A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells

F Bernard, C Picard, V Cormier-Daire… - …, 2004 - publications.aap.org
Objective. To describe a novel syndrome characterized by severe prenatal and postnatal
growth failure, mild skeletal and facial abnormalities, and primary immunodeficiency.
Design. The syndrome was observed in 2 sisters. The elder child died of cytomegalovirus
infection when she was 18 months old, whereas the younger sister is doing well at 5 years
old. We report here clinical, hematologic, and immunologic data for both sisters and
compare them with all known inherited disorders with similar clinical or immunologic …