Bruton’s Agammaglobulinemia

X-linked Agammaglobulinemia, or XLA for short, was the first immunodeficiency disease ever to be discovered. Ogden C. Bruton, the man who discovered it, was studying an eight-year-old boy in 1952 who had very confusing symptoms. He studied the boy for almost four years and was still confused by the randomness of his symptoms. The boy was getting many infections in these four years and Bruton could not figure out why until he decided to investigate the boy’s blood. He found that the boy was not producing the correct antibodies to fight off infection. After further research, Bruton was able to relate the symptoms back to the child’s genes. Long after Bruton had passed, the disease was studied in depth and found to be an X-linked genetic disorder effecting the antibody production in males. It was then named X-linked Agammaglobulinemia or, in memory of Ogden Bruton, Bruton’s X-linked Agammaglobulinemia.

Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.

The long arm...

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Works Cited

"Agammaglobulinemia: X-Linked." Immune Deficiency. American Academy of Allergy, Asthma & Immunology, 9 June 1986. Web. 20 Feb. 2014. .

Dugdale, David C., III. "Agammaglobulinemia: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, 26 May 2012. Web. 20 Feb. 2014. .

Schwartz, Robert A., MD. "Bruton Agammaglobulinemia ." Bruton Agammaglobulinemia. WebMD, n.d. Web. 15 Feb. 2014. .

"X-linked Agammaglobulinemia." - Genetics Home Reference. HONcode, Sept. 2008. Web. 19 Feb. 2014. .