How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease

Research output: Contribution to journalReviewpeer-review

Standard

How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease. / Nielsen, Ole Haagen; LaCasse, Eric Charles.

In: Genetics In Medicine, Vol. 19, 2017, p. 133-143.

Research output: Contribution to journalReviewpeer-review

Harvard

Nielsen, OH & LaCasse, EC 2017, 'How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease', Genetics In Medicine, vol. 19, pp. 133-143. https://doi.org/10.1038/gim.2016.82

APA

Nielsen, O. H., & LaCasse, E. C. (2017). How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease. Genetics In Medicine, 19, 133-143. https://doi.org/10.1038/gim.2016.82

Vancouver

Nielsen OH, LaCasse EC. How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease. Genetics In Medicine. 2017;19:133-143. https://doi.org/10.1038/gim.2016.82

Author

Nielsen, Ole Haagen ; LaCasse, Eric Charles. / How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease. In: Genetics In Medicine. 2017 ; Vol. 19. pp. 133-143.

Bibtex

@article{46cd952cfbb241ed84aedae3a107b14a,
title = "How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease",
abstract = "X-linked lymphoproliferative disease type 2 (XLP-2, OMIM 300635) is a primary immunodeficiency caused by the loss of X chromosome-linked inhibitor of apoptosis (XIAP), the X-linked inhibitor of apoptosis gene at Xq25. XLP-2 individuals are susceptible to several specific and potentially fatal infections, such as Epstein-Barr virus (EBV). Children with XIAP-related XLP-2 may present with either familial hemophagocytic lymphohistiocytosis, often triggered in response to EBV infection, or with a treatment-refractory severe pediatric form of inflammatory bowel disease (IBD) that might be diagnosed as Crohn disease. However, this monogenic cause of IBD is distinct from adult Crohn disease (a polygenic and multifactorial disease) in its etiology and responsiveness to therapy. XLP-2 and the associated IBD symptoms are managed by a reduced-intensity conditioning regimen with an allogeneic hematopoietic stem cell transplantation that causes resolution of gastrointestinal symptoms. Exome sequencing has enabled identification of XIAP-deficient diseased individuals and has altered their morbidity by providing potentially lifesaving strategies in a timely and effective manner. Here, we summarize XLP-2 IBD treatment history and patient morbidity/mortality since its original identification in 2006. Since XLP-2 is rare, cases are probably undergiagnosed or misdiagnosed. Consideration of XLP-2 in children with severe symptoms of IBD can prevent serious morbidities and mortality, avoid unnecessary procedures, and expedite specific targeted therapy.Genet Med advance online publication 14 July 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.82.",
author = "Nielsen, {Ole Haagen} and LaCasse, {Eric Charles}",
year = "2017",
doi = "10.1038/gim.2016.82",
language = "English",
volume = "19",
pages = "133--143",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "nature publishing group",

}

RIS

TY - JOUR

T1 - How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease

AU - Nielsen, Ole Haagen

AU - LaCasse, Eric Charles

PY - 2017

Y1 - 2017

N2 - X-linked lymphoproliferative disease type 2 (XLP-2, OMIM 300635) is a primary immunodeficiency caused by the loss of X chromosome-linked inhibitor of apoptosis (XIAP), the X-linked inhibitor of apoptosis gene at Xq25. XLP-2 individuals are susceptible to several specific and potentially fatal infections, such as Epstein-Barr virus (EBV). Children with XIAP-related XLP-2 may present with either familial hemophagocytic lymphohistiocytosis, often triggered in response to EBV infection, or with a treatment-refractory severe pediatric form of inflammatory bowel disease (IBD) that might be diagnosed as Crohn disease. However, this monogenic cause of IBD is distinct from adult Crohn disease (a polygenic and multifactorial disease) in its etiology and responsiveness to therapy. XLP-2 and the associated IBD symptoms are managed by a reduced-intensity conditioning regimen with an allogeneic hematopoietic stem cell transplantation that causes resolution of gastrointestinal symptoms. Exome sequencing has enabled identification of XIAP-deficient diseased individuals and has altered their morbidity by providing potentially lifesaving strategies in a timely and effective manner. Here, we summarize XLP-2 IBD treatment history and patient morbidity/mortality since its original identification in 2006. Since XLP-2 is rare, cases are probably undergiagnosed or misdiagnosed. Consideration of XLP-2 in children with severe symptoms of IBD can prevent serious morbidities and mortality, avoid unnecessary procedures, and expedite specific targeted therapy.Genet Med advance online publication 14 July 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.82.

AB - X-linked lymphoproliferative disease type 2 (XLP-2, OMIM 300635) is a primary immunodeficiency caused by the loss of X chromosome-linked inhibitor of apoptosis (XIAP), the X-linked inhibitor of apoptosis gene at Xq25. XLP-2 individuals are susceptible to several specific and potentially fatal infections, such as Epstein-Barr virus (EBV). Children with XIAP-related XLP-2 may present with either familial hemophagocytic lymphohistiocytosis, often triggered in response to EBV infection, or with a treatment-refractory severe pediatric form of inflammatory bowel disease (IBD) that might be diagnosed as Crohn disease. However, this monogenic cause of IBD is distinct from adult Crohn disease (a polygenic and multifactorial disease) in its etiology and responsiveness to therapy. XLP-2 and the associated IBD symptoms are managed by a reduced-intensity conditioning regimen with an allogeneic hematopoietic stem cell transplantation that causes resolution of gastrointestinal symptoms. Exome sequencing has enabled identification of XIAP-deficient diseased individuals and has altered their morbidity by providing potentially lifesaving strategies in a timely and effective manner. Here, we summarize XLP-2 IBD treatment history and patient morbidity/mortality since its original identification in 2006. Since XLP-2 is rare, cases are probably undergiagnosed or misdiagnosed. Consideration of XLP-2 in children with severe symptoms of IBD can prevent serious morbidities and mortality, avoid unnecessary procedures, and expedite specific targeted therapy.Genet Med advance online publication 14 July 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.82.

U2 - 10.1038/gim.2016.82

DO - 10.1038/gim.2016.82

M3 - Review

C2 - 27416006

VL - 19

SP - 133

EP - 143

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

ER -

ID: 166020137