05:42,7,Feb,2007 | (490/0/0) | Original

diagnosis of primary immunodeficiency


Children with primary immunodeficiency disease should be treated?
(A) treatment
Primary immunodeficiency disease treatment principles: protection of children in relative isolation and to encourage the combination of the normal way of life; rational use of antibiotics; targeted for immune replacement therapy, immune regulation and immune reconstitution.
1. General Care
(1) diet: risk infants should ensure adequate supply of nutrients (rich in the three major nutrients, vitamins, trace elements of the food), as containing anti-infective factors in breast milk and a variety of nutrients for the baby, it should encourage and promote breastfeeding .
(2) to reduce the chance of infection: one life for the children to create a separate living space, in order to reduce the chance of infection; on the other hand should be noted that a degree of care, to encourage their children to play with and health and schooling, in order to avoid the spirit of obstacles.
2. General treatment
(1) the use of antibiotics and antiviral drugs: vulnerable children with primary immunodeficiency patients with recurrent infections, the application of antibiotics for bacterial infections is extremely necessary, because many children will die from severe infection and even the initial infection or early infection So once the patient developed fever or other signs of infection antibiotics as soon as possible, on the appropriate choice of throat culture before treatment, blood cultures, in particular, need not sensitive to antibiotics for patients with antibiotics for bacterial culture should try to increase sensitivity, Usually the choice of antibiotics should be based fungicides, the dose is slightly larger than the immunocompetent patients, longer treatment time, and if combined antibiotics ineffective, we must consider fungi, mycoplasma or protozoa (Pneumocystis carinii) infection possibility by judging the risk factors most likely to choose the effects of drugs, such as the use of erythromycin mycoplasma, Pneumocystis carinii used sulfamethoxazole (SMZ), etc., but should not blindly use a more high-end antibiotics.
For children with immune deficiency patients antibiotic prophylaxis is quite inconsistent with the current view of the following situations, such as outbreaks of acute infection often accompanied by defects in disease-free, such as Wiskott-Aldrich syndrome, although the application of human serum gamma globulin B infection is still frequent cellular immune deficiency disease and lack of effective treatment for defects in phagocytic cell disease, preventive use of antibiotics is advocated; and the vast majority of patients with immune deficiency, only in the acute infection of the use of anti-infection treatment.
Some immune deficiency diseases can be treated with effective anti-viral, such as exposure to the flu virus or flu can be applied to an early manifestation of amantadine; severe herpes simplex virus, varicella - zoster virus i
nfection and other treatment available acyclovir .
(2) the use of blood products and vaccines:
â‘  specific serum immunoglobulin: There are hepatitis B immune globulin, tetanus, rabies specific immune globulin, cytomegalovirus still abroad (CMV), Streptococcus, Pseudomonas, herpes zoster virus-specific serum immunoglobulin, has been reported using specific immunoglobulin therapy of immune deficiency disease patients with CMV pneumonia, Streptococcus septicemia has a good effect.
â‘¡ leukocytes: phagocytosis deficiency and infection after antibiotic treatment had no significant effect, could infusion of normal blood donors by granulocyte, granulocyte input can cause fever, hepatitis B, CMV infection, AIDS and anti-neutral granulocyte antibodies, it should be strict screening of blood donors to exclude iatrogenic infection.
â‘¢ blood transfusion or blood products: contraindicated in patients with selective IgA deficiency, blood transfusion or blood products, in order to avoid patients have IgA antibodies cause severe allergic reactions, if necessary, infusion of selective IgA deficiency in asymptomatic patients with the blood, or in patients self-storage of blood, with severe cellular immune defects in patients with various blood transfusion, to avoid graft versus host reaction (graft versus host reaction, GVHR), the best use of banked blood, and must first use the 3000rad X-ray irradiation, the blood within loss of ability of lymphocyte proliferation; infusion of plasma should also first by X-ray irradiation or freezing solution 2 to 3 times to destroy residual lymphocytes in the plasma.
â‘£ patients with cellular immune deficiency: a variety of immune defects associated with patient contraindications or live vaccine inoculation of live vaccine to prevent severe disease (bacteria) seedling infection and even death.
