In medicine, we speak of an immune defect or immunodeficiency when the immune system is disturbed and can no longer protect the body from pathogens and cancer cells. In healthy people, the immune defense system functions quite well, but it is also very susceptible to disruption.
What is an immunodeficiency?
In medicine, a distinction is made between two types of immunodeficiency. First, the immunodeficiency may be congenital (primary immunodeficiency) or it may be acquired during life (secondary immunodeficiency). Primary immunodeficiency occurs less frequently and is due to defective genes that are responsible for the formation of antibodies. In recent years, they have either increased in number or are now better recognized. Secondary immunodeficiency is an acquired disorder due to certain diseases or deficiencies. In this case, the defense cells and antibodies are destroyed by viruses, chemical toxins, severe diseases or wrong lifestyle.
Causes
The cause of congenital immunodeficiencies has not yet been precisely determined scientifically. However, experts have agreed in recent years that a specific gene is responsible, which destroys the function of antibodies. Acquired immunodeficiencies can have a variety of causes. Serious infectious diseases that weaken or even destroy the body’s defense system (as in AIDS), leukemia, cancer therapies, major surgeries, intake of immunosuppressant drugs (after transplants), prolonged stressful situations, drugs, malnutrition, poisoning, chronic diseases such as diabetes can trigger immunodeficiencies.
Symptoms, complaints, and signs
When an immunodeficiency is diagnosed, the chances of recovery vary greatly. If the patient is accompanied by drug therapy, life expectancy may be in line with that of healthy people. Early diagnosis and consistent adherence to therapy are important for a good quality of life. A healthy immune system is maintained with a healthy diet, plenty of outdoor exercise and adequate sleep. Drinking alcohol and smoking are detrimental to the immune system and should be refrained from. Of course, this is especially true for patients diagnosed with immunodeficiency. In the best case, people affected by immunodeficiency can be symptom-free for their entire lives and not require medical treatment. Other sufferers will need to seek medical treatment at regular intervals. Infusions help stabilize the body with the missing antibodies. Depending on the nature of the underlying disease, single or multiple infusions will be required for the healing process. Special care should be taken to prevent infectious diseases. Large gatherings of people and contact with infected people, especially with colds, should be avoided. Last but not least, the close connection between the psyche and the immune system should be pointed out. Research shows that the immune system functions better when the mood is positive. A positive attitude toward life and open communication contribute to healing and relief, respectively.
Diagnosis and course
Early diagnosis, especially for congenital immunodeficiencies, is vital. Therefore, patients and physicians should be alert to certain warning signs. If more than two pneumonias, more than four serious infections per year, recurrent skin abscesses, and fungal infections of the oral mucosa occur, or if vaccination complications and growth disturbances develop, it is essential to see a specialist for further diagnosis. In general, the immunodeficiency can be detected by a blood test. In this process, the antibodies in the blood can be accurately detected and a deficiency can be precisely determined. Doctors can immediately recognize whether an immunodeficiency is present or not. If an immunodeficiency has already occurred in the family, an examination should even take place in the mother’s womb.
Complications
Various complications and discomforts can result from an immunodeficiency. In the worst case, however, the patient dies of an infection or disease because the body cannot defend itself against it. The immunodeficiency leads to an increased susceptibility to infections and inflammations, which is why the patient becomes ill more often. Those affected suffer primarily from inflammation of the ears and lungs.In the worst case, these inflammations can be life-threatening and extremely restrict the quality of life. In many cases, the constant illnesses also lead to psychological discomfort, so that the patients suffer from inferiority complexes and reduced self-esteem. As a rule, the patients’ bodies also require a longer period of time to fight the infections and inflammations. Life expectancy may be reduced due to the immunodeficiency. Treatment of the defect involves administering antibodies to the patient, which can relieve discomfort and symptoms. This treatment usually has to be lifelong, so that no consequential damage occurs. If infections or inflammations have already occurred, they are treated with antibiotics. There are no complications. Psychological complaints are treated by a psychologist.
When should you go to the doctor?
People who suffer from recurrent infections should talk to a doctor. Recurrent infections also indicate an immunodeficiency, which must be diagnosed and treated promptly. If further symptoms occur, a physician must be consulted immediately. People who already have a family history of immunodeficiency should see their family doctor for an examination. This is particularly necessary in the case of increasing complaints and a gradual decline in well-being, which suggests a serious illness. In the case of serious complications such as pneumonia or recurring infections, a hospital must be visited. In the event of a medical emergency, for example if the person loses consciousness or suffers from shortness of breath, an ambulance should be called. In case of doubt, the emergency medical service can be contacted first. Since an immunodeficiency cannot be treated causally, lifelong monitoring is required. In order to ensure optimally adjusted medication and to avoid complications, affected persons should speak regularly with their family doctor. Other contacts are specialists in internal medicine and pulmonary specialists.
