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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
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Authors Affiliations
  1. 1. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran and the University of Medical Science, Tehran, Iran
  2. 2. Department of Allergy and Clinical Immunology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
  3. 3. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
  4. 4. Pediatric Department, Growth Disorders of Children Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
  5. 5. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden

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.
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