(3) should be carried out in absolute indication when the tonsils, adenoids, spleen removal surgery.
(4) caution glucocorticoids and immunosuppressive agents.
3. Immunological treatment
(1) immune replacement: low-wide hyperlipidemia gamma globulin, sex-linked high IgM immunodeficiency, selective IgG subclass deficiencies, Ig levels near normal in patients with antibody defects or WAS and other people regularly give blood, gamma globulin preparations, reduce infection rates.
Currently, there are two formulations of clinical gammaglobulin are available, one for the intramuscular injection of human serum gamma globulin (IGIM), the other for the intravenous injection of human serum globulin (IGIV), intramuscular injection of human blood gamma intravenous immunoglobulin prohibited, because of its in vivo molecular weight compounds will be gathering National Cheng Kung University, this complex may be related to intramuscular injection of human serum gamma globulin (IGIM) occasionally cause systemic reactions related to human serum globulin (IGIM) dose in the treatment of humoral immunodeficiency disease at a monthly 100mg/kg, usually given in 3 to 5 days, a study showed that weekly doses of 10mg/kg too small to maintain normal humoral immune function, human serum gamma globulin ( IGIM) applied more widely in recent years, its features are: easy to use high doses; the role of fast; will not dissolve tissue protein damage caused by C. Ball; to avoid the pain of intramuscular injection of long-term, and may be associated with immune thrombocytopenia defects using the patient; half-life longer than IGIM; can avoid the infection of hepatitis virus or human immunodeficiency virus (HIV) risk; but the incidence of some side effects such as nausea, vomiting, facial swelling, chest tightness, cough, an increase of 3 to 4 times, but usually not life threatening for immune deficiency disease at the regular dose of 0.35 ~ 0.5g / (kg
diagnosis of primary immunodeficiency

Children with primary immunodeficiency diseases in recent years the academic study of pediatric immunization focus on primary immunodeficiency disease diagnosis and treatment as well as a reflection of a regional children's hospital immunology level of development. In order to promote our children with primary immunodeficiency disease gradually moving towards specialization and standardization of the track, raise children with primary immunodeficiency disease diagnosis and treatment, Children's Hospital of Chongqing Medical University will be held April 16, 2010 to 18 in Chongqing,
Immunodeficiency can be divided into primary and secondary. Primary immunodeficiency with compromised immune systems based on composition, can be divided into four broad categories: B cell defects, T cell defects, phagocytic cell defects or deficiencies of complement (immune system function of these components have been introduced Section 146) . Primary immune deficiency reported to date more than 70 species, and each can have multiple types of defects. Table 147-2 lists the classification of primary immunodeficiency (some rare types not included in the table.)
Including several associated with T cell deficiency (associated) B cells (antibody) deficiency disease, which is understandable, because the B cells and T cells of common origin in primitive stem cells, and T cells in B cell function. Defects in phagocytic cells, including two types of disease: one dominated by impaired cell movement (chemotaxis) as the main, and the other damaged the main activity to kill microorganisms.
In patients with primary immunodeficiency, B cell or antibody dominant defect, IgA deficiencies (most symptoms) the incidence rate of 1:400. Not asymptomatic IgA defects, B cell defects accounted for 50% of primary immunodeficiency. T cell defects in about 30%; defects in phagocytic cells, 18%; complement defects in only 2%. In the United States, symptomatic primary immunodeficiency in the overall incidence is estimated at 1:10000, every year about 400 new cases. Because many primary immunodeficiency is hereditary and congenital, and therefore found in the initial incidence of infants and children; 20 patients under the age of about 80%. Also, because many of these diseases are X linked, and thus 70% of the patients were men.
Secondary immune deficiency in the original normal human immune system, due to a disease caused by damage to the immune system. As long as the original condition or disease is corrected, the damage may be reversible. Secondary immunodeficiency common than primary immunodeficiency. In fact, almost every serious disease will be delayed healing of a degree of harm to the immune system. Table 147-3 lists the classification of secondary immunodeficiency.
