A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases

Abstract Diarrhoea lasting longer than 14 days and failing to respond to conventional management is defined as severe and protracted diarrhoea (SD). In this study, we investigated the prevalence, pathogens and prognosis of SD in primary immunodeficiency diseases (PIDs). Among 246 patients with predo...

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Autores principales:	Wen-I Lee, Chien-Chang Chen, Tang-Her Jaing, Liang-Shiou Ou, Chuen Hsueh, Jing-Long Huang
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/8fd53d0b67894ccd825418b416de0f6a
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spelling	oai:doaj.org-article:8fd53d0b67894ccd825418b416de0f6a2021-12-02T15:05:58ZA Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases10.1038/s41598-017-03967-42045-2322https://doaj.org/article/8fd53d0b67894ccd825418b416de0f6a2017-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-03967-4https://doaj.org/toc/2045-2322Abstract Diarrhoea lasting longer than 14 days and failing to respond to conventional management is defined as severe and protracted diarrhoea (SD). In this study, we investigated the prevalence, pathogens and prognosis of SD in primary immunodeficiency diseases (PIDs). Among 246 patients with predominantly paediatric-onset PIDs from 2003–2015, 21 [Btk (six), IL2RG (four), WASP, CD40L, gp91 (three each), gp47, RAG2 (one each)] and five [CVID (four), SCID (one)] without identified mutations had SD before prophylactic treatment. Detectable pathogens included pseudomonas, salmonella (six each), E. coli, cytomegalovirus, coxsackie virus and cryptosporidium (one each), all of whom improved after a mean 17 days of antibiotics and/or IVIG treatment. Seven (7/26; 27.0%) patients died [respiratory failure (four), lymphoma, sepsis and intracranial haemorrhage (one each)]. The patients with WAS, CGD and CD40L and SD had a higher mortality rate than those without. Another five males with mutant XIAP, STAT1, FOXP3 (one each) and STAT3 (two) had undetectable-pathogenic refractory diarrhoea (RD) that persisted >21 days despite aggressive antibiotic/steroid treatment and directly resulted in mortality. For the patients with RD without anti-inflammatory optimization, those with mutant XIAP and FOXP3 died of Crohn’s-like colitis and electrolyte exhaustion in awaiting transplantation, while transplantation cured the STAT1 patient.Wen-I LeeChien-Chang ChenTang-Her JaingLiang-Shiou OuChuen HsuehJing-Long HuangNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Wen-I Lee Chien-Chang Chen Tang-Her Jaing Liang-Shiou Ou Chuen Hsueh Jing-Long Huang A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases
description	Abstract Diarrhoea lasting longer than 14 days and failing to respond to conventional management is defined as severe and protracted diarrhoea (SD). In this study, we investigated the prevalence, pathogens and prognosis of SD in primary immunodeficiency diseases (PIDs). Among 246 patients with predominantly paediatric-onset PIDs from 2003–2015, 21 [Btk (six), IL2RG (four), WASP, CD40L, gp91 (three each), gp47, RAG2 (one each)] and five [CVID (four), SCID (one)] without identified mutations had SD before prophylactic treatment. Detectable pathogens included pseudomonas, salmonella (six each), E. coli, cytomegalovirus, coxsackie virus and cryptosporidium (one each), all of whom improved after a mean 17 days of antibiotics and/or IVIG treatment. Seven (7/26; 27.0%) patients died [respiratory failure (four), lymphoma, sepsis and intracranial haemorrhage (one each)]. The patients with WAS, CGD and CD40L and SD had a higher mortality rate than those without. Another five males with mutant XIAP, STAT1, FOXP3 (one each) and STAT3 (two) had undetectable-pathogenic refractory diarrhoea (RD) that persisted >21 days despite aggressive antibiotic/steroid treatment and directly resulted in mortality. For the patients with RD without anti-inflammatory optimization, those with mutant XIAP and FOXP3 died of Crohn’s-like colitis and electrolyte exhaustion in awaiting transplantation, while transplantation cured the STAT1 patient.
format	article
author	Wen-I Lee Chien-Chang Chen Tang-Her Jaing Liang-Shiou Ou Chuen Hsueh Jing-Long Huang
author_facet	Wen-I Lee Chien-Chang Chen Tang-Her Jaing Liang-Shiou Ou Chuen Hsueh Jing-Long Huang
author_sort	Wen-I Lee
title	A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases
title_short	A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases
title_full	A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases
title_fullStr	A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases
title_full_unstemmed	A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases
title_sort	nationwide study of severe and protracted diarrhoea in patients with primary immunodeficiency diseases
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/8fd53d0b67894ccd825418b416de0f6a
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A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases

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