Under the name selective immunoglobulin A deficiency is understood to be a congenital immune defect. The lack of immunoglobulin A, a specific class of antibodies, is characteristic of selective immunoglobulin A deficiency. Those affected can lead a symptom-free life, and they are more likely to develop respiratory infections than people who do not suffer from selective immunoglobulin A deficiency.
What is Selective Immunoglobulin A Deficiency?More than 50 percent of all those affected are free of complaints. This is because the function of the missing immunoglobulin A is replaced by immunoglobulin B present in the mucous membranes.
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Of the selective immunoglobulin A deficiency is a congenital immune defect. Characteristic for the defect is the lack or also the decrease of the immunoglobulin A, while all other immunoglobulin isotypes correspond to the norm. The selective immunoglobulin A deficiency is one of the most common immunodeficiencies, with ethnic background playing an essential role.
While the frequency in the Arab region is 1: 142, the probability in Japan is 1: 18,500. While selective immunoglobulin A deficiency is a fairly common disease in Africa and the western world, the exact opposite is the case in Asia.
The cause of the selective immunoglobulin A deficiency is not yet known. However, the deficiency results from a lack of maturation or a lack of production of immunoglobulin A in the B cells. The selective immunoglobulin A deficiency is further differentiated into IgA1 and IgA2. The physician uses IgA1 to refer to the monomeric immunoglobulin (the circulating serum) and IgA2 to the dimera immunoglobulin (the secretory immunoglobulin).
Sometimes drugs - including phenytoin and penicillamine - as well as infections (for example the Epstein-Barr virus or congenital rubella) can trigger an acquired selective immunoglobulin A deficiency. Other causes or contributing factors have not yet been confirmed.
Symptoms, ailments & signs
The extent of the selective immunoglobulin A deficiency is extremely variable and individual. More than 50 percent of all those affected are free from complaints. This is because the function of the missing immunoglobulin A is replaced by immunoglobulin B present in the mucous membranes. However, 30 percent of patients suffer from recurring respiratory infections. In rare cases, patients complain of complaints that mainly affect the digestive system.
Sometimes autoimmune or tumor diseases as well as allergies can occur, which are related to the selective immunoglobulin A deficiency. The following complaints and diseases are therefore possible - within the framework of a selective immunoglobulin A deficiency: infections (bronchitis, pneumonia, sinusitis), autoimmune diseases (lupus erythematosus, celiac disease, Crohn's disease and rheumatoid arthritis.
Ulcerative colitis and allergies such as atopy, food intolerance and allergic bronchial asthma) can trigger a selective immunoglobin A deficiency, as can tumor diseases (thymomas, lymphomas, tumors of the digestive system, lung tumors and stomach cancer) and problems with the digestive system (diarrhea) .
The selective immunoglobulin A deficiency manifests itself primarily through diseases that are related to the deficiency, but not with specific symptoms and complaints caused by the deficiency.
Diagnosis & course of disease
On the basis of the repeated determination of the immunoglobulin A concentration, the physician can diagnose selective immunoglobulin A deficiency. Patients suffering from selective immunoglobulin A deficiency have an extremely low immunoglobulin A value, which is below 0.3 g / l. The two subclasses IgA1 and IgA2 are mainly affected, while the value of IgM is normal.
Any other immunodeficiencies as well as secondary immunoglobulin A deficiency must be ruled out before a diagnosis of selective immunoglobulin A deficiency is made. Often times the diagnosis is based on the elimination process; This means that all other diseases that could be considered were excluded so that the diagnosis of selective immunoglobulin A deficiency could be made.
Patients with selective immunoglobulin A deficiency have a normal life expectancy. The prognosis and the course of the disease are favorable if there are no other diseases. If the selective immunoglobulin A deficiency is diagnosed in children, there is a possibility that the deficiency will regress. Sometimes, however, the selective immunoglobulin A deficiency can also lead to CVID; the prognosis here is less favorable. As with the complaints, the disease is individual and variable, so that no precise predictions and prognoses can be made.
This disease does not have to lead to serious complaints or complications in every case. Often times, those affected can lead an ordinary life, although more often they suffer from respiratory diseases. These infections are relatively common and can reduce the quality of life. This deficiency can also cause digestive problems, which can lead to pain in the abdomen or stomach.
The disease can also lead to the formation of tumors. Those affected often suffer from intolerance to various foods and just as often from diarrhea or from tumors in the stomach and intestines. In many cases, the disease is recognized late because the symptoms are not particularly characteristic and do not immediately indicate the disease.
For this reason, treatment is usually too late. The treatment itself is usually carried out with the help of medication or blood transfusions. There are no complications. However, the symptoms cannot be completely limited. The patient's life expectancy may also be reduced due to the illness.