Etiology
There was not immune deficiency common cause, although often associated with single-gene defects. Gene defect can cause the enzyme deficiency (such as adenosine deaminase deficiency), lack of protein (such as complement component deficiencies) or developmental stage of stagnation in certain special differentiation (such as X linked non-γ when the former B hypergammaglobulinemia cell development stagnation). In many primary immunodeficiency diseases have been found in the chromosomal locations of defective genes. The womb to certain diseases may be related to the issues (such as some cases of DiGeorge syndrome, a pregnant woman alcoholism); some are concerned with taking drugs (such as IgA deficiencies result of taking phenytoin). The majority of primary immunodeficiency is unclear the exact biological abnormalities.
Symptoms and signs
Most of the performance of immune deficiency is the result of frequent infections, repeated respiratory tract infections usually start (although many immune normal infants have occurred each year from 6 to 8 times of respiratory tract infections, especially when they are older compatriots or frequent contact with other children pm). Second, the majority of patients with immune deficiency does occur one or more serious bacterial infection, prolonged unhealed or recurrent, or cause various complications. For example, repeated sore throat or upper respiratory tract infection often occurs sinusitis, chronic ear infections and bronchitis. Can progress to pneumonia, bronchitis, bronchiectasis and respiratory failure, which is the most common cause of death. T cell deficiency in particular conditions of infection may occur (such as Pneumocystis carinii or cytomegalovirus).
Skin and mucous membrane infections are common. Stubborn thrush may be the earliest T cell immune defect performance. Especially in the absence of white blood cells can be found in oral ulcers and periodontitis. Antibody defect in many adults, there may be conjunctivitis. Pyoderma, severe warts, hair loss, eczema and telangiectasia are also common.
Common symptoms include diarrhea, malabsorption, children stunted. Often non-infectious diarrhea, but it may be associated with Giardia lamblia gram, rotavirus, cytomegalovirus or Cryptosporidium infection. Some patients can have exudative diarrhea, loss of serum proteins and lymphocytes.
The performance of immune deficiency is a rare hematological abnormalities (autoimmune hemolytic anemia, leukopenia, thrombocytopenia), autoimmune phenomena (such as vasculitis, arthritis, endocrine disease) and central nervous system problems (such as chronic encephalitis , developmental delay, seizures).
Diagnosis
In case of premature deaths, associated diseases, autoimmune diseases, allergy, early cancer or genetic relationship, etc., must understand the family history. Pedigree chart will help to test the genetic type. In the past history of immunization should pay attention to the adverse reactions and viral infections, previous surgery done (such as tonsillectomy, adenoidectomy), nasopharynx, thymus, or radiation therapy, as well as have treatment with antibiotics or globulin no obvious clinical situation.
The type of infection can determine the nature of the immune provide some clues. Most Gram-positive bacteria (pneumococcus, streptococcus) infection seen in antibody (B cell) immunodeficiency. Serious viral, fungal infections and other conditions common in cells (T cells) immune deficiency. Recurrent staphylococcal infections and Gram-negative bacterial infections more common defects in phagocytic cells. Recurrent Neisseria infection is defective complement the characteristics of several components. Certain conditions, infections (such as Pneumocystis carinii, Cryptosporidium or Toxoplasma gondii) found in several types of immune deficiency.
The age of disease onset is also helpful in the diagnosis; incidence of infants under 6 months are usually T cell defects. 6 months or so were a congenital disease antibody defects, because at this time acquired by placental transfer of maternal antibodies have disappeared.
Physical examination, patients often show chronic immunodeficiency sick and pale, malaise, malnutrition and abdominal distension. May have spotted the skin, blisters, pyoderma, eczema, petechiae, alopecia, or telangiectasia. Adult conjunctivitis common. B cells or T cell deficiency, although recurrent throat infections, cervical lymph nodes, adenoids and tonsils usually absent. Lateral pharyngeal X-ray examination may show absence of proliferating tissues. Swollen lymph nodes even be purulent. Often has scarring or perforation of the tympanic membrane. May have two nostrils and the crusts off the formation of the epidermis, suggesting that purulent nasal excretions. Postnasal drip may have on the mouth phenomenon and decreased the reflector. Often chronic cough, rales often exists, especially found in adults suffering from immunodeficiency. Liver, spleen is usually enlarged. Muscle wasting, hip fat reduction. In infants, due to chronic diarrhea, can cause perianal peeling. Neurological examination may detect retardation or ataxia.
