While at Walter Reed during his second tour, Bruton studied an 8 year-old boy, Joseph S. Holtoner, Jr., who had recurrent pneumonia infections and who lacked gamma globulin in his serum. This type of agammaglobulinemia is now called Bruton's syndrome or X-linked agammaglobulinemia, which was later found by others to be an X-linked congenital condition. The gene defect has since been mapped to the gene code for Bruton tyrosine kinase (Btk), at band Xq21.3.[3][6]
Dr. Bruton wrote to medical schools in the United States of America that had a pediatric service to ask if they had any such patients with agammaglobulinemia. His findings were published in June 1952 in the journal "Pediatrics".[7] Dr. Bruton was also the first physician to provide specific immunotherapy for this X-linked disorder by administering intramuscular injections of IgG immunoglobulin. Time magazine featured Dr. Bruton and his medical discovery in the May 18, 1953 issue.[3][6] There is also a milder form of X-linked congenital Swiss-type agammaglobunemia referred to as Bruton-Gitlin syndrome. It is characterized by decreased amounts of humoral gammaglobulin in serum, with cellular functional deficiencies as well. There is also a defect in the Btk gene in this condition.
While at Walter Reed during his second tour, Bruton studied an 8 year-old boy, Joseph S. Holtoner, Jr., who had recurrent pneumonia infections and who lacked gamma globulin in his serum. This type of agammaglobulinemia is now called Bruton's syndrome or X-linked agammaglobulinemia, which was later found by others to be an X-linked congenital condition. The gene defect has since been mapped to the gene code for Bruton tyrosine kinase (Btk), at band Xq21.3.[3][6]
Dr. Bruton wrote to medical schools in the United States of America that had a pediatric service to ask if they had any such patients with agammaglobulinemia. His findings were published in June 1952 in the journal "Pediatrics".[7] Dr. Bruton was also the first physician to provide specific immunotherapy for this X-linked disorder by administering intramuscular injections of IgG immunoglobulin. Time magazine featured Dr. Bruton and his medical discovery in the May 18, 1953 issue.[3][6] There is also a milder form of X-linked congenital Swiss-type agammaglobunemia referred to as Bruton-Gitlin syndrome. It is characterized by decreased amounts of humoral gammaglobulin in serum, with cellular functional deficiencies as well. There is also a defect in the Btk gene in this condition.
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