Chronic Congenital Neutropenia

Also known as

  • Severe chronic congenital neutropenia Moderate chronic neutropenia Mild chronic neutropenia Chronic congenital neutropenia Idiopathic neutropenia

This form of neutropenia arises in babies and young children who don't have cancer, but unlike other forms persists throughout the individual's life time causing frequent infections. It may initially be diagnosed as another form of neutropenia. Chronic neutropenia is a condition caused by a lower than normal level of neutrophils, a type of white blood cell. It can be classified as severe, moderate or mild depending on the number of neutrophils in the blood.

Condition details

The condition leads to recurrent bacterial infections and sometimes fungal infections in those who are affected that persist throughout their life time. Common sites of infection are skin, mouth, sinuses and gut but other organs such as kidneys may be involved. The seriousness of the infections depends on the neutrophil count of the affected individual. All those with the disorder must seek medical attention as soon as possible if they have an infection and this more urgent in those with severe neutropenia, who may require hospitalisation. Treatment tends to be based on treating the infections as they arise though those with the severe form require on-going treatment with G-CSF. There is a variant called "benign ethnic neutropenia" which causes absolutely no signs and no symptoms. This can confuse medical professionals and can lead to delayed diagnosis in those with mild/moderate forms of the disease who are from black and minority ethnic communities.

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Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Can manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Baby
Lay terms Clinical terms
  • fever
  • ear infections
  • mouth infections
  • oral ulcers
  • skin rashes
  • sinusitis
  • chest/lung infections
  • sore throat
  • cough or shortness of breath
  • nasal congestion
  • gut infections
  • urinary tract infections
  • fungal infections (if severe)
  • low neutrophil count
  • gingivitis
  • stomatitis
  • periodontitis
  • tonsilitis
  • otitis media
  • chronic sinusitis
  • pneumonia
  • urinary tract infections
  • gastrointestinal infections
  • cellulitis
  • impetigo
  • atopic dermatitis
Toddler
Lay terms Clinical terms
  • fever
  • fever
  • ear infections
  • mouth infections
  • oral ulcers
  • skin rashes
  • sinusitis
  • chest/lung infections
  • sore throat
  • cough or shortness of breath
  • nasal congestion
  • gut infections
  • urinary tract infections
  • fungal infections (if severe)
  • fungal infections (if severe)
  • low neutrophil count
  • gingivitis
  • stomatitis
  • periodontitis
  • tonsilitis
  • otitis media
  • chronic sinusitis
  • pneumonia
  • urinary tract infections
  • gastrointestinal infections
  • cellulitis
  • impetigo
  • atopic dermatitis
Child 4-10
Lay terms Clinical terms
  • fever
  • ear infections
  • mouth infections
  • oral ulcers
  • skin rashes
  • sinusitis
  • chest/lung infections
  • sore throat
  • cough or shortness of breath
  • nasal congestion
  • gut infections
  • urinary tract infections
  • fungal infections (if severe)
  • fungal infections (if severe)
  • low neutrophil count
  • gingivitis
  • stomatitis
  • periodontitis
  • tonsilitis
  • otitis media
  • chronic sinusitis
  • pneumonia
  • urinary tract infections
  • gastrointestinal infections
  • cellulitis
  • impetigo
  • atopic dermatitis
Child 10-18
Lay terms Clinical terms
  • fever
  • ear infections
  • mouth infections
  • oral ulcers
  • skin rashes
  • sinusitis
  • chest/lung infections
  • sore throat
  • cough or shortness of breath
  • nasal congestion
  • gut infections
  • urinary tract infections
  • fungal infections (if severe)
  • fungal infections (if severe)
  • low neutrophil count
  • gingivitis
  • stomatitis
  • periodontitis
  • tonsilitis
  • otitis media
  • chronic sinusitis
  • pneumonia
  • urinary tract infections
  • gastrointestinal infections
  • cellulitis
  • impetigo
  • atopic dermatitis
Adult
Lay terms Clinical terms
  • fever
  • ear infections
  • mouth infections
  • oral ulcers
  • skin rashes
  • sinusitis
  • chest/lung infections
  • sore throat
  • cough or shortness of breath
  • nasal congestion
  • gut infections
  • urinary tract infections
  • fungal infections (if severe)
  • low neutrophil count
  • gingivitis
  • stomatitis
  • periodontitis
  • tonsilitis
  • otitis media
  • chronic sinusitis
  • pneumonia
  • urinary tract infections
  • gastrointestinal infections
  • cellulitis
  • impetigo
  • atopic dermatitis

Affected genes identified to date

  • chromosome 17 at position 21.31
  • chromosome 1 at position 22.1
  • chromosome 1 at position 21.3
  • X chromosome at position 11.23
  • chromosome 19 at position 13.3
  • chromosome 3 at position 25.3
  • chromosome 1 at position 34.3

Inheritance patterns

Is X-linked Is Autosomal recessive Is Autosomal dominant

WAS gene,

G6PC3 gene, HAX1 gene, ELANE gene, JAGN1 gene, CSF3R gene

GFI1 gene,

Are carriers affected?

Yes - depends on the gene affected.

How many are affected?

Unknown as poorly researched condition and confusion of naming between types.

Support groups and organisations

No groups found

Known experts

No experts found

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