Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a rare genetic disorder that affects the body's ability to produce neutrophils, a type of white blood cell that helps fight infection. People with this disorder have very low levels of neutrophils, which can lead to frequent and severe infections. The disorder is caused by mutations in the CXCR2 gene, which provides instructions for making a protein that helps regulate the production of neutrophils.

The symptoms of Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency include recurrent bacterial infections, fever, skin rashes, and oral ulcers. Other symptoms may include anemia, thrombocytopenia, hepatosplenomegaly, lymphadenopathy, and skeletal abnormalities.

Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is caused by mutations in the CXCR2 gene. This gene provides instructions for making a protein called CXCR2, which is found on the surface of certain white blood cells called neutrophils. Neutrophils are an important part of the immune system and help protect the body from infection. Mutations in the CXCR2 gene lead to a decrease in the amount of functional CXCR2 protein, which impairs the ability of neutrophils to respond to signals that normally trigger them to move to sites of infection. As a result, people with this condition have an increased risk of recurrent and severe bacterial infections.

1. Granulocyte colony-stimulating factor (G-CSF): G-CSF is a medication that stimulates the production of neutrophils, which are a type of white blood cell. It is used to treat neutropenia caused by CXCR2 deficiency.

2. Antibiotics: Antibiotics are used to treat infections that occur due to neutropenia.

3. Bone marrow transplant: A bone marrow transplant is a procedure in which healthy bone marrow cells are transplanted into a person with CXCR2 deficiency. This can help to restore the production of neutrophils.

4. Gene therapy: Gene therapy is a type of treatment that involves introducing a healthy gene into a person’s cells. This can help to restore the production of neutrophils.

1. Family history of Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
2. Being of Ashkenazi Jewish descent
3. Having a mutation in the CXCR2 gene
4. Being exposed to certain environmental toxins or radiation

At this time, there is no cure for autosomal recessive severe congenital neutropenia due to CXCR2 deficiency. However, there are medications that can help manage the symptoms. These include granulocyte colony-stimulating factor (G-CSF) to stimulate the production of neutrophils, antibiotics to prevent infections, and immunoglobulin replacement therapy to boost the immune system. Additionally, bone marrow transplantation may be an option for some patients.