Treatment and therapy
Therapy for primary immunodeficiencies usually involves regular lifelong administration of antibodies (immunoglobulins from healthy donors). In this way, many patients can be treated successfully. Immunoglobulin therapy can be administered in two ways. Either the immunoglobulins are injected directly into the vein or under the skin. In the case of a severe infection, a higher dose is given than in the case of a milder infection. Ideally, the infection rate of healthy people is achieved in this way. Patients must also take several drugs and antibiotics against bacteria and fungi, because immunoglobins cannot protect the body as much as real antibodies. If the immunodeficiency is caused by the patient’s life circumstances, life counseling or psychotherapy should be offered in addition to medications and vitamins. This can be in the form of nutritional, drug or stress avoidance counseling, or talk therapy. If the defect is due to a disease, therapy should be given to the underlying disease that is the main cause of the immune system disorder. In some patients with congenital immunodeficiencies, stem cell or bone marrow transplants can provide a permanent cure. This therapy is performed only in cases of severe immunodeficiency, without which the patient would otherwise die. A new form of therapy is gene therapy, in which an intact gene is inserted into the genetic material (DNA) to restore the function of the defective gene. This therapy is given only to patients with immunodeficiencies in whom all other treatment measures have failed.
Outlook and prognosis
In immunodeficiency, the prognosis depends on the type and severity of the immunodeficiency. In principle, early diagnosis improves the outlook for a symptom-free life. The more severe infections a patient overcomes, the more likely late complications are. Patients who respond positively to antibody treatment often make a full recovery. In contrast, severe immunodeficiencies can lead to serious complications, sometimes resulting in the patient’s death. The life expectancy of affected patients is usually reduced. Pathological susceptibility to infection that is not diagnosed and treated can be fatal even in childhood.During the developmental phase, permanent heart damage or immune disorders may also develop, which represent a permanent burden for the patients. To improve the prognosis, the family physician should be consulted in the event of increased susceptibility to infection. The physician can quickly diagnose an immune defect and improve the prospect of a relatively symptom-free life. Appropriate measures such as drug therapies and preventive protective measures can prevent the onset of a serious infection. In the case of a disease-related infection, such as can occur in the context of leukemia or HIV infection, the focus is on treating the causative disease.
Prevention
As preventive measures for congenital immunodeficiencies, early warning systems are important to enable timely treatment. In acquired immunodeficiencies, because of the higher susceptibility to infection, it is important to keep the risk of infection as low as possible. A healthy lifestyle with plenty of outdoor exercise, adequate sleep, stress avoidance, and good nutrition can positively influence or even prevent many immunodeficiencies.
Follow-up
Dealing with an immunodeficiency often extends over a long period of time. Here, therapy, aftercare, and prevention merge directly into one another. The earlier the diagnosis, the better the chances of living symptom-free. Frequent infections, on the other hand, can have long-term consequences, which is why regular check-ups with a doctor are essential. Early-warning systems are used to prevent the disease during follow-up care. Patients and their relatives should address the issue and closely monitor their increased susceptibility to infections. This also involves reducing the risk of infection. For affected families, the doctor recommends a health-conscious lifestyle with sufficient exercise and sleep, a balanced diet and stress avoidance. This basic framework has a positive impact on susceptibility and can prevent worse consequences. There are self-help groups for adults as well as for children. Here, those affected can exchange information and experiences and help each other. Children can also learn at an early age to integrate the therapy into everyday life and to take responsibility. For aftercare, there are relaxation techniques and breathing exercises, for example. Social contacts also help to boost self-confidence. This makes it easy to cope with everyday life, and sufferers feel more resilient.
What you can do yourself
There are quite a number of self-help groups that offer support to adults, but especially to children with immunodeficiencies and their parents. In Germany, for example, there is the Patient Organization for Congenital Immunodeficiencies e.V. The National Contact and Information Center for the Initiation and Support of Self-Help Groups NAKOS provides a database in which interested parties can search for regional self-help groups. Exclusions caused by such a disease, especially in children, make normal everyday life more difficult. In kindergarten and school, open discussion and appropriate handling can offer help. The teaching staff should be informed that the child in question may have frequent absences. This increases understanding and teachers and classmates show consideration. A sick child should take responsibility for certain areas of his or her therapy as early as possible. He or she can use learned relaxation techniques and perform breathing exercises. Singing lessons or membership in a choir stabilizes self-esteem and, just like sporting activity, enables social contacts to be made. Frequently offered patient training courses are suitable for dealing competently with one’s own illness and help to make everyday life easier.
