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What Is Elane Neutropenia?

ELANE-related neutropenia includes  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  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,  individuals are generally healthy. Symptoms improve in adulthood. Cyclic neutropenia is not associated with risk of malignancy or conversion to leukemia.

Diagnosis/testing.

The diagnosis of ELANE-related neutropenia relies primarily on serial measurements of the absolute neutrophil count (ANC) and clinical findings. ELANE is the only  in which mutation is known to cause ELANE-related neutropenia. For individuals with well-documented cyclic neutropenia and known  family members, the mutation detection rate is as high as 100%. For individuals with  neutropenia, the mutation detection rate is as high as 80%.

Management.

Treatment of manifestations: All fevers and infections require prompt evaluation and treatment. Abdominal pain requires evaluation for the potentially lethal complications of peritonitis and bacteremia.
https://www.ncbi.nlm.nih.gov/books/NBK1533/

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