Based on the typical combination of symptoms, many immune deficiency syndrome can make an initial clinical diagnosis. For example, newborns suffering from DiGeorge syndrome, infection, convulsions, special face and congenital heart disease; boy suffering from Wiskott-Aldrich syndrome with pyogenic infections, eczema and bleeding manifestations; children suffering from ataxia telangiectasia may have repeated nasal pulmonary infection, ataxia and telangiectasia. Some red hair color with white patients with high IgE, eczema and recurrent staphylococcal infections. These diseases will be discussed below, in Table 147-4.
Laboratory
Immune deficiency in all cases must be selected for a number of laboratory tests to establish the diagnosis; corresponding treatment in the prior art usually have to do some further testing of disease classification (Table 147-5). In general, most institutions and hospitals to test for the screening, the majority of large hospitals can be advanced test, only some of the special test with high levels of immunology laboratory or hospital laboratory to carry out.
When the suspected immune deficiency, the recommended screening laboratory tests, including all blood cell count and platelet count and classification; determination of IgG, IgM and IgA concentration; antibody function test; infection to determine the clinical and laboratory.
Blood cell count can be found in anemia, thrombocytopenia, neutropenia, or leukocytosis. Should count the total number of lymphocytes, if lymphocytes decreased (<1500/μl), suggest the possibility of T cell immune deficiency. Need for red blood cells in peripheral blood smear to check for chromatin bodies (Howell-Jolly) and other abnormal red blood cells, if prompted asplenia or splenic dysfunction syndrome. Abnormal granulocyte morphology can be displayed (if there Chédiak-Higashi syndrome particles).
Determination of immunoglobulin concentration is also one of the first screening, but IgD and IgE concentrations initially unexpected. For immunoglobulin need to be cautious in the interpretation, because a significant age difference; to adult standards, all 2 to 6 months of age have low γ hypergammaglobulinemia. Therefore, the concentration of immunoglobulin must be the same age group compared with the normal concentration. Concentration of immunoglobulin in the same general age of 2SD (standard deviation) range for normal. The total concentration of immunoglobulin (IgG IgM IgA)> 600mg/dl, or IgG> 400mg/dl while normal antibody function tests, antibodies can be excluded defects. Total immunoglobulin levels <200mg/dl was often said that the antibody defect. Reduce the concentration of medium (such as IgG concentration in the 200 ~ 400mg/dl or between total immunoglobulin in the 400 ~ 600mg/dl) no diagnosis is required to contact antibodies function tests.
Antibody screening test also is recommended for screening. Lectin with the same titer (anti-A and / or anti-B) estimated that IgM antibodies function. Apart from <6 months were infants and AB blood type, all other per capita has 1:8 (anti A) or 1:4 (anti-B) or more natural antibody titers. In some immune defects (such as Wiskott-Aldrich syndrome, IgG2 deficiency) of natural antibodies and antibodies against certain bacterial polysaccharides selective defects. Of immunized patients, can be determined on the B strain of influenza virus, rubella virus, tetanus or diphtheria antigen IgG antibody titers to estimate the function. Appear on one or more appropriate antibody response to antigen, indicating that no antibody deficiencies. Finally, screening should include examination of chronic infection. Increased erythrocyte sedimentation rate is usually the extent consistent with the infection. Should be a corresponding X-ray examination (chest, sinuses) and bacterial culture.
If all of these screening tests were normal, the immune deficiency (especially antibody deficiencies) can be ruled out. However, if proved to have chronic infection, history or the screening test was positive without any doubt, you have to check further for advanced testing.
