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Tuberculosis (TB) is an infectious disease that attacks the lungs. TB is spread through the air when an infected individual coughs or sneezes. While treatable, tuberculosis is still a deadly disease, killing upwards of 50% of infected individuals.
Classic TB symptoms include:
- Chronic coughing
- Frequently coughing up blood
- Night sweats
- Weight loss.
A simple skin test can be used to detect the presence of latent TB, although a chest x-ray is generally required for full diagnosis.
Tuberculosis, caused by infection with Mycobacterium tuberculosis, is a major health concern worldwide, infecting over 8 million individuals and killing 2 million individuals annually. Epidemiological studies reveal that inter individual variability exists, with 20% of individuals lacking a positive reaction to the tuberculin test in spite of exposure. In addition, only about 10% of infected individuals progress to develop clinical symptoms. Finally, two different clinical forms of the disease exist. In young children, disease dissemination is due to early spread of the bacterium after primary lung infection. In adults, the infection is typically contained within the lungs and is the result of reactivation of the disease from a prior latent primary infection.
Treatment is still quite difficult, requiring the use of several antibiotics. This has been further hampered by the presence of antibiotic resistant strains of TB developing over the past several years. It has been estimated that about 1% of the world’s population contracts TB annually, but the distribution is not even. For example, TB is far more prevalent in developing nations. As many as 80% of the population in some parts of Africa and Asia are infected, while only 5-10% of the population in the US. One of the major reasons for this disparity is the prevalence of high rates of HIV infection in developing nations.
Tuberculosis has existed for millennia, and its presence can be detected in some Egyptian mummies. The tuberculosis bacillus was discovered in 1882 by Dr. Robert Koch, who later received the Nobel Prize in medicine for this discovery.
Research on TB
According to Stop TB Partnership, research has indicated that tuberculosis infection is subject to genetic influences, particularly those involving immunodeficiency. Studies involving individuals with Mendelian susceptibility to mycobacterial diseases (MSMD), a syndrome in which patients are highly susceptible to weakly virulent mycobacteria but resistant to other infectious agents, revealed mutations in five genes. These genes are involved in interleukin 12 (IL-12)-dependent, interferon-gamma-mediated immunity. Deficiencies in expression of either of these proteins correlated with the development of tuberculosis in individuals living in endemic areas and between the ages of 2.5 and 12 years. In addition, IL-12 receptor beta 1 deficiencies among children from unrelated families were found to be associated with disseminated tuberculosis infection, suggesting that such individuals have a Mendelian predisposition to the illness.