A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells.
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.
Bernard
Frédéric
F
Unité d'Immunologie-Hématologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France.
Picard
Capucine
C
Cormier-Daire
Valérie
V
Eidenschenk
Céline
C
Pinto
Graziella
G
Bustamante
Jacinta-Cecilia
JC
Jouanguy
Emmanuelle
E
Teillac-Hamel
Dominique
D
Colomb
Virginie
V
Funck-Brentano
Isabelle
I
Pascal
Véronique
V
Vivier
Eric
E
Fischer
Alain
A
Le Deist
Françoise
F
Casanova
Jean-Laurent
JL
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