Also known as: Kostmann syndrome, Kostmann disease, severe congenital neutropenia, SCN, infantile genetic agranulocytosis.
What is Kostmann's syndrome?
Kostmann's syndrome is a disease of the bone marrow where children are born without a type of white blood cell - neutrophil ( also called a granulocyte ) which are normally used to fight infection.
What causes Kostmann's syndrome?
Kostmann's syndrome is caused by an inherited genetic mutation ( on chromosome 1 ) that is passed down from parents to their children. Both parents are needed to have the gene abnormality ( autosomal recessive inheritance ).
What are the symptoms of Kostmann's syndrome?
Frequent bacterial infections of the lungs, liver, sinuses, gums or skin are common with Kostmann's syndrome. Over time, many with the disease can develop osteoporosis, leukemia or other disorders related to the bone marrow.
What are Kostmann's syndrome care options?
While there is no cure at present for SCN, there are medications available which can increase the blood white cell number and help to treat the infections.
Reviewed by: Jack Wolfsdorf, MD, FAAP
This page was last updated on: September 09, 2020 11:14 AM