Abnormal gamma-globulinemia

Introduction to abnormal gammaglobulinemia Dysgammaglobulinemia, a selective or partial immunoglobulin synthesis deficiency disease (selectiveorpartimoglobulindeficiencies), is limited to one or more immunoglobulin deficiency, while the remaining immunoglobulins are normal or elevated. . It belongs to primary humoral immunodeficiency disease. basic knowledge The proportion of illness: 0.001% Susceptible people: no special people Mode of infection: non-infectious Complications: splenomegaly

Cause of abnormal -globulinemia

(1) Causes of the disease

1. Selective IgA deficiency is mostly autosomal recessive, occasionally autosomal dominant, about 50% of patients with selective IgA deficiency HLA-B8 positive (normal 20% to 50% positive).

2. The immunoglobulin deficiency associated with increased IgM is an X-linked genetic disease caused by defects in B cell differentiation. Under normal circumstances, several antibodies are sequentially produced during humoral immunity, first IgM, IgD, followed by IgG. IgA, and finally IgE; and, on the surface of B cells, there is one glycoprotein called CD40, and there is a corresponding CD40 ligand on the surface of activated T cells. The production of B cell-switching antibodies requires a contact-dependent signal from T cells.

(two) pathogenesis

1. Molecular genetic studies of selective IgA deficiency suggest that the disease may be associated with the susceptibility gene, the complement 4A gene (C4A) located in the MHC class III region of chromosome 6.

2. Immunoglobulin deficiency with increased IgM The B cell in this disease is blocked by the conversion of IgM/IgD secretion to other types of immunoglobulins. The defective gene is located on chromosome Xq26 and is a gene encoding CD40 ligand. The patient's T cells are unable to synthesize CD40 ligand or produce a non-functional CD40 ligand.

Abnormal gamma globulinemia prevention

Strengthening care and nutrition: to improve the patient's resistance and immunity, prevent infection: attention should be paid to isolation to minimize contact with pathogens.

Abnormal gammaglobulinemia complications Complications

Selective IgM deficiency can be complicated by tumors and autoimmune diseases, with immunoglobulin deficiency with increased IgM, nephropathy, cervical lymph nodes, liver, spleen, and generalized vulgaris.

Abnormal -globulinemia symptoms Common symptoms Immunodeficiency immune hemolytic hemolytic anemia Ataxia Repeated infection Septicemia

1. Selective IgA deficiency is the most common type of this type of immunodeficiency disease, the incidence rate is 0.15% to 0.7%, most of which have no clinical symptoms, and are one variation of normal state. The most common symptoms are light and heavy. Repeated sinus and respiratory tract infections, bronchial asthma is heavier, some patients have recurrent respiratory infections, otitis media, sinusitis and pneumonia, allergic rhinitis, asthma, urticaria and eczema are 3 times higher than the general population, 30% ~ 50% can be combined with autoimmune diseases such as SLE, autoimmune hemolytic anemia, idiopathic thrombocytopenic purpura and cirrhosis, often accompanied by ataxia - telangiectasia (80%), malabsorption syndrome ( 3%), gluten enteropathy, hypersplenism, lethal hemorrhagic varicella and central nervous system lesions.

2. Selective IgM deficiency There are only a few reports of IgM deficiency alone. The patient's ability to fight infection is very low. The response to antigen-stimulated antibody is very weak. It is prone to Gram-negative bacterial sepsis and death. Blood lectin Also low, often splenomegaly, can be complicated by tumors and autoimmune diseases.

3. Selective IgG deficiency IgG deficiency alone is a familial disease, IgG and albumin catabolism is increased, the patient's ability to fight infection is very low, the response to antigen-stimulated antibodies is very weak, often recurrent purulent infection The application of -globulin therapy is effective.

4. Immunoglobulin deficiency with increased IgM is more common. Male patients are seen in 1-2 years old. Although they are often associated with sexual inheritance, female infants have similar clinical manifestations and immunoglobulin types. Patients often have suppuration. Sexual infections, often associated with blood system diseases, such as neutropenia, aplastic anemia, hemolytic anemia, thrombocytopenia, kidney disease, cervical lymph nodes, liver, splenomegaly, generalized vulgaris Hey, only IgM antibodies are produced after vaccination or infection, while 1gG and 1gA are rare. Malignant invasive lesions of IgM-producing cells often occur, usually starting from the gastrointestinal tract and finally involving all internal organs.

Examination of abnormal gamma globulinemia

Immunological examination: The level of corresponding immunoglobulin in serum is often significantly reduced.

1. Selective IgA deficiency serum IgA is less than 50mg / L, routine laboratory tests found that there is no IgA in serum and exocrine fluid, a small amount of IgA can be detected by sensitive techniques, patients have been found to spontaneously produce anti-IgA antibodies, or because Blood transfusion, the production of these antibodies after injection of commercially available -globulin, most patients have normal numbers of lymphocytes in the peripheral blood. These lymphocytes are stimulated in vitro to synthesize IgA molecules, but can not be secreted, so the defects appear to be located in IgA producing cells. At the final stage of IgA-secreting cell transformation, some patients can detect an increase in IgA-inhibiting T cells or a decrease in IgA-assisted T cells.

2. Selective IgM deficiency has a low or no serum IgM content.

3. Selective IgG deficiency serum IgG levels are low or absent.

4. IgM with elevated IgM serum IgM is higher than normal or normal high level, while IgG and IgA are lower than normal or lack.

Histopathological examination: partial tissue in the non-thymus-dependent area of the surrounding lymphoid tissue is underdeveloped, the number of lymphoid follicles and germinal centers is small, the plasma cell is not mature enough, and the immunoglobulin deficiency with increased IgM shows histology of IgM. Cells are dominant.

Diagnosis and diagnosis of abnormal -globulinemia

Generally not confused with other diseases.

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