Choroba Eb

Choroba Eb: A Rare and Severe Immune Deficiency

What is Choroba Eb?

Choroba Eb, also known as hypogammaglobulinemia and agammaglobulinemia, is a rare genetic disorder that affects the immune system. It is characterized by a deficiency of antibodies, which are proteins that help the body fight off infections. Choroba Eb is caused by mutations in the X-linked Bruton agammaglobulinemia gene (BTK), which is located on the X chromosome.

Choroba Eb is a very rare disorder, affecting approximately 1 in 100,000 males. It is typically diagnosed in early childhood, when a child fails to produce normal levels of antibodies.

Symptoms of Choroba Eb

Symptoms of Choroba Eb include:

• Frequent and severe infections, such as pneumonia, meningitis, and sepsis
• Delayed growth and development
• Failure to thrive
• Recurrent ear infections
• Skin infections
• Diarrhea
• Fatigue
• Joint pain
• Swollen lymph nodes
• Autoimmune disorders

Diagnosis of Choroba Eb

Choroba Eb is diagnosed through a combination of blood tests, physical examination, and family history. Blood tests can measure the levels of antibodies in the blood. A physical examination can reveal signs of infection, such as swollen lymph nodes, skin infections, or joint pain. A family history can help to identify other family members who have the disorder.

Treatment of Choroba Eb

There is no cure for Choroba Eb, but treatment can help to prevent and treat infections. Treatment typically involves immunoglobulin replacement therapy, which involves regular infusions of antibodies. Antibiotics may also be used to prevent and treat infections.