X-linked severe congenital neutropenia

X-linked severe congenital neutropenia is an immunodeficiency syndrome that primarily affects males. People with this condition experience problems with their immune system, which makes it hard to fight off infections. The syndrome is marked by recurrent major bacterial infections, a very low number of neutrophils (a type of white blood cell), and fewer monocytes. This condition has been described in five males across three generations of one family and follows an X-linked recessive pattern of inheritance. Mutations in the WAS gene, which encodes the WASP protein, are known to cause the syndrome.

People with this condition often experience repeated severe bacterial infections. A key symptom is severe congenital neutropenia, which means there are very few neutrophils in the blood. Monocytopenia, or a reduced number of monocytes, has also been noted.

X-linked severe congenital neutropenia is caused by mutations in the WAS gene. This gene provides instructions for making the WASP protein, which plays an important role in the body's immune system. The condition is inherited in an X-linked recessive manner, which means that the faulty gene is located on the X chromosome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.