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Section III common primary immunodeficiency diseaseSince routine measurement of serum Ig, it is congenital antibody deficiency immunological diagnosis easier.(A) Low-linked first reported in 1952 by Bruton, is also known as Bruton agammaglobulinemia low, for the most common congenital B cell immunodeficiency disease.Low levels of serum Igs, or undetectable, in peripheral blood and lymphoid tissues b cells decreased or lack of lymph nodes without germinal centers, the organization is no plasma cells. Although B cells before VDJ rearrangements and chain to produce normal, but the light chain gene rearrangement and expression are flawed, so before the B cells can not mature into sIgM + B cells. The T cell maturation in children, number and function was normal.The disease is an X chromosome carrying the defective gene but the phenotype of normal mother to his son. The X-chromosome locus q21.3 ~ 22 zone. Have shown that the disease is not from the X chromosome defects in a single gene but rather the result of multiple genetic abnormalities.Children had conjunctival, pharyngeal, skin, middle ear, trachea and lungs repeated suppurative infections, but intracellular parasites and fungal infections respond to normal. Lgs agents effective treatment.(B) selective immunoglobulin deficiencies1. Selective IgA deficiencies are the most common form of selective Ig deficiencies. Incidence rate of


about 1 / 700, autosomal dominant inheritance or settlement. However, some patients are embryonic exposure to rubella virus infection or drug treatment, serum IgA levels <50 g/M1, IgM and IgG levels were normal or slightly higher. Expression of IgA in B cells can not differentiate into plasma cells secrete antibodies, but IgA -chain gene expression and membrane normal.2. Select from the IgM B cell differentiation defects are mostly caused by abnormal, the IgM antibodies are mostly of autoantibodies, with their own cells to stimulate TH cells did not respond.3. Selective IgG subclass deficiencies are mostly caused by the abnormal B cell differentiation, a few for different due to the constant region gene deletions.4. Elevated IgM, IgG and IgA defect is sex-linked genetic diseases, IgM antibodies are mostly of their own antibodies, blood cells with their own responses. Patient IgG and IgA heavy chain conversion disorder.Second, T cell deficiency diseases(A) DiGeoge syndrome (congenital thymic dysplasia)This line of congenital defects in selective T cell early pregnancy the third and fourth pharyngeal pouch development disorder, resulting in the thymus, parathyroid glands, aortic arch, lip and ear and dysplasia. T cells fail to mature due to Erzhi cell immunodeficiency, hypocalcemia, muscle twitching, and facial deformities and other large vessels. Lack of blood or a significant reduction in T cells, but antibody levels were normal. Intracellular parasite patients, viral and fungal susceptibility. Fetal thymus transplantation effective, but T cells may mature in the thymus outside the organization, it can be naturally with age of disease remission, often return to normal before age 5. Athymic nude mice is a selective T cell defects in the natural animal model.(B) T cell activation and dysfunctionIn this regard in recent years have reported, the mechanism may be: T cell receptor (TCR): CD3 complex expression defects; TCR: CD3 complex signaling abnormalities; IL-2 and IFV- and other cytokines defects; IL- 2 or IL-1 receptor defect.C, T and B cells combined with defective disease(A) severe combined immunodeficiencySevere combined immunodeficiency disease (severe combined immunoideficiency disease, SCID) is due to defects in stem cells show T, B cells decreased, both humoral and cellular immune defects. 6 months from the onset of birth, infections of all types are vulnerable.Sex linked recessive SCID, and both autosomal recessive mode of inheritance, which first patient found in Switzerland, it is also known as Swiss-type agammaglobulinemia low.About 20% SCID by the adenosine deaminase (adenodine deaminase, ADA) defects caused, ADA catalytic deamination of adenosine and deoxyadenosine into inosine and 2, respectively - deoxy inosine. 2, dye color in the body of the ADA gene deletion or mutation is caused by defects in ADA. ADA very widespin lymphocytes You Fengfu. ADA deficiency leads to deoxy-adenosine and deoxy-ATP accumulation in the cell, especially lymphocytes, these two metabolites on lymphocyte toxicity, they can inhibit ribonucleotide reductase activity and impede DNA synthesis.ADA gene has been cloned, can be functional ADA gene into their bone marrow cells of patients with transfusion them for therapeutic purposes.A small number of autosomal recessive SCID located on chromosome 14 by the on purine nucleoside phosphorylase (purine nucleosidephosphorylase, PNP) gene deletion or mutation, PNP to inosine and guanosine, respectively, into hypoxanthine and guanine catalyzed , PNP deficiency leads to toxic deoxyguanosine and deoxy-guanosine three acid accumulation in the cell.
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