In some cases, especially in children who normally get more infections than adults, a differential diagnosis must be established. BEN may be diagnosed in patients of the previously mentioned ethnic backgrounds who have at least two neutrophil counts a month or more apart that are less than 1.5 x 103μL. Infection must be absent, and the patient must have negative tests for HIV, Hepatitis B and C, and Human Lymphotropic Virus.
Also absent should be nutritional deficiencies, autoimmune diseases, and invasive cancer. Absence of an enlarged spleen, low red cell count or platelets, and taking medications that typically cause neutropenia should also be noted. If all of these criteria are met, no further testing is recommended. Additional testing is recommended if a person has signs of infection, swollen lymph nodes, or enlarged spleen. If counts are persistently lower than 0.5 x 103μL, then referral to a hematologist is necessary.
It has been a mystery as to the actual cause of BEN, but recent research has shed some light on this topic.
