Familial Cyclical Neutropenia

Abstract

SUMMARY The clinical and haematological features of twenty cases of cyclical neutropenia are described. Clinical manifestations commonly began in childhood and improved thereafter. The commonest were fever, oral ulceration and skin infections. Episodes of neutropenia occurred at intervals of 15–35 days and were often accompanied by monocytosis. Anaemia, eosinophilia or thrombocytopenia occurred in several patients. The severity of the disease varied greatly. Some patients had grave infections and others were symptom‐free. The more serious infections occurred in severely neutropenic patients but others equally neutropenic were without infections. The 20 cases came from five families. Thirteen presented on account of symptoms attributable to the disease and seven were found as the result of study of the families of index cases. The family studies suggest that the disease is transmitted as an autosomal dominant of high penetrance and variable expressivity. It seems likely that many cases of cyclical neutropenia remain undetected and others are mistakenly considered to be non‐cyclical.