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Children with Cornelia de Lange Syndrome (CdLS) May Develop Immune System Problems

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CdLS is a genetic disorder that affects as many as 1 in 10,000 children. Children with CdLS typically have intellectual disability, upper limb defects, gastrointestinal complications, and heart defects. In addition, many children with CdLS develop serious chronic infections, and these infections can result in death.

In the past, these infections have often been attributed to anatomical differences such as cleft palate, severe gastroesophageal reflux, and narrow ear canals. However, scientists theorized that children with CdLS may also develop problems with their immune system, and that these immunological deficits may contribute to chronic infections. 

Researchers funded by the Developmental Biology and Structural Variation Branch compared blood test results of children with CdLS to those of typically developing children. They found that the children with CdLS had decreased percentages of T cells, which help fight off infections. In addition, about one-third of the children with CdLS had results consistent with antibody deficiency syndrome. 

The results of this study suggest that children with CdLS who have experienced chronic infections might benefit from a full immunological workup and treatment (PMID: 23821697). 

Last Reviewed: 06/19/2014
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology