Definition
NFKB1 is the name of an important gene for immune system function. This gene produces a protein that plays a central role in the body's response to infection and inflammation. It is part of the NF-kB pathway, a key mechanism that helps trigger and regulate immune responses.
When the NFKB1 gene is mutated, this mechanism can be disrupted. This can result in a weakened immune system, making the body more vulnerable to infection, or, conversely, lead to excessive inflammatory reactions.
Physiopathology
Mutations in NFKB1 can render the protein produced by this gene less efficient or dysfunctional. As a result :
- Immune deficiency: The body may have difficulty fighting infections.
- Chronic inflammation: the immune system may overreact, even in the absence of a threat, causing damage to healthy tissue.
Clinical
Symptoms of NFKB1 mutation-related diseases can vary from person to person, but the most common include:
- Repeated infections: especially respiratory, ENT or digestive infections.
- Chronic fatigue: due to prolonged inflammatory responses.
- Autoimmune disorders: The immune system attacks healthy tissue, causing diseases such as lupus, thyroiditis or inflammatory bowel disease.
- Digestive problems: Abdominal pain, diarrhea or inflammation.
- Skin signs: redness, patches or lesions.
Diagnostic
Diagnosis is based on several stages:
1. Observation of symptoms: repeated infections or autoimmune signs may arouse suspicion.
2. Blood tests: to measure inflammation markers or detect abnormalities in immune cells.
3. Genetic analysis: confirms the presence of a mutation in the NFKB1 gene.
4. Complementary examinations: such as imaging (MRI, CT scan) or biopsy to assess the organs affected.
Evolution
Diseases linked to NFKB1 mutations are rare, but appropriate management can help control symptoms and improve quality of life.
Treatment
There is no cure for diseases linked to NFKB1 mutations, but various approaches can help manage symptoms and prevent complications:
- Antibiotics or antivirals: to treat or prevent recurrent infections.
- Immunosuppressants: In the case of immunological diseases, these drugs help to calm inflammatory reactions.
- Biotherapies: Targeted treatments can modulate the immune response.
- Vaccination: adapted to protect patients against certain infections.
Medical follow-up is essential to adapt treatments as the disease evolves.
Living with illness
Here are a few tips to improve your quality of life:
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Regular medical check-ups: See your doctor frequently to monitor your health.
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Adopt a healthy lifestyle: Eat a balanced diet, get enough sleep and take moderate exercise to strengthen your body.
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Prevent infections: Wash your hands often and avoid crowded places during epidemics.
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Psychological support: Chronic illnesses can be difficult to cope with. Don't hesitate to talk to a professional or join a support group.
If you have symptoms or a family history of this disease, you can consult the CEREMAIA at Tenon. With the support of our expert team, you can better understand and control this rare disease.