BENTA disease
BENTA Disease
BENTA disease (pronounced: ben-ta) is a rare, genetic disorder that affects the immune system. The name BENTA is an acronym for the main features of the disease: B-cell Expansion with NF-κB and T-cell Anergy.
Etymology
The term "BENTA" is derived from the first letters of the main features of the disease: B-cell Expansion with NF-κB and T-cell Anergy. The disease was first described in 2013 by researchers at the National Institutes of Health (NIH).
Symptoms
The symptoms of BENTA disease can vary widely among affected individuals. They may include an enlarged spleen (splenomegaly), recurrent infections, and an increased risk of developing autoimmune disorders and certain types of cancer. Some people with BENTA disease may also have low numbers of certain types of white blood cells (lymphopenia) and platelets (thrombocytopenia).
Causes
BENTA disease is caused by mutations in the CARD11 gene. This gene provides instructions for making a protein that plays a crucial role in the immune system, particularly in the function of B cells and T cells.
Diagnosis
Diagnosis of BENTA disease is based on the presence of characteristic clinical features, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Genetic testing can confirm a diagnosis.
Treatment
There is currently no cure for BENTA disease. Treatment is symptomatic and supportive, and may include regular monitoring, management of infections, and in some cases, immunosuppressive therapy.
Prognosis
The long-term outlook for people with BENTA disease is variable, depending on the severity of the symptoms and the individual's response to treatment.
See also
External links
- Medical encyclopedia article on BENTA disease
- Wikipedia's article - BENTA disease
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