Congenital Neutropenia

Cyclic Neutropenia

This is a relatively benign disease characterized by low neutrophil (one of the types of infection-fighting cells) counts every 14 to 35 days.

Patients usually present with recurrent infections (bacterial) manifested as fevers, mouth ulcers, sore throat, gingival infections, etc. It can be almost asymptomatic, with the child not feeling well for a few days each month or a life-threatening infection. As the child grows, the disease tend to be less severe.

Usually diagnosed in the first year of life with a history of cyclical infections, together with blood and genetic tests.

Severe Congenital Neutropenia (Kostmann's Syndrome)

One of the severe congenital (present at birth and possibly before that) neutropenias, characterized by low neutrophils (one on the types of infection-fighting cells).

Patients usually present with severe and recurrent infections mainly in the respiratory tract and skin.

The diagnosis is usually suspected by the clinical history and is confirmed with blood tests combined with genetic and molecular tests.