Bruton's syndrome

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The Bruton's syndrome (also Bruton called) is a genetically determined immunodeficiency and among a particular form of agammaglobulinemia , which was originally described in 1952 by the pediatrician Ogdon Bruton and is characterized by recurrent bacterial infections. One also speaks of Bruton's agammaglobulinaemia . In people with Bruton's syndrome, antibodies do not form due to a lack of certain immune cells called B lymphocytes . The disease is inherited in an X-linked recessive manner, which means that it occurs almost only in men, as, unlike women, they only have one X chromosome . However, women can be healthy carriers (so-called carriers ) of the defective gene and thus pass the disease on to their children.

Cause of the Bruton's syndrome have mutations in BTK - gene , which for the Bruton's tyrosine kinase encoded a central role in the differentiation of B cells plays.

The increased susceptibility to infection manifests itself in diseases caused by bacteria such as staphylococci , streptococci and Haemophilus influenzae . The defense reaction against many viruses, fungi, protozoa and Mycobacterium tuberculosis (functioning cellular defense by T-lymphocytes unaffected by the disease ) is partially retained. The disease is currently not curable, but it is treatable. Antibodies are administered to the patient by subcutaneous or intravenous administration, whereby the lack of endogenous antibody formation (the lack of humoral immune response ) can be partially compensated.

Individual evidence

  1. ^ Bruton's syndrome.  In: Online Mendelian Inheritance in Man . (English)

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