Cargando…
The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency
BACKGROUND: Aggressive course and resistance to treatments usually characterize very early onset inflammatory bowel disease (VEO-IBD). Some VEO-IBD cases are due to monogenic immune defects and can benefit from hematopoietic stem cell transplantation (HSCT). CASE PRESENTATION: We describe a Caucasia...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678727/ https://www.ncbi.nlm.nih.gov/pubmed/26671016 http://dx.doi.org/10.1186/s12887-015-0522-5 |
_version_ | 1782405497740066816 |
---|---|
author | Girardelli, Martina Arrigo, Serena Barabino, Arrigo Loganes, Claudia Morreale, Giuseppe Crovella, Sergio Tommasini, Alberto Bianco, Anna Monica |
author_facet | Girardelli, Martina Arrigo, Serena Barabino, Arrigo Loganes, Claudia Morreale, Giuseppe Crovella, Sergio Tommasini, Alberto Bianco, Anna Monica |
author_sort | Girardelli, Martina |
collection | PubMed |
description | BACKGROUND: Aggressive course and resistance to treatments usually characterize very early onset inflammatory bowel disease (VEO-IBD). Some VEO-IBD cases are due to monogenic immune defects and can benefit from hematopoietic stem cell transplantation (HSCT). CASE PRESENTATION: We describe a Caucasian male baby who presented in the first months of life macrophage activation syndrome, followed by intractable colitis, recurrent episodes of fever and mild splenomegaly. After several immunological, genetic and clinical investigations, subsequently a therapeutic attempt with colectomy, analysis of VEO-IBD-associated genes, revealed a causative mutation in XIAP. The genetic diagnosis of a primary immune deficiency allowed curing the boy with hematopoietic stem cell transplantation. CONCLUSION: Our report, together with novel findings from recent literature, should contribute to increase awareness of monogenic immune defects as a cause of VEO-IBD. Comprehensive genetic analysis can allow a prompt diagnosis, resulting in the choice of effective treatments and sparing useless and damaging procedures. |
format | Online Article Text |
id | pubmed-4678727 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-46787272015-12-16 The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency Girardelli, Martina Arrigo, Serena Barabino, Arrigo Loganes, Claudia Morreale, Giuseppe Crovella, Sergio Tommasini, Alberto Bianco, Anna Monica BMC Pediatr Case Report BACKGROUND: Aggressive course and resistance to treatments usually characterize very early onset inflammatory bowel disease (VEO-IBD). Some VEO-IBD cases are due to monogenic immune defects and can benefit from hematopoietic stem cell transplantation (HSCT). CASE PRESENTATION: We describe a Caucasian male baby who presented in the first months of life macrophage activation syndrome, followed by intractable colitis, recurrent episodes of fever and mild splenomegaly. After several immunological, genetic and clinical investigations, subsequently a therapeutic attempt with colectomy, analysis of VEO-IBD-associated genes, revealed a causative mutation in XIAP. The genetic diagnosis of a primary immune deficiency allowed curing the boy with hematopoietic stem cell transplantation. CONCLUSION: Our report, together with novel findings from recent literature, should contribute to increase awareness of monogenic immune defects as a cause of VEO-IBD. Comprehensive genetic analysis can allow a prompt diagnosis, resulting in the choice of effective treatments and sparing useless and damaging procedures. BioMed Central 2015-12-15 /pmc/articles/PMC4678727/ /pubmed/26671016 http://dx.doi.org/10.1186/s12887-015-0522-5 Text en © Girardelli et al. 2015 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Girardelli, Martina Arrigo, Serena Barabino, Arrigo Loganes, Claudia Morreale, Giuseppe Crovella, Sergio Tommasini, Alberto Bianco, Anna Monica The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency |
title | The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency |
title_full | The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency |
title_fullStr | The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency |
title_full_unstemmed | The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency |
title_short | The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency |
title_sort | diagnostic challenge of very early-onset enterocolitis in an infant with xiap deficiency |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678727/ https://www.ncbi.nlm.nih.gov/pubmed/26671016 http://dx.doi.org/10.1186/s12887-015-0522-5 |
work_keys_str_mv | AT girardellimartina thediagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency AT arrigoserena thediagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency AT barabinoarrigo thediagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency AT loganesclaudia thediagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency AT morrealegiuseppe thediagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency AT crovellasergio thediagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency AT tommasinialberto thediagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency AT biancoannamonica thediagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency AT girardellimartina diagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency AT arrigoserena diagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency AT barabinoarrigo diagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency AT loganesclaudia diagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency AT morrealegiuseppe diagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency AT crovellasergio diagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency AT tommasinialberto diagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency AT biancoannamonica diagnosticchallengeofveryearlyonsetenterocolitisinaninfantwithxiapdeficiency |