Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share By
Candidiasis Associated With Very Early Onset Inflammatory Bowel Disease: First Il10rb Deficient Case From the National Iranian Registry and Review of the Literature Publisher Pubmed



Yazdani R1 ; Moazzami B1 ; Madani SP1 ; Behniafard N2 ; Azizi G3 ; Aflatoonian M4 ; Abolhassani H1, 5 ; Aghamohammadi A1
Authors

Source: Clinical Immunology Published:2019


Abstract

Defects in interleukin-10 (IL10) and interleukin-10 receptors (IL10R) are closely related to very early onset (infantile) inflammatory bowel disease (VEO-IBD). In the present study, we report a novel homozygous null mutation within interleukin-10 receptor B (IL10RB) gene in a child presenting with severe VEO-IBD. In accordance with previous reports, our patient manifested with chronic diarrhea, failure to thrive, intermittent fever and multiple anal ulcers associated with Candidiasis. Homozygous null mutation within IL10RB gene (c.92C > T, p.S31P) affecting the extracellular domain of protein was discovered in this patient. In conclusion, the diagnosis of IL-10R gene mutations should always be considered as a possible cause of refractory diarrhea and failure to thrive. Mutation analysis could help detect the genetic defects associated with these clinical manifestations and to determine the most appropriate treatment option for patients affected by this disease. © 2019 Elsevier Inc.
Other Related Docs
7. Diagnostic Challenges in the Early Onset of Inflammatory Bowel Disease: A Case Report, International Journal of Molecular and Cellular Medicine (2018)
18. Common Presentations and Diagnostic Approaches, Stiehm's Immune Deficiencies: Inborn Errors of Immunity (2020)