Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency is a rare genetic disorder caused by mutations in the ISG15 gene. This disorder is characterized by an increased susceptibility to mycobacterial infections, including tuberculosis, leprosy, and other mycobacterial diseases. People with this disorder are more likely to develop severe and recurrent infections, and may require long-term antibiotic treatment.

The symptoms of Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency include recurrent and severe infections with mycobacteria, such as Mycobacterium tuberculosis, Mycobacterium avium, and Mycobacterium abscessus. Symptoms may include fever, fatigue, weight loss, night sweats, and coughing. In some cases, the infection may spread to other organs, such as the lungs, liver, and bones.

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency is caused by mutations in the ISG15 gene. This gene encodes a protein called interferon-stimulated gene 15 (ISG15), which is involved in the innate immune response to viral and bacterial infections. Mutations in the ISG15 gene lead to a complete deficiency of the ISG15 protein, which results in an impaired immune response to mycobacterial infections. This impaired immune response leads to an increased susceptibility to mycobacterial diseases.

1. Antibiotic therapy: Treatment of Mendelian susceptibility to mycobacterial diseases due to complete ISG15 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 ISG15 deficiency.

4. Gene therapy: Gene therapy may be an option for individuals with complete ISG15 deficiency. This involves introducing a functional copy of the ISG15 gene into the patient’s cells, which can help restore the body’s

1. Immunodeficiency: Individuals with complete ISG15 deficiency are at an increased risk of developing Mendelian susceptibility to mycobacterial diseases due to their weakened immune system.

2. Age: Children and young adults are more likely to develop Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency than adults.

3. Genetics: Individuals with a family history of Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency are at an increased risk of developing the condition.

4. Exposure: Individuals who are exposed to mycobacteria, such as through contact with an infected person or animal, are at an increased risk of developing Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency.

At this time, there is no known cure or medication for Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency. Treatment typically involves supportive care and antibiotics to treat the underlying infection. In some cases, a bone marrow transplant may be recommended to replace the defective ISG15 gene.