A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection

Article Abstract:

A mutation in the gene for the receptor for interferon-gamma appears to confer an increased risk of infection with a species of bacterium called Mycobacteria. Researchers used various methods to analyze the genes of four children from a small Malta village who were related to each other. They had severe infections and three died despite treatment. All four had a mutation on chromosome 6 in the region of the gene for the interleukin-gamma receptor. A defect in the receptor would cause immune cells called macrophages to be unresponsive to interferon-gamma. The macrophages would then be unable to kill the bacteria.

Interferon gamma, Mycobacterial infections, Mycobacterium infections, Disease susceptibility

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The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor

Article Abstract:

Atopic allergies may be related to a genetic mutation. Atopy is an allergic hypersensitivity associated with increased release of the IgE antibody. People with atopy react immediately to allergens like mold, dust mites and pet dander. Researchers found a defect in the interleukin-4 alpha receptor, which plays a key role in the production of IgE. The Q576R mutation was common in patients with hyper-IgE syndrome and atopic dermatitis, and it was found in 13 of 20 study people with atopy and 5 of 30 without. This mutation may make people more susceptible to the development of allergies.

Physiological aspects, Allergy, Interleukin-4

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Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor

Article Abstract:

Three boys with precocious puberty were found to have mutations in the gene for the luteinizing hormone receptor. Luteinizing hormone is a reproductive hormone. The boys were found to have Leydig cell adenomas, which is a type of testicular tumor. Leydig cells are cells in the testis that produce the male sex hormone testosterone. The gene mutation caused excessive amounts of testosterone, which caused their premature sexual development.

Testicular cancer

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