What is Bruton-Gitlin Syndrome?

The Bruton-Gitlin syndrome is an immune deficiency that increases the ability to produce and secrete the B cells of the immune system antibodies and therefore the antibody deficiency syndromes can be attributed. The mostly mild disease is inherited in an X-linked recessive manner and is based on a defect in the BTK gene. Antibody infusions or stem cell transplants can be used for symptomatic treatment.

What is Bruton-Gitlin Syndrome?

B lymphocytes are immunological cells from the lymphocyte cell group. They form the basis for the specific humoral immune system of humans and are able to form antibodies after contact with a certain antigenic stimulus. They thus fulfill important tasks in the adaptive immune response on which they form the basis.

Bruton-Gitlin syndrome is a hereditary disease that robs B cells of the ability to produce and secrete antibodies. The syndrome is a form of immunodeficiency and is associated with an innate disorder of the body’s immune system. The disease was named after Ogden Carr Bruton and David Gitlin, who first described it.

In various specialist literature, instead of Bruton-Gitlin syndrome, Bruton’s disease, Bruton’s syndrome, agammaglobulinaemia of the Bruton type or congenital hypogammaglobulinaemia are also mentioned. Bruton’s disease is a milder form of immune deficiency that is associated with a comparatively favorable prognosis. Since Bruton-Gitlin syndrome is associated with an antibody deficiency, it is sometimes also classified as an antibody deficiency syndrome.


Bruton-Gitlin syndrome is genetic. The disease is passed on in an X-linked recessive manner. Due to their attachment to the male chromosome, immunodeficiency manifests itself primarily in male newborns. Unlike male individuals, women have multiple X chromosomes.

If one of your X chromosomes is defective, the healthy chromosome can compensate for the defective chromosome. This type of compensation is unthinkable in men, as they only have a single X chromosome available. If this chromosome is defective in the sense of the syndrome, this automatically leads to the outbreak of the disease.

Women, on the other hand, can be silent carriers of Bruton-Gitlin syndrome without ever suffering from symptoms. In the case of Bruton-Gitlin syndrome, the immunological defect affects the tyrosine kinase, which plays a decisive role in the growth of immunological B cells. Because of the disease, B-cell maturation stagnates.

The stop of maturation of the pre-B cells leads to the inability for the physiologically planned production and secretion of antibodies. The primary cause of the hereditary disease is a receptor called Bruton’s tyrosine kinase (BTK), which is encoded by the BTK gene on the X chromosome.

Symptoms, ailments & signs

Bruton-Gitlin syndrome is a rather mild form of the immune deficiency. The first symptoms of the syndrome typically manifest themselves in the second to third month of life. In this phase of life, the antibodies transferred from the mother are gradually replaced in a healthy infant body with the body’s own gamma globulins.

In most cases, the early symptoms of the disease are recurrent skin infections. Infections of the respiratory tract can also be symptomatic. The increased susceptibility of those affected is most often expressed 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 maintained in individual cases. Basically, for patients with Bruton-Gitlin syndrome, there is a demonstrable lack of antibodies in all organs of the body as well as in the blood. Unlike men, women with the syndrome usually do not show any symptoms of the disease until the end of their lives.

Diagnosis & course

In the case of recurring infections, the doctor usually orders a differential blood count. This blood count can lead to the diagnosis of Bruton-Gitlin syndrome. An electrophoretic examination of the gamma globulin fraction can strengthen the suspected diagnosis of the syndrome.

Molecular genetic diagnostics, which confirm the genetic damage on the X chromosome, are used to confirm the diagnosis. Compared to other immune deficiencies, the prognosis for patients with Bruton-Gitlin syndrome is favorable. The syndrome is mild and rarely requires measures such as a bone marrow transplant.

When should you go to the doctor?

Bruton-Gitlin syndrome definitely needs to be treated by a doctor. As a rule, there is no self-healing. With an early diagnosis, further complications can be avoided. The doctor should be consulted if the child falls ill with infections or inflammation very frequently. The children mainly suffer from skin problems or the flu. The symptoms can be very different in boys and girls.

Symptoms of this disease can also occur in adulthood. A doctor should also be consulted if the patient has a significantly weakened immune system and is more likely to suffer from infections. Diagnosis and treatment of this disease can in most cases be done by a pediatrician or a general practitioner. As a rule, however, those affected are dependent on lifelong treatment. With the help of antibodies and stem cell transplants, however, the symptoms of Bruton-Gitlin syndrome can be limited and alleviated relatively well.


Bruton-Gitlin syndrome can lead to various complications, which depend heavily on the severity of the syndrome. However, most patients suffer from an immunodeficiency and cannot produce enough antibodies. Due to the lack of antibodies, many sufferers develop infections and inflammations on the skin.

