test. The diphtheria toxoid vaccinated person is used as a diphtheria antiviral Schick test. The patient is negative because he cannot produce anti-toxin antibodies. The patient's tuberculin test was positive, indicating that the cellular immune function was normal, and the titer of anti-A and anti-B blood type lectin in the serum of the patient was very low.
2. Carrier detection: The carrier can be detected by analyzing the type of X chromosome inactivation and the selective inactivation of abnormal X chromosome in female carrier B lymphocytes.
Histopathological examination showed that the proliferation of thymus-dependent cells in the lymph nodes was normal, but no plasma cells were formed in the medulla of the lymph nodes, and no germinal center was formed in the cortex. The lymph nodes of the appendix and the small intestine were not found in the lymph nodes, and the thymus was normal. The number of lymphocytes is normal.
Diagnosis
Diagnosis and differential diagnosis of congenital no gamma globulinemia
The patient has a family history, both male, the baby was born 6 to 9 months later, some children 5 to 6 years old, the symptoms appear, repeated recurrent serious bacterial infections, such as pneumonia, bronchitis, otitis media, sinusitis , pyoderma, meningitis, gastroenteritis and sepsis, most of the arthritis, especially arthritis, recurrent infections in the lungs can not be timely and effective treatment, can be converted to chronic bronchiectasis, Pathogenic bacteria are often pyogenic bacteria such as influenza bacillus, pneumococci, staphylococcus and streptococcus, etc., cellular immune function is normal, about 33% of cases can occur arthritis, neutropenia, eczema, atopic dermatitis, Phytotoxic dermatitis, angioedema, drug eruption or asthma, etc., 28% of patients can develop skin infections, especially rickets and impetigo, often distributed around the mouth, should consider this disease.
