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Congenital Neutropenia
Syndromes

Congenital neutropenia syndromes are a group of uncommon diseases present when a baby is born. They are associated with a lower-than-normal neutrophil count. Neutrophils are a kind of white blood cell. White blood cells are important to the body because they help fight off infection, and not having enough neutrophils can limit the body’s ability to fight infection. Congenital neutropenia syndromes are inherited.

Symptoms

The symptoms of congenital neutropenia syndromes are usually obvious at a young age. They include:

  • Frequent infections – usually respiratory infections affecting the mouth, nose, sinuses, throat, and lungs
  • Frequent fevers
  • Lower than normal bone density (osteopenia)
  • Brittle bones (osteoporosis)
  • Developmental abnormalities
  • Seizures
  • Heart and/or genital defects

Causes & Risk Factors

There are several genes in which changes occur that cause congenital neutropenia syndromes.

  • ELANE gene – a large percentage of cases is estimated to be caused by a mutation in the ELANE A child receives two copies of every gene from their parents, one from mom, and one from dad. In the case of the ELANE gene, only one of those copies needs to be mutated for congenital neutropenia syndromes to develop. This means that only one parent needs to have the mutated version of the ELANE gene for the child to develop congenital neutropenia syndromes.
  • HAX1 gene – the HAX1 gene is a less frequent cause of congenital neutropenia syndromes. However, mutations in the HAX1 gene have been shown to cause it. The HAX1 gene is a less common cause because both parents need to have a mutated version of the HAX1 gene for the child to develop congenital neutropenia syndromes. Congenital neutropenia syndromes due to a mutation in the HAX1 gene will only develop if the child has two mutated HAX1
  • Other genes – there are other genes linked to congenital neutropenia syndromes with much less frequency. These include CXCR4, GF11, JAGN1, VPS45A, G6PC3, CSF3R, and WAS. WAS is notable because it is located on the X-chromosome. Both men and women have the X-chromosome, but men have one Y and one X chromosome, while women are born with two X-chromosomes. If men inherit the WAS gene with a mutation on the X chromosome, they will develop congenital neutropenia syndromes. However, women have to have the mutation on both X-chromosomes.
  • Unknown gene – in some cases, the genetic change that caused congenital neutropenia syndromes is unknown.

Risk factors for congenital neutropenia syndromes include:

  • Sex – due to one of the genes that causes congenital neutropenia syndromes being located on the X-chromosome, males have a very slim chance of getting congenital neutropenia syndromes more often than females.
  • Having parents with congenital neutropenia syndromes.

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Diagnosis & Complications

Congenital neutropenia syndromes are usually diagnosed quickly after birth during a physical exam. A physician will order blood tests to look for abnormal levels of neutrophils if they suspect congenital neutropenia syndromes. To confirm a diagnosis, genetic testing will be done on the child and the parents. This can confirm the presence of any genetic changes that have caused congenital neutropenia syndromes in the child and the presence of any genetic changes in the parents.

Complications from congenital neutropenia syndromes include:

  • Frequent bacterial infections
  • Pneumonia
  • Pockets of pus on the skin (abscesses)
  • Myelodysplastic syndromes (MDS) – a group of disorders that involve the inability of blood cells to completely mature
  • Acute myeloid leukaemia – cancer that starts in the bone marrow in cells that are trying to mature into white blood cells

Treatment & Management

Treatment for congenital neutropenia syndromes focuses on managing any symptoms, as well as stopping infections before they happen. Treatment regimens include antibiotics, bone marrow transplants, and granulocyte-colony stimulating factor (G-CSF) treatments. G-CSF is a protein produced by the body that encourages production of mature neutrophils. Due to G-CSF treatment, people with congenital neutropenia syndromes are now living much longer than they used to with a much higher quality of life.

 
 
 

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