The patients are also more likely to suffer from harmless infections and a reduced immune system. Bruton-Gitlin syndrome is much milder in women than in men. Women show almost no symptoms with this disease. Bruton-Gitlin syndrome leads to restrictions in the patient’s life because the immune system is weakened.

The disease is considered incurable, which is why treatment can only narrow down the symptoms. Antibodies are administered to the patient in the form of infusions. The person concerned is dependent on these infusions for their entire life. Proper treatment does not reduce life expectancy and there are no other complications.

If the infusions show no effect, a stem cell transplant is necessary. Deficits in the immune system can be compensated for. Complications only occur in the form of infections and inflammations, which those affected are more likely to suffer from.

Treatment & Therapy

Bruton-Gitlin syndrome is currently considered an incurable disease. Causal therapies are not available to patients because the causal genetic defects of the X chromosome cannot be revised. Although there is currently no cure for the disease, some symptomatic treatment approaches are available to patients.

A solution of the missing antibodies can be given to people via an infusion through a subcutaneous or intravenous line. Antibody infusions of this kind can compensate for the body’s lack of ability to produce antibodies, which at least partially improves the humoral immune response. In more severe cases, a stem cell transplant may be necessary.

This involves the transfer of stem cells from a donor organism to a recipient organism. The allogeneic transplantation of stem cells refers to hematopoietic, i.e. blood-forming stem cells. The first allogeneic stem cell transplants were carried out 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.

Outlook & forecast

Since Bruton-Gitlin syndrome is a hereditary disease, it can only be limited symptomatically. For this reason, genetic counseling is always advisable for parents if they want to have children again.

Patients depend on regular infusions of antibodies to relieve the symptoms of the disease. As a rule, lifelong therapy is necessary because the causal treatment of the syndrome cannot take place. A stem cell transplant is only carried out in severe cases in which the infusions cannot alleviate the symptoms. However, this does not completely cure Bruton-Gitlin syndrome, so that patients continue to need infusions and regular examinations.

If the Bruton-Gitlin syndrome is left untreated, the patient’s life expectancy is usually significantly reduced due to the weakened immune system. Those affected are restricted in their everyday life and have to protect themselves from various diseases. Older people in particular can be severely affected by Bruton-Gitlin syndrome. Often the syndrome also leads to psychological complaints, so that psychological treatment may also be necessary.


Since Bruton-Gitlin syndrome is a genetic disease, the prevention options are limited. Exogenous factors do not appear to be involved in the development of the disease. Thus, genetic counseling in family planning has so far been seen as the only promising preventive measure.

In the context of the disease, genetic counseling also plays a role for women who do not show any symptoms. As the silent carriers of the defect, they may pass the disease on to their offspring. It is up to you in each individual case whether you decide against your own children.


Follow-up care options are relatively limited in Bruton-Gitlin syndrome. It is a congenital disease that cannot be treated causally, but only symptomatically. A complete cure can therefore also not be achieved, so that the person affected is dependent on lifelong therapy and treatment to alleviate the symptoms.

The antibodies are given to the person through an infusion into the blood. The infusions should always be carried out regularly in order to avoid further complications and discomfort. Likewise, the person concerned should not expose himself to any particular dangers or pathogens in order not to unnecessarily burden the immune system of the body.

In severe cases, stem cell transplants are also necessary to keep those affected alive. In some cases, Bruton-Gitlin syndrome can significantly reduce the patient’s life expectancy.

Not infrequently, the disease also leads to psychological complaints or depressive moods, which can occur not only in the patient, but also in the relatives and friends and acquaintances. This usually requires a visit to a psychologist, although contact with other sufferers of Bruton-Gitlin syndrome can also have a positive effect on the course of the disease.

You can do that yourself

Since Bruton-Gitlin syndrome is an inherited, genetic defect in the X chromosome, there are no therapies that can cure this disease. Self-healing is therefore impossible. The symptoms that occur can only be alleviated.

An early diagnosis of Bruton-Gitlin can prevent health complications. Typically, the first symptoms appear in male babies aged two to three months. The antibodies transferred from the mother during pregnancy are replaced with her own gamma globulins at this point.

The missing antibodies are given to the patient with the help of infusions. This creates a temporary improvement in the immune system. In particularly severe cases of the disease, a stem cell transplant is performed. Blood-forming stem cells are transferred in the process. The life expectancy of patients is reduced due to the weakened immune system if Bruton-Gitlin syndrome should not be treated.

Genetic counseling provides preventive support in family planning. This includes both women and men. Although women often show no symptoms with Bruton-Gitlin, they can pass the genetic defect on to their own children. The advice here explains the risks of inheritance and thus helps you to decide for or against your own children.

Bruton-Gitlin Syndrome