title: A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells.
abstract: OBJECTIVE
  To describe a novel syndrome characterized by severe prenatal and postnatal growth failure, mild skeletal and facial abnormalities, and primary immunodeficiency.
  
  
  METHODS
  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 features.
  
  
  RESULTS
  The immune defect consists of a lack of detectable natural killer cells and small numbers of CD8 alphabeta T cells and polymorphonuclear neutrophils. This is the first report of prenatal and postnatal growth failure associated with mild skeletal and facial abnormalities and primary immunodeficiency.
  
  
  CONCLUSIONS
  This novel syndrome probably is caused by an autosomal recessive gene defect impairing both intrauterine growth and natural killer cell development. The identification of other kindreds with this syndrome would facilitate the search for its genetic basis.
authors.affiliation: Unité d'Immunologie-Hématologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Bernard
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Céline
authors.initials: C
authors.lastname: Eidenschenk
authors.forename: Graziella
authors.initials: G
authors.lastname: Pinto
authors.forename: Jacinta-Cecilia
authors.initials: JC
authors.lastname: Bustamante
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Jouanguy
authors.forename: Dominique
authors.initials: D
authors.lastname: Teillac-Hamel
authors.forename: Virginie
authors.initials: V
authors.lastname: Colomb
authors.forename: Isabelle
authors.initials: I
authors.lastname: Funck-Brentano
authors.forename: Véronique
authors.initials: V
authors.lastname: Pascal
authors.forename: Eric
authors.initials: E
authors.lastname: Vivier
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.forename: Françoise
authors.initials: F
authors.lastname: Le Deist
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D001851:Bone Diseases, Metabolic / Q000235:genetics; D018414:CD8-Positive T-Lymphocytes; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics; D007223:Infant; D007694:Killer Cells, Natural; D009504:Neutrophils; D013577:Syndrome