Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency is a rare genetic disorder that results in an increased susceptibility to infection by mycobacteria, such as Mycobacterium tuberculosis. People with this disorder have a complete deficiency of the IL12RB1 gene, which is responsible for producing the interleukin-12 receptor beta 1 protein. This protein is important for the body's immune response to mycobacterial infections, and without it, the body is unable to mount an effective defense against these infections.

The symptoms of Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency include recurrent and severe mycobacterial infections, such as tuberculosis, leprosy, and atypical mycobacterial infections. Other symptoms may include fever, night sweats, weight loss, fatigue, and anemia. In some cases, patients may also experience joint pain, skin rashes, and lymphadenopathy.

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency is caused by mutations in the IL12RB1 gene. This gene encodes the interleukin-12 receptor beta-1 subunit, which is a key component of the interleukin-12 signaling pathway. Mutations in this gene lead to a complete deficiency of the receptor, resulting in an inability to respond to interleukin-12 and an increased susceptibility to mycobacterial infections.

1. Antibiotic therapy: Treatment of Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency typically involves a combination of antibiotics, such as isoniazid, rifampin, ethambutol, and pyrazinamide.

2. Immunomodulatory therapy: Immunomodulatory therapy, such as interferon-gamma, may be used to help boost the immune system and reduce the risk of infection.

3. Vaccination: Vaccination against mycobacterial diseases is recommended for individuals with complete IL12RB1 deficiency.

4. Nutritional support: Nutritional support, such as vitamin D supplementation, may be beneficial for individuals with complete IL12RB1 deficiency.

1. Family history of Mendelian susceptibility to mycobacterial diseases
2. Immunodeficiency
3. Age (children and young adults are more likely to be affected)
4. Exposure to mycobacterial infections
5. Genetic mutations in the IL12RB1 gene
6. Low levels of interferon gamma (IFN-γ)
7. Low levels of interleukin-12 (IL-12)
8. Low levels of natural killer (NK) cells
9. Low levels of CD4+ T cells
10. Low levels of CD8+ T cells

At this time, there is no cure for Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency. However, there are medications that can help manage the symptoms and reduce the risk of complications. These medications include antibiotics, immunomodulators, and biologics. Additionally, lifestyle modifications such as avoiding contact with people who have active tuberculosis, getting vaccinated against tuberculosis, and avoiding contact with animals that may carry mycobacteria can help reduce the risk of infection.