B lymphocytes are immunological cells from the cell group lymphocytes. They form the basis for the specific humoral immune system of humans and are able to form antibodies after contact with a specific antigenic stimulus. Thus, they fulfill important tasks in the adaptive immune response, the basis of which they form.
Bruton-Gitlin syndrome is a hereditary disease that deprives B cells of the ability to produce and secret antibody. Thus, the syndrome is a form of immunodeficiency and is associated with a congenital disorder of the body's immune system. The disease was named after its original authors Ogden Carr Bruton and David Gitlin.
In various specialist literature Bruton-Gitlin syndrome is also referred to as Bruton's disease, Bruton's syndrome, Bruton-type agammaglobulinemia or congenital hypogammaglobulinemia. Among the immunodeficiencies, Bruton's disease is a mild form associated with a comparatively favorable prognosis. Since the Bruton-Gitlin syndrome is associated with an antibody deficiency, it is sometimes also attributed to the antibody deficiency syndromes.
The Bruton-Gitlin syndrome has its cause in the genes. The disease is transmitted X-linked recessive. Due to its binding to the male chromosome, immunodeficiency manifests itself primarily in male newborns. Unlike men, women have multiple X chromosomes.
If one of its X chromosomes is defective, the healthy chromosome can compensate for the defective chromosome. In men compensation of this kind is unthinkable, as they have only a single X chromosome available. If this chromosome in the sense of the syndrome is defective, this automatically leads to disease outbreak.
Women, on the other hand, can be silent carriers of Bruton-Gitlin syndrome without ever having symptoms. The immunological defect in the case of Bruton-Gitlin syndrome concerns tyrosine kinase, which plays a crucial role in the growth of immunological B cells. The disease causes stagnation in B-cell maturation.
The maturation stop of the pre-B cells results in the inability to physiologically planned production and secretion of antibodies. The primary cause of the hereditary disease is a receptor called brutone tyrosine kinase (BTK), which is encoded by the BTK gene on the X chromosome.
Bruton-Gitlin syndrome is a mild form of immunodeficiency. The first symptoms of the syndrome characteristically manifest in the second to third month of life. In this phase of life, the mother-transferred antibodies in a healthy infant body are gradually replaced with endogenous gamma globulins.
In most cases, the early symptoms of the disease are recurrent skin infections. Also infections of the respiratory tract can be symptomatic. The increased susceptibility to infection of those affected manifests itself most frequently in infections with bacteria such as staphylococci, Haemophilus influenzae or streptococci.
The defense reaction in contact with viruses, protozoa, fungi and Mycobacterium tuberculosis can be preserved in individual cases. Basically, there is a demonstrable antibody deficiency in patients with Bruton-Gitlin syndrome in all organs and in the blood. Unlike the men, women with the syndrome usually have no symptoms of the disease until the end of their lives.
For recurrent infections, the doctor usually assigns a differential blood picture. This blood count may be used to diagnose Bruton-Gitlin syndrome. Electrophoretic examination of the gamma-globulin fraction may strengthen suspected diagnosis of the syndrome.
The diagnosis is based on molecular genetic diagnosis, which confirms the genetic damage on the X chromosome. Compared with other immunodeficiencies, the prognosis is favorable for patients with Bruton-Gitlin syndrome. The syndrome is mild and rarely requires intervention such as bone marrow transplantation.
The Bruton-Gitlin syndrome must be treated by a doctor in any case. It usually does not come to a self-healing. Early diagnosis can avoid further complications. The doctor should be consulted if the child very often suffers from infections or inflammation. The children mainly suffer from skin complaints or flu. The symptoms can be very different in boys and girls.
Even in adulthood, the symptoms of this disease can occur. A doctor should also be consulted if the patient suffers from a significantly weakened immune system and often has infections. The diagnosis and treatment of this disease can be done in most cases by a pediatrician or a general practitioner. As a rule, those affected are dependent on a lifelong treatment. With the help of antibodies and stem cell transplants, however, the symptoms of Bruton-Gitlin syndrome can be relatively well restricted and alleviated.
Bruton-Gitlin syndrome can cause a variety of complications that are highly dependent on the severity of the syndrome. However, most patients suffer from immune deficiency and can not produce enough antibodies. Due to the lack of antibodies, many people suffer from infections and inflammation on the skin.
Also, patients are more likely to suffer from harmless infections and suffer from a reduced immune system. Bruton-Gitlin syndrome is much milder in women than in men. Women show almost no symptoms in this disease. The Bruton-Gitlin syndrome leads to limitations in the life of the patient as the immune system is weakened.
