DOMINANTLY INHERITED SEVERE CONGENITAL NEUTROPENIA

We report a family with autosomal dominant inherited neutropenia, char acterized by maturation arrest of neutrophil precursors and hypergamma globulinaemia. A mother, two children by her first marriage and two by her second were affected. They suffered recurrent lung, skin, ear and periodontal infections. Four have had appendicitis, and three mastoid itis. One died at 7 years from neutropenic enterocolitis, and a second at 10 years from small bowel infarction. Four who were treated with r hG-CSF responded to 5-14 mu g/kg/day with normal neutrophil counts. Da ily therapy has maintained neutrophil counts above 1000 x 10(9) ger li tre. Elective appendicectomy and long term G-CSF therapy are indicated .