When should you go to the doctor?
Selective immunoglobulin A deficiency is an immunodeficiency that is innate. In this respect, there is a certain probability that it will be discovered early. The problem, however, is that this immune deficiency often only shows mild symptoms. So far there is no causal treatment option.
Those affected lack immunoglobulin A, a certain type of antibody. The absence of this antibody does not cause any symptoms in half of those affected. In other affected persons, there is an accumulation of respiratory infections. It is also precarious that the selective immunoglobulin A deficiency can lead to further secondary diseases. Examples include diseases of the digestive system, autoimmune diseases such as celiac disease, Crohn's disease or lupus erythematosus. In addition, the selective immunoglobulin A deficiency can lead to food allergies to milk protein, atopy or allergic bronchial asthma.
The tendency for certain tumor diseases is increased in many sufferers. If there is a selective immunoglobulin A deficiency, other immunodeficiencies must first be eliminated. It is therefore advisable to see a doctor if you have persistent immune problems or infections and point out the immunodeficiency problems.
An infusion with immunoglobulins is counterproductive in the case of a selective immunoglobulin A deficiency. This can lead to severe allergic sequelae because the injected substance is perceived by the organism as unknown and hostile. Blood transfusions can also trigger dangerous reactions. An emergency card is therefore recommended to those affected whose diagnosis has been confirmed.
Therapy & Treatment
Treatment is primarily based on relieving symptoms and ailments. There is no so-called cause treatment. Patients who are free from symptoms therefore also do not need any treatment or therapy; the majority, i.e. over 50 percent of all those affected, are therefore not receiving medical treatment and therefore do not feel any restrictions in their lives.
If infections occur that are related to the selective immunoglobulin A deficiency, the viruses or pathogens must be treated and fought. Here, doctors usually prescribe antibiotics. Occasionally, prophylactic antibiotic therapy can also be used so that any recurring infections can be fought and prevented in advance.
Intravenous infusions of immunoglobulins do not usually occur; Patients suffering from a selective immunoglobulin A deficiency produce antibodies themselves which - if immunoglobulins are added - can lead to allergic reactions when immunoglobulins are transferred. For this reason, the selective immunoglobulin A deficiency is the most important contraindication for any IVIG therapy.
For this reason there is - with blood transfusions - the risk of triggering allergic reactions as well. For this reason, people suffering from selective immunoglobulin A deficiency are advised to always have their emergency ID with them and, if any interventions are planned, to inform the doctor about it. Other therapies or treatment options are currently not available or are not being used.
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A selective immunoglobulin A deficiency cannot be prevented. Since it is a congenital immunodeficiency, although the cause has not yet been fully clarified, the disease cannot be prevented.
In the case of the immunodeficiency of selective immunoglobulin A deficiency, follow-up care is limited to symptomatic therapy. Due to the increased risk of infection, aftercare mainly includes the treatment and alleviation of any infections that may arise, especially of the respiratory tract and, more rarely, of the digestive system, with the help of antibiotics. In some cases, prophylactic therapy with antibiotics is necessary for a longer period of time.
It is important here that the patient is aware of the increased risk of respiratory infections and tries to treat pathogens in a timely and targeted manner with medical help. With this disease there is still an increased risk of developing tumors or autoimmune diseases such as Crohn's disease or rheumatoid arthritis.
There is also the possibility of developing allergies and also food intolerances, which can often be alleviated by a certain diet. Therefore, regular check-ups after diagnosis are necessary to monitor this. Because of the risk of allergic reactions to blood transfusions, the person with selective IgA deficiency should carry an emergency ID card.
The selective immunoglobulin A deficiency cannot be cured. For the majority of the sick people, however, an almost symptom-free life is possible and life expectancy is normal or only slightly reduced.
You can do that yourself
The problems caused by selective immunoglobulin A deficiency can be reduced by prophylactic measures. In everyday life, targeted control of the pathogen reduces the risk of respiratory infections, asthma and eczema. The congenital disease often leads to infections, which is why it is of great importance for those affected to treat the pathogens in a timely and targeted manner.
When taking antibiotics, patients should strictly adhere to the doctor's prescription.In the meantime, drug treatment is already taking place preventively in order to keep the symptoms as low as possible. However, since it is a genetic disease, there are limits to pharmacological therapy. For those affected, this means that they have to be particularly careful in certain situations.
If a blood transfusion does occur, there is a risk of an allergic reaction. For this reason, it is advisable that the persons concerned always have their emergency ID with them. In the event of an emergency or intervention, the doctors immediately know about the deficiency disease and can take appropriate precautionary measures. For the patients themselves, it makes sense to act in good time in the event of an infection or other illness in order to prevent complications. A trusting relationship with the family doctor helps.