BENTA disease

BENTA disease is a very rare congenital immune deficiency disorder that affects the body’s ability to fight infections. It is characterized by an abnormal expansion of B cells and a lack of proper T cell response, which means that people with this condition have an immune system that does not work properly. The condition often presents with an enlarged spleen (splenomegalia) and frequent infections of the ear, sinuses, and lungs. In some cases, individuals may also experience skin lesions such as molluscum contagiosum or have chronic Epstein-Barr virus (EBV) infections. Blood tests typically show very high numbers of B cells and a reduction in memory B cells, as well as low levels of IgM and poor responses to vaccines.

Common symptoms of BENTA disease include an enlarged spleen, and recurrent infections affecting the ears, sinuses, and lungs. Some patients may also develop skin lesions like molluscum contagiosum or have chronic Epstein-Barr virus infections. Blood tests can reveal very high numbers of polyclonal B cell lymphocytes and low levels of memory B cells and IgM.

BENTA disease is caused by mutations in the CARD11 gene. These genetic changes affect the immune system, leading to an abnormal increase in B cell numbers and a reduction in key immune responses. The condition is congenital, meaning it is present from birth.

There is currently no established treatment for BENTA disease. Some patients have undergone a splenectomy (removal of the spleen) to manage symptoms, and there is one reported case of a hematopoietic stem cell transplantation that showed good results. Treatment plans are tailored individually based on the symptoms and needs of each person with the condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.