B cells (antibody) test defects is very low as long as the total immunoglobulin (<200mg/dl), can establish the diagnosis of antibody defects, other tests used only to determine whether specific diseases and other immune deficiency test. Such as the immunoglobulin concentration and antibody titers existing low level but not to disappear, it would take one or more standardized measurement of the antigen antibody reaction. Of tetanus toxoid, B-type influenza vaccine (test reactivity to protein antigens) or pneumococcal, meningococcal vaccine (polysaccharide antigen test reactivity), before immunization and at 3 to 4 weeks after immunization, antibody titers measured degrees, in order to understand response after vaccination. If abnormal reaction (titer less than 4 times), regardless of how the concentration of immunoglobulin, indicating that antibody deficiencies.
If a lower total immunoglobulin, available fluorescent antibody against B cells (such as CD19, CD20) by flow cytometry to calculate the B cells. Normal peripheral blood lymphocytes of 10% to 20% of the surface membrane immunoglobulin positive cells (B cells).
Second, the serum IgG subclasses, IgD and IgE concentrations were measured. The concentration of IgG1 subclass (with similar IgG) was significantly related to age, usually after 2 years of age, IgG1 <250mg/dl, IgG2 <50mg/dl, IgG3 <25mg/dl or IgG4 undetectable IgG subclass deficiencies can be diagnosed. Antibody deficiency syndrome in incomplete IgD and IgE when the common abnormalities (decreased or increased concentrations of the two). IgE increased chemotaxis disease found in some T cell defects, allergic diseases and parasitic diseases. The lack of IgG4 or IgE alone had no clinical significance.
Some cases be used for other B cell defects in the trial (Table 147-5). When the lymph nodes or to other than malignant disease or infection, can be used for lymph node biopsy (sometimes need to be close to the body immunity.) IgG levels were normal or nearly normal and defective antibody function, the need for analysis of IgG subclasses. There may be four sub-classes of a sub-class of selective defects. IgG to accelerate decomposition, such as suspected or lost through the skin or gastrointestinal tract, then check for the life of IgG; If a patient is low IgG concentrations may be high-dose intravenous immune globulin, and IgG concentrations measured daily to determine its half-life. If a serious infection, can be measured secretions (tears or saliva) in the immunoglobulin concentration. IgG synthesis can be detected in vitro as well as phage-specific antigen, or keyhole hemocyanin antibody responses to determine the exact position blocking antibody synthesis. In some diseases, genetic defects, the use of special laboratory tests to find the gene mutation or mutations in the gene product (such as X-linked hypergammaglobulinemia without γ confirmed by Bruton tyrosine kinase gene)
Experimental T cell defects in long-lasting and extremely severe lymphocytopenia suggest T cell deficiency. However, lymphopenia is not uncommon. Chest X-ray screening of infants is a useful way of T cell defects. Especially in the newborn infection or other stress can make smaller thymus before the onset of X-ray examination conditions, such as the thymus can not see the image, suggesting T cell defects.
Delayed type hypersensitivity skin test in children over 2 years old is valuable screening test T cell defects. Using the following antigens: mumps antigen, Candida antigen (1:100), liquid tetanus toxoid (1:10), and Trichophyton antigens. Almost all adults and most of the immunization of infants and children in one or several antigens will react in diameter in 48 hours> 5mm of erythema and induration. There is delayed one or more positive skin test usually indicates that T cell system is not damaged.
Diagnosis of advanced cellular immune test is the most valuable T cells and T cell subsets (secondary / induced cells and suppressor / cytotoxic cell) count. Usually T cell-specific mouse monoclonal antibody for detection by flow cytometry. Of whole T cell antibodies (anti-CD3, anti-CD2) determination of total T cells, anti-CD4 antibody T auxiliary / induced, anti-CD8 antibody in T suppressor / cytotoxic cells (sheep red blood cells of these trials have alternative T cell count knot method .) When the auxiliary T cells (CD4) count <500 cells / μl, highly suggestive of T cell immune deficiency. CD4 count <200 cells / μl, the severe T cell immunodeficiency. CD4/CD8 (secondary / suppressor) cell ratio should be> 1.0. The inverted ratio of T cells also suggest that immune deficiency (AIDS CD4/CD8 ratio decreased in the immune system of that damage.) Monoclonal antibodies can detect activated cells (CD25), natural killer cells (CD16 and CD56) and immature T cells in thymus cells) antigens (CD1).