The disease is considered incurable, which is why treatment can only limit the symptoms. In this case, the patient is administered antibodies in the form of infusions. The affected person is dependent on these infusions throughout his life. The life expectancy is not reduced with a proper treatment and there are no further complications.
If the infusions have no effect, a stem cell transplantation is necessary. Deficits of the immune system can be compensated. Complications occur only in the form of infections and inflammation, in which the affected are more often ill.
Bruton-Gitlin syndrome is considered an incurable disease to date. Causal therapies are not available to the patients, as the causative genetic defects of the X chromosome are not reversible. Although the disease is currently not curable, some symptomatic treatment approaches are available to patients.
Affected individuals may be given a solution of the missing antibodies via subcutaneous or intravenous infusion. Antibody infusion of this type compensates for the lack of endogenous antibody-producing ability, which at least partially improves the humoral immune response. In more severe cases, stem cell transplantation may be necessary.
It is the transfer of stem cells from a donor organism to a recipient organism. Allogeneic transplantation of stem cells refers to hematopoietic, ie hematopoietic, stem cells. The first allogeneic stem cell transplants were performed in 1968 on several patients with hereditary immunodeficiency diseases. Since then, stem cell transplantation has been an established option for immunocompromised patients to compensate for severe immune deficiencies.
Since Bruton-Gitlin syndrome is a hereditary disease, it can only be symptomatically limited. For this reason, always a genetic counseling is advisable for the parents, if there is another desire to have children.
Patients rely on regular infusions of antibodies to relieve symptoms of the disease. A lifelong therapy is usually necessary, as a causal treatment of the syndrome can not take place. A transplantation of stem cells is only performed in severe cases, in which the infusions can not relieve the symptoms. However, this does not completely cure Bruton-Gitlin syndrome, so patients continue to need infusions and regular exams.
If the Bruton-Gitlin syndrome remains untreated, it usually comes to a significantly reduced life expectancy of the patient due to the weakened immune system. The affected are restricted in their everyday life and must protect themselves from various diseases. Especially the elderly can be severely affected by Bruton-Gitlin syndrome. Often, the syndrome also leads to mental discomfort, so that a psychological treatment may be necessary.
Because Bruton-Gitlin syndrome is a genetic disease, prevention options are limited. Exogenous factors are apparently not involved in disease development. Thus, genetic counseling in family planning has so far been the only promising preventive measure.
Genetic counseling also plays a role in the context of the disease for women who have no symptoms whatsoever. As silent carriers of the defect, they may inherit the disease from their offspring. Whether the decision against your own children falls, remains in each case up to you.
The possibilities of follow-up are relatively limited in Bruton-Gitlin syndrome. It is a congenital disorder that can not be treated causally but only symptomatically. Therefore, a complete cure can not be achieved, so that the person is dependent on a lifelong therapy and treatment to relieve the symptoms.
The antibodies are administered to the person affected by an infusion into the blood. The infusions should always be carried out regularly to avoid further complications and complaints. Likewise, the person concerned should not expose themselves to any special dangers or pathogens in order not to burden the immune system of the body unnecessarily.
In severe cases, the transplantation of stem cells is necessary to keep the person alive. In some cases, the life expectancy of the patient may be significantly reduced by the Bruton-Gitlin syndrome.
Not infrequently, the disease also leads to mental discomfort or depressive moods that can occur not only in the patient, but also in the relatives and friends and acquaintances. Usually, a visit to a psychologist is necessary, although contact with other people affected by Bruton-Gitlin syndrome can also have a positive effect on the course of the disease.
Since Bruton-Gitlin syndrome is an inherited genetic defect of the X chromosome, there are no therapies that could cure this disease. Self-healing is thus excluded. The symptoms can only be alleviated.
Early diagnosis of Bruton-Gitlin can prevent health complications. Typically, the first symptoms occur in two to three month old male infants. The antibodies transferred by the mother during pregnancy will be replaced with her own gamma globulins at this time.
The missing antibodies are delivered to the patient by means of infusions. This creates a temporary improvement of the immune system. In particularly severe cases of the disease, a stem cell transplant is performed. It will be transferred thereby hematopoietic stem cells. The life expectancy of patients is reduced due to the weakened immune system, the Bruton-Gitlin syndrome should not be treated.
Preventive supports genetic counseling in family planning. This includes both women and men. Although women often show no symptoms of Bruton-Gitlin, they can pass on the genetic defect to their own children. The counseling clarifies the risks of heredity and thus helps to decide for or against own children.