Chronic Neutropenia and Abnormal Cellular Immunity in Cartilage-Hair Hypoplasia

Abstract

Two children with cartilage-hair hypoplasia suffered from recurrent respiratory-tract infections and contracted unusually severe varicella. Hematologic studies in one child disclosed chronic neutropenia secondary to a failure of myeloid maturation. Immunologic investigations in both children revealed persistent lymphopenia, diminished delayed skin hypersensitivity, diminished responsiveness of their lymphocytes in vitro and, in one, delayed rejection of a skin allograft. Serum immunoglobulin levels were normal or elevated, and the patients were able to synthesize antibodies to a variety of viral and bacterial antigens. It is suggested that some children with this disorder have a distinct form of cellular immune defect, which is responsible for their unusual susceptibility to varicella infection.