Document Detail

A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells.
MedLine Citation:
PMID:  14702466     Owner:  NLM     Status:  MEDLINE    
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 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. 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.
Frédéric Bernard; Capucine Picard; Valérie Cormier-Daire; Céline Eidenschenk; Graziella Pinto; Jacinta-Cecilia Bustamante; Emmanuelle Jouanguy; Dominique Teillac-Hamel; Virginie Colomb; Isabelle Funck-Brentano; Véronique Pascal; Eric Vivier; Alain Fischer; Françoise Le Deist; Jean-Laurent Casanova
Related Documents :
9185226 - Autopsy findings in the wolcott-rallison syndrome.
19396836 - Possible new syndrome: left ventricular noncompaction, partial agenesis of the corpus c...
17395066 - The phenotypic overlap of syndromes associated with hereditary gingival fibromatosis: f...
12673656 - Stocco dos santos x-linked mental retardation syndrome: clinical elucidation and locali...
21264796 - Transient efficacy of octreotide and pasireotide (som230) treatment in gip-dependent cu...
2736816 - Ex novo episodes of acute glomerulonephritis and guillain-barré syndrome: a case report.
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatrics     Volume:  113     ISSN:  1098-4275     ISO Abbreviation:  Pediatrics     Publication Date:  2004 Jan 
Date Detail:
Created Date:  2004-01-02     Completed Date:  2004-01-28     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0376422     Medline TA:  Pediatrics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  136-41     Citation Subset:  AIM; IM    
Unité d'Immunologie-Hématologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Bone Diseases, Metabolic* / genetics
CD8-Positive T-Lymphocytes
Child, Preschool
Diagnosis, Differential
Face / abnormalities*
Fatal Outcome
Fetal Growth Retardation / genetics
Growth Disorders* / genetics
Immunologic Deficiency Syndromes* / genetics
Killer Cells, Natural

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Effects of fast-food consumption on energy intake and diet quality among children in a national hous...
Next Document:  Ethical considerations in research with socially identifiable populations.