Salvestrini, Camilla, McGrath, John A., Ozoemena, Linda, Husain, Khaled, Buhamrah, Eman, Sabery, Nasim, Leichtner, Alan, Rufo, Paul A., Perez-Atayde, Antonio, Orteu, Cate H., Torrente, Franco, Heuschkel, Robert B., Thomson, Michael A. and Murch, Simon (2008) Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. Journal of pediatric gastroenterology and nutrition, Vol.47 (No.5). pp. 585-591. ISSN 1536-4801.

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Abstract

ITGB4 mutation may induce a desquamative enteropathy in infancy without significant skin disease. A history of pyloric atresia is important in infants with severe chronic diarrhoeal disease and should prompt investigation for JEB-PA associated mutations. Acquired immune responses may exacerbate primary genetic disorders of epithelial adhesion and immunomodulatory therapy may be beneficial.

Item Type:	Journal Article
Divisions:	Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Biomedical Sciences > Translational & Experimental Medicine > Metabolic and Vascular Health (- until July 2016) Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School
Journal or Publication Title:	Journal of pediatric gastroenterology and nutrition
Publisher:	Lippincott Williams & Wilkins
ISSN:	1536-4801
Official Date:	2008
Dates:	Date Event 2008 Published
Volume:	Vol.47
Number:	No.5
Page Range:	pp. 585-591
Status:	Peer Reviewed
Publication Status:	Published
Access rights to Published version:	Restricted or Subscription Access

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