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Cytomegalovirus Infection
PEDIATRICS Vol. 113 No. 1 January 2004, pp. 136-141

EXPERIENCE AND REASON—Briefly Recorded

A Novel Developmental and Immunodeficiency Syndrome Associated With Intrauterine Growth Retardation and a Lack of Natural Killer Cells

Frédéric Bernard, MD, PhD*,{ddagger}, Capucine Picard, MD*,§, Valérie Cormier-Daire, MD, PhD||, Céline Eidenschenk, MSc§, Graziella Pinto, MD, Jacinta-Cecilia Bustamante, MD§, Emmanuelle Jouanguy, PhD§, Dominique Teillac-Hamel, MD#, Virginie Colomb, MD, PhD**, Isabelle Funck-Brentano, MSc*, Véronique Pascal, PhD{ddagger}{ddagger}, Eric Vivier, PhD, DVM{ddagger}{ddagger}, Alain Fischer, MD, PhD*,§§, Françoise Le Deist, MD, PhD§§,|||| and Jean-Laurent Casanova, MD, PhD*,§

* Unité d’Immunologie-Hématologie Pédiatrique
|| Service de Génétique
Service d’Endocrinologie Pédiatrique
# Service de Dermatologie
** Service de Gastro Entérologie Pédiatrique
§§ Institut National de la Santé et de la Recherche Médicale (INSERM) U429, Pavillon Kirmisson
|||| Laboratoire d’Immunologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France
{ddagger} Hémato-Oncologie Pédiatrie, Pédiatrie 3, Hôpital Arnaud de Villeneuve, Montpellier, France
§ Laboratoire de Génétique Humaine des Maladies Infectieuses, Université René Descartes, INSERM U550, Faculté de Médecine Necker, Paris, France
{ddagger}{ddagger} NK cells and Innate Immunity, Centre d’Immunologie de Marseille-Luminy, Centre National de la Recherche Scientifique-INSERM-Université de la Méditerranée, Campus de Luminy, Case 906, Marseille, France

ABSTRACT

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 features.

Results. The immune defect consists of a lack of detectable natural killer cells and small numbers of CD8 {alpha}ß 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.

Conclusion. 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.

Key Words: intrauterine growth retardation • dysmorphy • primary immunodeficiency • NK cells • viral disease

Abbreviations: PID, primary immunodeficiency disease • NK, natural killer • Ig, immunoglobulin • CMV, cytomegalovirus • SD, standard deviation • OFC, occipitofrontal circumference • GH, growth hormone • IGF1, insulin-like growth factor 1 • WBC, white blood cell • TcR, T-cell receptor • SCID, severe combined immunodeficiency • IL, interleukin

Received for publication Jan 6, 2003; Accepted May 15, 2003.




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