Westcott-Aldrich syndrome
Introduction
Introduction to Wiscott-Aldrich Syndrome Wiskott-Aldrichsyndrome is an immunodeficiency disease associated with eczema and thrombocytopenia. basic knowledge The proportion of illness: 0.001% Susceptible people: seen in newborns Mode of infection: non-infectious Complications: Asthma Urticaria Diarrhea Lymphoma Reticulum sarcoma Acute leukemia
Cause
The cause of Viscot-Aldrich syndrome
genetic factors:
The disease is a sexually associated recessive genetic disease with sporadic cases but no family history.
Pathogenesis
The genetic defect is that the afferent branch of the immune can not recognize and treat the polysaccharide or lipopolysaccharide antigen, can not transmit the immune information to the immune effector cells, or the immune effector cells have the ability to accept the immune information, and the lymphocyte deficiency of the patient with the syndrome Microvilli formed by actin bundles, in addition, patient lymphocytes and platelets cannot stably express sialoglycoproteins, especially CD43 and other proteins. Recently, defective genes have been identified by localization and cloning techniques, which encode a 53kD protein. It functions downstream of the signal transduction of a protein Cdc42 that regulates the T cell skeleton, and does not form antibodies against polysaccharide-containing bacteria such as influenza bacillus, pneumococcal and E. coli, and has a slight defect in T cell function.
Prevention
Viscot-Aldrich Syndrome Prevention
prevention:
1. Develop good hygiene habits and wash your hands before and after meals. The biliary ascariasis is caused by a patient with a mites in the intestine, and the intestinal tsutsugamushi disease is an infectious disease. The source of infection is a mites or a worm, and the infectious worms are swallowed into the intestines through the mouth and become insects. Therefore, only by getting a good source of infection and cutting off the route of transmission can we completely eradicate the occurrence of intestinal mites.
2, patients with intestinal mites, in the treatment of deworming, the amount of the drug should be enough to kill completely, otherwise the movement is active due to mild poisoning of mites, chaos everywhere, it is very possible to drill into the biliary tract and occur biliary mites disease.
Complication
Viscot-Aldrich syndrome complications Complications asthma urticaria diarrhea lymphoma reticulum sarcoma acute leukemia
Asthma, urticaria and diarrhea are more common, and are also complicated by lymphatic reticular system malignant tumors such as lymphoma, reticulum sarcoma, reticulum lymphosarcoma, malignant reticular cell hyperplasia and acute leukemia, etc., 10% of patients Malignant lesions.
Symptom
Viscote-Aldrich syndrome symptoms common symptoms diarrhea herpes eczema sepsis blood in the stool thrombocytopenic purpura thrombocytopenia tissue cell proliferation
The disease is more common in men, characterized by neonates, which begin to develop in infancy, with triad, thrombocytopenia, platelet internal metabolic disorders, easy to rupture, often cause bleeding, formation of purpura; severe eczema; repeated multiple infections.
Thrombocytopenic purpura and blood in the stool are the earliest, more common in 1 month after birth, can cause severe bleeding such as cerebral hemorrhage and gastrointestinal bleeding. Eczema usually occurs 2 to 3 months after birth, the condition is aggravated with age, difficult to control , similar to atopic dermatitis or seborrheic dermatitis, 3 months to 1 year after birth, children with frequent bacterial and viral infections, common pathogens including Gram positive and negative bacteria, causing pneumonia, bronchitis , sinusitis, otitis media, meningitis and sepsis, viruses such as measles, chicken pox, herpes simplex and cytomegalovirus infection, fungi such as Candida albicans and protozoa such as Pneumocystis carinii infection, long infection time and difficult to control .
Asthma, urticaria and diarrhea are more common, and are also complicated by lymphatic reticular system malignant tumors such as lymphoma, reticulum sarcoma, reticulum lymphosarcoma, malignant reticular cell hyperplasia and acute leukemia, etc., 10% of patients Malignant lesions are often caused by severe bleeding, infection, and malignant tumors.
Examine
Wiscott-Aldrich syndrome check
Immunological examination: the children's cells and humoral immunity are defective, and the skin is delayed in allergic reaction. About 90% of the children have negative skin test for dinitrochlorobenzene (DNCB), and the lymphocyte conversion rate is low after specific antigen stimulation. However, the conversion rate of lymphoblasts after PHA stimulation is normal. Common blood IgM and IgM genus antibodies (such as blood group clusters, etc.), but IgA and IgG levels are normal or elevated, for polysaccharide antigens (such as pneumonia). The capsular antigen of cocci stimulates the body to produce poor antibody, the response to protein antigen is normal, the lymphocytes in the blood are often reduced, the complement content and phagocytosis are normal, and the thrombocytopenia is caused by the rapid destruction of platelet internal defects. It is small in size and has an abnormal agglutination reaction to ADP, collagen and adrenaline.
Histopathological examination: the number of small lymphocytes in the thymus of children decreased, the cortex and medulla were difficult to distinguish, the lymphocytes in the paracortex of the lymph nodes were progressively attenuated, and lymphoid follicles were present.
Diagnosis
Diagnostic Identification of Viscot-Aldrich Syndrome
When thrombocytopenia and hemorrhage are the only manifestations, they should be differentiated from thrombocytopenic purpura, and the gene sequence analysis can confirm the diagnosis.
