Short answer · Medically reviewed summary · Last updated: 2023-07-13

Severe congenital neutropenia, also known as Kostmann syndrome or severe chronic neutropenia, is a rare genetic disorder characterized by a severe decrease in the number of neutrophils, a type of white blood cell that plays a crucial role in fighting off bacterial infections. This condition is typically present from birth and can lead to recurrent and life-threatening infections. Synonyms for severe congenital neutropenia include: Kostmann syndrome: Named after the Swedish physician who first described the condition, Kostmann syndrome is a term commonly used to refer to severe congenital neutropenia. Severe chronic neutropenia: This term emphasizes the chronic nature of the condition, as individuals with severe congenital neutropenia often experience ongoing neutropenia throughout their lives. Infantile genetic agranulocytosis: This term highlights the absence of granulocytes, including neutrophils, which are essential for immune defense against bacterial infections. Severe congenital agranulocytosis: Agranulocytosis refers to the absence of granulocytes, and severe congenital agranulocytosis specifically refers to the severe form of neutropenia present from birth. It is important to note that severe congenital neutropenia is a serious condition that requires ongoing medical management.