Congenital neutropenia syndromes are a group of disorders characterized by low levels of neutrophils—white blood cells necessary for combating infections—present from birth. Congenital neutropenia syndromes also may be called congenital agranulocytosis, severe congenital neutropenia, severe infantile genetic neutropenia, infantile genetic agranulocytosis or Kostmann disease.
Why Is the Study of Congenital Neutropenia Syndromes a Priority for NIAID?
Congenital neutropenia syndromes are rare genetic diseases that may be chronic, debilitating, and costly. By learning more about these diseases and their effects on the body, scientists gain a greater understanding of immune function that can inform multiple areas of research.
How Is NIAID Addressing This Critical Topic?
NIAID supports basic scientific research on the immune system and the nature and development of neutrophils, which may lead to insights for addressing congenital neutropenia syndromes.
Congenital neutropenia syndromes are primary immune deficiency diseases (PIDD). For more information on PIDD research and patient care at NIAID, visit the NIAID PIDD site.
To learn about risk factors for severe congenital neutropenia and current management and treatment strategies visit the National Library of Medicine, Genetics Home Reference severe congenital neutropenia site.
Researchers have identified a number of genetic mutations that cause congenital neutropenia syndromes. Generally, mutations that result in congenital neutropenia affect the development, lifespan, or function of neutrophils.
People with congenital neutropenia will experience bacterial infections early on in life. These may cause inflammation of the umbilical cord stump, abscesses (or boils) on the skin, oral infections, and pneumonia. Bone marrow and blood tests can measure the levels of various white blood cells to test for deficiencies.
Standard therapy includes being injected with granulocyte colony-stimulating factor (G-CSF), an immune-cell-growth molecule that can help restore the function of the immune system. People on G-CSF therapy may have a lower incidence and severity of infections, improving their quality of life, but effects vary between individuals. For some individuals, a bone marrow transplantation may be recommended to replace defective immune cells with those of a healthy donor.