GATA2 deficiency

GATA2 Deficiency

GATA2 deficiency (pronounced: gah-tah-two deficiency) is a rare genetic disorder that affects the body's ability to fight off infections.

Etymology

The term "GATA2" refers to the gene that is affected in this condition. The GATA2 gene provides instructions for making a protein that plays a crucial role in the development of several types of cells, including immune cells. "Deficiency" refers to the lack or shortage of this protein due to mutations in the GATA2 gene.

Definition

GATA2 deficiency is characterized by a reduced number of white blood cells, which are vital for a healthy immune system. This deficiency can lead to a variety of health problems, including severe infections, leukemia, and other blood disorders.

Symptoms

Symptoms of GATA2 deficiency can vary widely, but often include an increased susceptibility to infections, particularly those caused by fungi and mycobacteria. Other symptoms may include anemia, thrombocytopenia, and lymphedema.

Diagnosis

Diagnosis of GATA2 deficiency typically involves genetic testing to identify mutations in the GATA2 gene. Other tests, such as blood tests to assess the number and function of immune cells, may also be used.

Treatment

Treatment for GATA2 deficiency often involves managing symptoms and preventing infections. In severe cases, a stem cell transplant may be recommended.