Infantile genetic agranulocytosis

Infantile Genetic Agranulocytosis (also known as Kostmann Syndrome) is a rare, inherited disorder that affects the bone marrow, resulting in a severe reduction of white blood cells (neutrophils) in the body. This condition is characterized by recurrent infections from early infancy due to the lack of neutrophils, which play a crucial role in the immune system's defense against bacteria and fungi.

Causes

Infantile Genetic Agranulocytosis is caused by mutations in the HAX1 gene. This gene provides instructions for making a protein that is found in cells throughout the body, including cells in the bone marrow that produce neutrophils. Mutations in the HAX1 gene lead to a shortage (deficiency) of neutrophils, a condition known as neutropenia.

Symptoms

The primary symptom of Infantile Genetic Agranulocytosis is an increased susceptibility to infections. Affected infants may suffer from recurrent infections, especially in the skin, lungs, and digestive tract. These infections can be severe and may become life-threatening if not treated promptly.

Diagnosis

Diagnosis of Infantile Genetic Agranulocytosis is based on clinical examination, patient history, and laboratory tests. A complete blood count (CBC) can reveal a low number of neutrophils. Genetic testing can confirm the diagnosis by identifying mutations in the HAX1 gene.

Treatment

Treatment for Infantile Genetic Agranulocytosis primarily involves managing symptoms and preventing infections. Antibiotics may be used to treat existing infections, while prophylactic antibiotics may be used to prevent new infections. In severe cases, a bone marrow transplant may be considered.

See Also

• Neutropenia
• Bone Marrow Transplant
• Genetic Disorders

References

• National Organization for Rare Disorders. (2017). Kostmann Syndrome. Retrieved from https://rarediseases.org/rare-diseases/kostmann-syndrome/
• Genetics Home Reference. (2018). HAX1 gene. Retrieved from https://ghr.nlm.nih.gov/gene/HAX1

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