Measuring patients lymphocyte proliferation and increase (conversion) capability is another advanced test is an effective mitogen (such as PHA, Con A), irradiated with the kinds of white blood cells (for the mixed leukocyte reaction) or the patient's last contact with antigen, and lymphocyte co-culture. In these stimulated normal lymphocytes rapid division, which can be morphological or radioactive thymidine incorporation method of dividing cells to be determined. The extent that the proliferation index - usually stimulated cells counts per minute (CPM) with the same amount of unstimulated cells the ratio of counts per minute. T cell defects in patients consistent with the existence and extent of the damage the proliferation of immune response phenomenon of lower or even disappear. Of mitogen (to activate all the cells) the proliferative response (stimulation index of 50 to 100) was significantly higher than that of the antigen or allogeneic cell response (stimulation index of 3 to 30).
Special tests can also be measured in mitogen or antigen stimulated lymphokine generation. 30 kinds of lymphokines, but usually measured γ-interferon (IFN-γ) and interleukin -2 (IL-2), interleukin -4 (IL-4) and α-tumor necrosis factor. Some patients have the appropriate proliferative response, but lower lymph cytokine production [such as chronic mucocutaneous candidiasis when the migration inhibitory factor (MIF) defects]. Another group of special test cytotoxic function can be determined. Use of different tumor cells or virus-infected target cells of different types of cytotoxic measured (natural killer cells, antibody dependent cytotoxicity or cytotoxic T cells). Cellular immune deficiency may have different cytotoxic defect. In certain types of combined immune deficiency, purine metabolic pathways of some enzymes (adenylate deaminase, nucleoside phosphorylase) are flawed, available red blood cells determined. Finally, you can determine the different thymic hormone (thymosin, serum thymic factor), these hormones in some decrease in cellular immune defects. HLA typing can be detected by the second group cells (chimeras) the presence of HLA antigens may also be excluded from the defect (bare lymphocyte syndrome). www.med126.com
In a small number of T cell activation deficiency by T cell receptor signal transduction pathway integrity and to determine to be determined.
Phagocytes defective exact test when the patient has a history of immune deficiency and B cells and T cell immunity is normal, the need to check whether the phagocytes obstacles. Sites of inflammation without pus formation or delayed umbilical cord fall off, but nor neutropenia, the clinical phenomena suggest the presence of this chemotactic defect.
In addition to screening blood cell counts, we must also determine the concentration of IgE (an obstacle in many chemotactic will increase IgE), and nitrogen blue tetrazolium (NBT) reduction test to diagnose the most common defects in phagocytic cells - chronic granulomatous disease. The principle is the NBT test, granulocyte phagocytosis and killing time during their metabolic activity increased, so that the formation of the colorless NBT reduction of blue armor. Chronic granulomatous disease did not change when such staining appeared naked eye, microscope or spectrophotometer determination.
Special test, the first do to determine granulocyte and myeloperoxidase staining, alkaline phosphatase or esterase. If these staining test was negative, then you need to do quantitatively. Second, cell movement can Rebuck skin window test. Method is to scratch the surface of the skin with a scalpel, put a cover glass thereon, and then replace the cover glass at regular intervals, so move the cell staining. Polymorphonuclear cells should be poured into the first 2 hours to 24 hours instead of mononuclear cells. Abnormal chemotaxis chemotaxis in vitro tests can be measured. The law in a special chamber chemotaxis (Boyden chamber) or agarose plates observed granulocyte or mononuclear cell migration, determine the cell toward the chemotactic attraction (such as by opsonin-treated zymosan) mobile ability.
Second, phagocytosis of particles can be separated by counting mononuclear phagocytic cells or latex particles or bacteria as a test case, then measure the bactericidal effect. Method will be patient in the fresh serum and the known amount of viable granulocytes mixed, and then within 2 hours the number of series of quantitative bacteria.
