In 1966, Job’s syndrome was first mentioned in a publication. Since then, scientists have been researching the trigger and still cannot come up with a conclusive result.
What is Job’s syndrome?
Job, a man from the Bible, is considered the eponym of this syndrome. The also frequently used synonym Buckley syndrome exists since 1972. At that time it was a Mr. Buckley, who summarized the results from the observation of quite a few patients and described them in a publication. Since only certain genes are affected and the symptoms can occur in the entire body, Job’s syndrome is also called a multi-system disease. Genetically determined and also chronically progressing, there is a high level of suffering in those affected. The first signs of the disease can appear just a few days after birth. The term Hyper-IgE Syndrome or HIES is used in the specialist literature. The reason is an increased concentration of immunoglobulin E, which can be detected in blood tests. However, this high accumulation alone is not considered a trigger for symptoms.
Causes
There are no external causes for the disease. It is a genetic defect that allows the formation of protein only to a limited extent or not at all. Not all regions of the body are affected, and the symptoms of the disease also vary. The fact is that genes whose function is to control the body’s immune cells are responsible. Researchers have so far been able to identify only one gene, and this is STAT-3, which is significantly involved in the formation of defense mechanisms in the lungs and on the skin. In addition, it effectively combats inflammation via the bloodstream. There are families in which Job’s syndrome occurs more frequently and can be regarded as a hereditary disease. In other cases, only one family member is affected. A fetus will only develop the disease if both parents carry the defective gene.
Symptoms, complaints, and signs
Common complaints are permanently recurring inflammations with the formation of abscesses. They occur on the skin and in soft tissues. Pneumonia is also common, as are skin disorders such as those associated with atopic dermatitis. Pneumonias show the formation of cyst-like cavities in the lungs as the disease progresses. This means that their ability to function is restricted. The fact that even infants suffer from itchy and weeping eczema shows how serious the disease is. Often a pronounced milk crust appears, which means an additional burden for the little ones. In addition to these symptoms, changes in the connective tissue also occur. The first teeth may not fall out or the face may show abnormalities. The forehead is strongly accentuated and the skin is noticeably open pored. Abscesses on lymph nodes and in the liver are also mentioned as a common sign. Patients often have bone fractures, usually involving the long bones and ribs. Spinal curvature (scoliosis) occurs in about 20 percent of sufferers.
Diagnosis and course of the disease
A HIES score has been developed to help physicians make the diagnosis. This is a scale on which the patient’s symptoms are recorded. Through a scoring system, the physician is then able to make a definite diagnosis. A blood test can be used to detect changes in the STAT-3 gene. It is particularly important here to rule out other chronic diseases, such as cystic fibrosis.
Complications
Job’s syndrome causes inflammation in various parts of the body. These can complicate the daily life of the affected person and, in the worst case, can lead to death. Since the inflammations can form in different places, the complications cannot be predicted in general. The affected person regularly suffers from pneumonia, which can lead to severe breathing difficulties and, without treatment, even to death. Furthermore, bone fractures occur easily and the affected person feels sick and weak. It is not uncommon for the so-called scoliosis to occur. The affected person also suffers from deformities in the face, so that, for example, the forehead is relatively strongly emphasized. This can lead to aesthetic restrictions in the patient, from which depression or other psychological complaints can develop. It is not uncommon for children in particular to suffer from bullying and teasing.Job’s syndrome cannot be treated causally, so only symptomatic treatment is possible. Although no particular complications occur, the affected person is dependent on many treatments and doctor’s visits, from which psychological complaints can also arise. Cosmetic discomfort can usually be treated with the help of surgical procedures.
When should one go to the doctor?
If there are recurrent abscesses, swellings or skin bleeding, a doctor must be consulted. Medical advice is needed at the latest when the complaints increase in intensity or other symptoms appear. For example, signs of neurodermatitis should be clarified by a doctor immediately. Job’s syndrome manifests itself through unspecific symptoms, which is why it cannot be diagnosed by those affected themselves. For this reason, the patient should go to the family doctor immediately if he or she shows any of the above-mentioned signs. Parents who suffer from Job’s syndrome themselves or have cases of the disease in their relatives should have their child examined after birth. Ideally, the disease is detected in the womb. In any case, children suffering from the rare genetic disease require comprehensive medical monitoring and treatment. Parents should seek specialist advice if they experience any unusual symptoms and, if in doubt, visit the nearest specialist clinic. In case of serious complications, such as pneumonia or bone fractures, the affected child must be treated immediately in a hospital.
