GTR Home > Conditions/Phenotypes > Cyclical neutropenia

Disease characteristics

Excerpted from the GeneReview: ELANE-Related Neutropenia
ELANE-related neutropenia includes congenital neutropenia and cyclic neutropenia, both of which are primary hematologic disorders characterized by recurrent fever, skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, and pharyngitis), and cervical adenopathy. Infectious complications are generally more severe in congenital neutropenia than in cyclic neutropenia. In congenital neutropenia, omphalitis immediately after birth may be the first sign; in untreated children diarrhea, pneumonia, and deep abscesses in the liver, lungs, and subcutaneous tissues are common in the first year of life. After 15 years with granulocyte colony stimulating factor treatment, the risk of developing myelodysplasia (MDS) or acute myelogenous leukemia AML is approximately 15%-25%. Cyclic neutropenia is usually diagnosed within the first year of life based on approximately three-week intervals of fever and oral ulcerations and regular oscillations of blood cell counts. Cellulitis, especially perianal cellulitis, is common during neutropenic periods. Between neutropenic periods, affected individuals are generally healthy. Symptoms improve in adulthood. Cyclic neutropenia is not associated with risk of malignancy or conversion to leukemia.

Associated genes

Clinical features

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  • Fever
  • Neutropenia
  • Thrombocytopenia
  • Anemia
  • Lymphadenopathy
  • Recurrent respiratory infections
  • Carious teeth
  • Abnormality of the mouth
  • Periodontitis
  • Abnormality of neutrophils
  • Abnormality of eosinophils
  • Abdominal pain
  • Abnormality of temperature regulation
  • Sepsis
  • Skin ulcer
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