BENTA disease is a rare, complicated, and dangerous genetic condition that results from a genetic mutation. BENTA stands for B Cell Expansion with NF-KB and T Cell Anergy but is always referred to as BENTA for obvious reasons. As a genetic condition, people who have BENTA disease are born with it, and they can’t contract it later in life.
BENTA disease is an autoimmune disease where the immune system mistakes organs and tissues in the body for foreign invaders. The immune system then attacks these entities, resulting in internal damage and lowered immune defences. Although extremely rare, there’s no known cure for BENTA disease, but there are potential treatments that can ease symptoms and increase quality of life.
BENTA disease affects everyone differently and will display different symptoms accordingly. Symptoms typically start during early childhood and stretch into the teenage years and into adulthood unless you receive treatment. Here are some of the most common symptoms of BENTA disease.
Because of the weakened immune system, people with BENTA disease are more prone to viruses, the flu, and bacterial infections. People with BENTA disease are most at-risk when they’re toddlers if they haven’t received a diagnosis. Once they start receiving treatment, people with BENTA disease typically show mild symptoms.
There is a risk, however, of developing leukaemia and other forms of cancer as a result of BENTA disease because of the high number of B-cells they have.
BENTA disease is a genetic condition that people have from birth. This mutation to the CARD11 gene stems from a problem with the hermatozygous gain-of-function.
There are no known risk factors for BENTA disease, as researchers aren’t totally sure why some people have the genetic mutation that causes the disease and others don’t. The mutation gets passed from parents to their children, and each child has a 50% chance of getting the mutation if one of their parents is a carrier. This mutation functions in a unique way where a parent who is a carrier can pass the gene mutation on to one child and not another in the same family.
Autoimmune Lymphoproliferative Syndrome (ALPS)
Caspase Eight Deficiency State (CEDS)
CARD9 Deficiency And Other Syndromes Of Susceptibility To Candidiasis
Chronic Granulomatous Disease (CGD)
Common Variable Immunodeficiency (CVID)
Congenital Neutropenia Syndromes
Hyper-Immunoglobulin E Syndromes
Hyper-Immunoglobulin M Syndromes
Interferon Gamma, Interleukin 12 And Interleukin 23 Deficiencies
Leukocyte Adhesion Deficiency (LAD)
PLCG2-Associated Antibody Deficiency And Immune Dysregulation (PLAID)
Severe Combined Immunodeficiency (SCID)
STAT3 Dominant Negative Disease (STAT3DN)
STAT3 Gain-Of-Function Disease (STAT3 GOF)
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis (WHIM) Syndrome
Wiskott-Aldrich Syndrome (WAS)
X-Linked Agammaglobulinemia (XLA)
X-Linked Lymphoproliferative Disease (XLP)
Immunodeficiency Disease Medications
The main way that doctors diagnose BENTA disease is by conducting laboratory studies on blood samples from a potentially afflicted person. Blood tests will show elevated numbers of mature B cells and transitional B cells. Blood tests may also show low counts of certain antibodies, such as IgM and IgA.
Your doctor will also consider the symptoms you’re displaying. An enlarged spleen and enlarged lymph nodes accompanied by blood irregularities are a distinctive sign of BENTA disease.
Unfortunately, there’s no known cure for BENTA disease. While there’s no established regimen or treatment for BENTA disease, there are several treatment options that can help manage the symptoms and reduce the risk of complications.
Many people with BENTA disease undergo surgery to remove their spleen (splenectomy.) Removing the enlarged spleen can potentially eliminate B-cell related problems with BENTA disease.
The use of medications and immunosuppressive drugs is experimental but could potentially help with BENTA disease. There’s currently no proof, however, that these drugs are effective at treating the disease.
For the most part, your doctor will treat symptoms of BENTA disease as they appear, because of the limited overall treatment options.
If you receive an early diagnosis of BENTA disease and seek treatment immediately, most people with the condition live fairly normal lives. However, your outlook is dependent on the success of the treatments in question, and varies from person to person.