agammaglobulinemia 9, autosomal recessive

Agammaglobulinemia 9, autosomal recessive is a primary immunodeficiency that affects how the immune system fights infections. People with this condition have low levels of antibodies (agammaglobulinemia) and lack circulating B cells, which are important for defending the body against bacteria. This results in recurrent bacterial infections that can impact various parts of the body. In addition to frequent infections, individuals with this condition may experience failure to thrive and some skin problems. The severity of the condition varies; while some may be managed effectively with immunoglobulin replacement therapy, others might require more intensive treatment such as a hematopoietic stem cell transplantation.

Common signs and symptoms include repeated bacterial infections, very low levels of antibodies in the blood, and an absence of circulating B cells. Other features may include difficulty gaining weight or growing (failure to thrive) and issues with the skin.

This condition is inherited in an autosomal recessive pattern, meaning that a person needs to inherit two copies of the faulty gene to develop the disease. The known gene associated with this condition is SLC39A7.

Treatment for agammaglobulinemia 9 can vary depending on the severity of the case. Many individuals are treated with immunoglobulin replacement therapy to help manage infections. In more severe cases, hematopoietic stem cell transplantation may be considered.

The outlook for individuals with this condition varies. Some people respond well to immunoglobulin replacement therapy and have effective management of infections, while others with more severe presentations may face a more complicated course of treatment.

Information about research is currently limited for this condition.