Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy

IPEX syndrome (Immune dysregulation, Polyendocrinopathy, X‐linked) should be tested for in males under 6 months old presenting with diabetes, even without other IPEX features. Early diagnosis and bone marrow transplantation can improve outcomes.

Detalles Bibliográficos
Autores principales: Kadakia, Sejal, Farnaes, Lauge, Dimmock, David, Chowdhury, Shimul, Ding, Yan, Anderson, Eric J., Kingsmore, Stephen, Newfield, Ron S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878034/
https://www.ncbi.nlm.nih.gov/pubmed/31788263
http://dx.doi.org/10.1002/ccr3.2438
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author Kadakia, Sejal
Farnaes, Lauge
Dimmock, David
Chowdhury, Shimul
Ding, Yan
Anderson, Eric J.
Kingsmore, Stephen
Newfield, Ron S.
author_facet Kadakia, Sejal
Farnaes, Lauge
Dimmock, David
Chowdhury, Shimul
Ding, Yan
Anderson, Eric J.
Kingsmore, Stephen
Newfield, Ron S.
author_sort Kadakia, Sejal
collection PubMed
description IPEX syndrome (Immune dysregulation, Polyendocrinopathy, X‐linked) should be tested for in males under 6 months old presenting with diabetes, even without other IPEX features. Early diagnosis and bone marrow transplantation can improve outcomes.
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spelling pubmed-68780342019-11-29 Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy Kadakia, Sejal Farnaes, Lauge Dimmock, David Chowdhury, Shimul Ding, Yan Anderson, Eric J. Kingsmore, Stephen Newfield, Ron S. Clin Case Rep Case Reports IPEX syndrome (Immune dysregulation, Polyendocrinopathy, X‐linked) should be tested for in males under 6 months old presenting with diabetes, even without other IPEX features. Early diagnosis and bone marrow transplantation can improve outcomes. John Wiley and Sons Inc. 2019-09-27 /pmc/articles/PMC6878034/ /pubmed/31788263 http://dx.doi.org/10.1002/ccr3.2438 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Kadakia, Sejal
Farnaes, Lauge
Dimmock, David
Chowdhury, Shimul
Ding, Yan
Anderson, Eric J.
Kingsmore, Stephen
Newfield, Ron S.
Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy
title Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy
title_full Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy
title_fullStr Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy
title_full_unstemmed Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy
title_short Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy
title_sort diagnosis and treatment of a boy with ipex syndrome presenting with diabetes in early infancy
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878034/
https://www.ncbi.nlm.nih.gov/pubmed/31788263
http://dx.doi.org/10.1002/ccr3.2438
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