Other defects in phagocytic cells to determine the specific tests include: giving corticosteroids, epinephrine or endotoxin determination of the role of granulocyte mobilization; quantitative determination of granulocyte enzymes (myeloperoxidase, glucose 6 - phosphate dehydrogenase, etc.); granulocyte oxidative Determination of the product (hydrogen peroxide, superoxide); granulocyte-specific protein in [CR3 (CD11), adhesion glycoprotein nicotinamide adenine dinucleotide phosphate component], which can distinguish four kinds of genetic types of chronic granulomatous swelling type.
Complement deficiencies of complement abnormal screening test is the serum total complement activity (CH50) and serum C3, C4 concentration. Found that low concentrations of any of them, you must then do classical pathway and alternative pathway of complement titration, and determination of the various complement components. Classical pathway components and immune deficiencies kidney disease, serum response or acute infection Sikh. Complement components required for the determination of unit-specific antiserum or red blood cells sensitized with tested components and complement components outside the solution of all.
Can be measured with anti-complement regulatory proteins in serum; hereditary angioedema associated with C1 inhibitor deficiencies more, C3, C3 catabolic defects associated with excessive â…  factor (C3 inhibitor) deficiency. Serum conditioning activity, chemotactic activity or bactericidal activity could be used as an indirect test of complement function. A detailed discussion of the complement test, see Section 146.
Prevention
The prevention of primary immune deficiency limited to the genes known to be an accredited genetic counseling. In cultured amniotic fluid cells or fetal blood for prenatal diagnosis can be used for a few immune deficiency, such as X linked non-γ hypergammaglobulinemia, Wiskott-Aldrich syndrome, seem to lack most of the severe combined immunodeficiency, adenosine deaminase with defects and chronic granulomatous disease. Sex test except for X linked defect help. In some primary immunodeficiency could be detected in heterozygotes.
Prognosis
The majority of primary immunodeficiency diseases from genetic, life-long illness. The prognosis changed dramatically (Table 147-6), certain immune deficiency diseases can stem cell transplantation. Most of antibody or complement deficiencies in patients with defects if early diagnosis and regular treatment, not associated with chronic diseases (such as lung disease) have a better prognosis, with normal life expectancy is similar. Other patients with immune deficiency diseases such as phagocytic cells, antibody deficiencies combined deficiency disorders or chronic infection will affect their life. Most patients suffering from chronic diseases need intensive treatment (such as intravenous IgG, antibiotics, postural drainage, surgery, etc.). There are some immune deficiency patients with poor prognosis, short life (ataxia telangiectasia without transplantation in severe combined immunodeficiency disease).
Immunodeficiency diseases are two funds to help the patient education and research, that Jeffrey Modell Foundation (1-800-JEFF-844) and immunodeficiency Fund (1-800-296-4433).
Treatment
The general treatment of immune deficiency extraordinary amount of care needed to maintain optimal health and nutritional status, treatment onset infection, prevention and disease-related emotional problems (see Section 151), appropriate arrangements for medical expenses. Contact with infected patients must try not to sleep lying in his bed, the best have their own bedroom. Antibody function in certain circumstances, should regularly be given the vaccine died. Diseased teeth to be properly repaired.
Antibiotic treatment of infectious episodes is crucial. Choice and dose of antibiotics is usually the same. However, due to the rapid immune deficiency patients may die of infections, fever and other signs of infection should be considered is the performance of secondary bacterial infection, antibiotic treatment must begin immediately. If the infection is not sensitive to the initial choice of antibiotics, or infection in non-common micro-organisms, especially when treatment is necessary before the throat, blood and other training.
Continuous prophylactic antibiotic therapy is often beneficial for the immune deficiency, especially when there are sudden destruction of the risk of infection (such as the Wiskott-Aldrich syndrome, asplenia syndrome); or other types of immune therapy does not work (such as defects in phagocytic cells) or invalid (if no γ repeated infections hypergammaglobulinemia ineffective treatment with γ-globulin); or when there are special infections (such as when the cellular immune deficiency disease Pneumocystis carinii infection), the high danger.
Antiviral therapy, including the use of amantadine or rimantadine (rimantadine) to treat the infection, acyclovir treatment of herpes infections (including varicella - zoster), ribavirin (ribavirin) in treatment of respiratory co-spore virus.
