Severe congenital neutropenia
Severe Congenital Neutropenia (pronunciation: səˈvir kənˈjenətl no͞oˈtrōpēnēə) is a rare and serious genetic disorder that primarily affects the immune system.
Etymology
The term "Severe Congenital Neutropenia" is derived from the following roots: "Severe" (from the Latin severus meaning "serious"), "Congenital" (from the Latin congenitus meaning "born with"), and "Neutropenia" (from the Greek neutro meaning "neutral" and penia meaning "lack of").
Definition
Severe Congenital Neutropenia is characterized by an abnormally low number of neutrophils, a type of white blood cell that plays a crucial role in fighting off bacteria and fungi. This condition is present at birth and can lead to recurrent infections, fever, and other serious health problems.
Symptoms
Common symptoms of Severe Congenital Neutropenia include frequent bacterial infections, mouth ulcers, gum disease, and skin abscesses. In severe cases, patients may also develop life-threatening systemic infections.
Causes
Severe Congenital Neutropenia is caused by mutations in certain genes, including the ELANE gene and the HAX1 gene. These mutations prevent the body from producing enough neutrophils to effectively fight off infections.
Treatment
Treatment for Severe Congenital Neutropenia typically involves regular injections of a medication called granulocyte colony-stimulating factor (G-CSF), which stimulates the body to produce more neutrophils. In some cases, a bone marrow transplant may be necessary.
Related Terms
External links
- Medical encyclopedia article on Severe congenital neutropenia
- Wikipedia's article - Severe congenital neutropenia
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