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JACI Highlights - September 2009Comèl-Netherton symdrome revisited: A clinical triad becomes a quartetThe article in the September 2009 issue of The Journal of Allergy and Clinical Immunology by Renner et al. focuses on Comèl-Netherton Syndrome, a rare multi-system disorder known mainly to dermatologists. In 2000, mutations in SPINK5, encoding the serine protease inhibitor LEKTI, were associated with this syndrome, a devastating disease characterized by ichthyosis, bamboo hair, and atopic diseases. Although susceptibility to infections, including fatal infections particularly during the first year of life, had been recognized, this is the first comprehensive analysis of the immune defense in Comèl-Netherton Syndrome, defining this disease as a primary immunodeficiency. The authors provide data demonstrating decreased specific antibody production to a polysaccharide vaccine and to the potent neoantigen bacteriophage phiX174, and low NK cell function. In addition, they were able to demonstrate that IVIG is clinically beneficial to patients and increases NK cell function temporarily. The authors conclude that reduced epithelial LEKTI expression results in innate and cognate immunodeficiency through defective matrix modulation. They therefore suggest expanding the clinical triad of ichthyosis, bamboo hair and atopic disease to a quartet that includes recurrent infections secondary to a primary immune defect “Comèl-Netherton syndrome - defined as primary immunodeficiency” by Renner et al. (JACI September 2009 Volume 124 No. 3) |
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