Immune globulin (IG) is a type of antibody deficiency most effective alternative therapy. This is a trace containing 16.5% IgG and IgM, IgA solution for intramuscular or subcutaneous injection, or 3% to 6% of the intravenous infusion (IGIV). The amount used for the 200mg/kg [16.5% products for 1.4ml/kg, 5% products to 400mg/kg (8ml/kg)], divided into 2 or 3 times, medication 2 to 5 days, then every interval of one month of giving 100mg / kg [16.5% or 5% of products for 0.7ml/kg products to 200mg/kg (4ml/kg)]. Small dose of no treatment effect. Because 100mg/kgIgG IgG concentration in serum is only about 100mg/dl. Some patients require higher doses or more frequent dosing. Intramuscular injection of a maximum amount of area adults 10ml, children 5ml, which may require different parts of the multi-point injection. Antibody defect in some patients respond well to conventional doses can be given a month to the larger 400 ~ 800mg/kg dose intravenous immunoglobulin may be effective, especially seen in chronic lung disease. The purpose of a high dose of IGIV is to achieve normal serum IgG levels (> 500mg/dl). Slow subcutaneous injection of IgG or 10% IVIG once a week interval has been used as a high-dose IgG treatment (per month> 400mg/kg).
Plasma was used instead of IG, but due to the risk of disease transmission, has been seldom used. In addition to containing a variety of immune serum globulin, but also with a variety of factors, so the loss of protein enteropathy, complement defects and persistent diarrhea patients are particularly effective. No IgA plasma has been successfully applied to the IG products in IgA allergy patients.
Other therapies include immunostimulants (levamisole, isopropyl inosine); biological products (transfer factor, interleukin, interferon); and hormone (thymic hormones), treatment of immune defects in phagocytic cells or limited efficacy. To bovine adenosine deaminase combined with polyethylene glycol (PEG-ADA) as an enzyme replacement on a small number of defects in patients with adenosine deaminase effectively.
Stem cell transplantation, bone marrow transplant usually immune deficiency can sometimes be completely corrected (see Section 149). In severe combined immune deficiency and certain types of patients varied with the HLA type, mixed leukocyte culture (MLC) the matching bone marrow for transplant fellow to obtain immune reconstitution of patients has reached more than 300 cases. All or part of the cellular immune defects (such as the Wiskott-Aldrich Syndrome) patients, immunosuppressive drugs must be given to ensure successful transplantation. If it can not be matched sibling donor, the parents of the half came from the same type of (semi-matched) bone marrow transplantation can be applied. In this case, the parents must be removed before transplantation can cause GVHD in bone marrow of mature T lymphocytes, available Soybean agglutinin or T cell monoclonal antibody successfully removed. On the other hand, can also be applied by the international registration of bone marrow transplantation, but matched unrelated bone marrow. HLA matching is also available from our compatriots, or HLA-compatible database as stem cells taken from umbilical cord blood. These special operations capable of only a few centers.
Fetal thymus, cultured neonatal thymus, thymic epithelial cells and fetal liver transplantation is sometimes successful, especially the use of fetal thymus transplantation in DiGeorge syndrome of abnorma
l force.
Note B cells or T cell immune deficiency patients are not receiving live vaccine (such as polio, measles, mumps, rubella, BCG), because of the induced disease. On the immune defect may not use the patient's family members live polio virus vaccine. Cellular immune deficiency patients may not give full lymphocytes may contain blood products, due to graft versus host disease occurred (GVHD) risk. Therefore, whole blood or blood components (red cells, platelets, granulocytes, plasma) before use must be approved by irradiation (15 ~ 30Gy), to prevent the occurrence of GVHD. Patients should also be lost CMV antibody negative donor blood products. Defects in patients with selective IgA should normally avoid using γ-globulin or plasma, as can produce anti-IgA antibodies or causes a reaction. Splenomegaly patients should avoid contact sports. Thrombocytopenia patients should avoid intramuscular immunoglobulin, surgical and dental procedures should be given antibiotics.
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