Treatment and therapy
So far, treatment consists mainly of prevention. There are no medications to combat it. Prophylaxis includes regular inhalations followed by tapping of the lungs. In this way, even infants cough up well and the risk of inflammation is reduced. For children whose milk teeth do not fall out, it is important to have them extracted. Otherwise, there is a risk that the permanent dentition will not grow back normally. Meanwhile, there is the approach that infusions with antibodies are administered. To keep complications of eczema low, skin care is very important. Ointment that kills fungi and moisturizing creams should be applied several times a day. Now and then, treatment with cortisone ointments is also unavoidable. Spinal curvatures often show up in a pelvic obliquity. Here, prevention means that those affected compensate for the deficiency with insoles or heel raises and the risk of scoliosis is reduced. Regular monitoring by specially trained doctors is important. Only they can judge when antibiotic therapies or surgical interventions (opening an abscess) are necessary. Because patients are at increased risk for lymphatic cancer, regular monitoring is also a priority.
Outlook and prognosis
As a hereditary disease, Job’s syndrome has no causal cure. However, the symptoms are treatable. Patients can live to about 50 years of age if they are well cared for and the disease is recognized early in infancy. However, an accurate prognosis can only be given by the treating physician who knows the patient and the course of the disease. Provided that no or only minor complications occur and the respiratory tract is largely spared, Job’s syndrome has a fairly good prognosis and the quality of life of the affected person is also only slightly restricted. If late complications occur in old age, they have a negative impact on the prognosis and, depending on the patient’s state of health and the severity of the complication, can in the worst case lead to death. For example, if malignant lymphoma occurs as a result of Job’s syndrome, the prognosis is determined by the stage and spread of the lymphoma, and the patient’s lifespan is usually significantly shortened by such a late complication. The anomalies of the teeth, which are typical for Job’s syndrome, can also have a negative effect on the prognosis, as they can prevent the affected person from eating sufficiently and with pleasure. Especially when the general condition deteriorates again, some affected persons refuse to eat and thus naturally do not contribute to a rapid improvement of their condition. Especially in such complex cases, good care can have a significant impact on the prognosis.
Prevention
Since Job’s syndrome is not caused by external influences, there are no preventive measures. For young people who want to start a family, there are laboratories that perform genetic diagnosis.This means that the persons concerned have their blood anlysed. This measure is important if Job’s syndrome has occurred in the family. Prenatal diagnosis is then also possible. As with all autoimmune diseases caused by genetic defects, it is unfortunately the case that these only become visible after birth. Parents of a child with the disease should not have any offspring. The risk is too great that he will also be affected. The fatal aspect of the disease is shown by the fact that new mutations occur in the genes again and again. Therein lies probably also the reason that there is so far no vaccine against the Job syndrome.
Follow-up
In Job syndrome, follow-up care measures are severely limited. Because it is a congenital and therefore a genetic disease, the syndrome cannot be completely cured. Should the affected person wish to have children, genetic testing and counseling is recommended to prevent the recurrence of this disease. In general, early diagnosis of Job’s syndrome has a very positive effect on the further course of the disease. The treatment of this disease is mostly done by taking medications and using creams. It is important to pay attention to a correct and regular intake and application, and in case of questions or ambiguities should always consult a doctor first. Also, in case of side effects and other interactions, always contact a doctor first. If Job’s syndrome is treated with the help of antibiotics, the affected person should make sure that these should not be taken together with alcohol. A healthy lifestyle with a healthy diet also has a positive effect on the course of this disease. In many cases, regular check-ups by a doctor are necessary to prevent other complications.
What you can do yourself
With Job’s syndrome, sufferers need to keep a few things in mind to relieve symptoms and avoid possible complications. Since Job’s syndrome prevents the milk teeth from falling out in most cases, children need to have them extracted. Usually, this procedure is not associated with pain and can allow the usual growth of the dentition. Strict skin care is also necessary in Job’s syndrome to prevent infections and inflammations. Hygiene standards should be observed and various creams or ointments should be used. Especially in case of fungal infections, immediate treatment is necessary. Since patients often suffer from bone fractures due to the disease, several injuries must be prevented. For this reason, dangerous sports should not be performed. Unfortunately, Job’s syndrome can also significantly increase the risk of lymph node cancer, so that those affected are dependent on regular examinations in this case in order to avoid a reduced life expectancy. In the case of lung infections, however, a doctor should always be consulted. Above all, when Job’s syndrome occurs in a child, parents should conduct regular examinations with various specialists in order to limit the symptoms and discomfort of this disease.
