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. IPEX syndrome (Immune dysregulation, Polyendocrinopath...

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Published inClinical case reports Vol. 7; no. 11; pp. 2123 - 2127
Main Authors Kadakia, Sejal, Farnaes, Lauge, Dimmock, David, Chowdhury, Shimul, Ding, Yan, Anderson, Eric J., Kingsmore, Stephen, Newfield, Ron S.
Format Journal Article
LanguageEnglish
Published England John Wiley & Sons, Inc 01.11.2019
John Wiley and Sons Inc
Wiley
Subjects
Age
autoimmunity
Babies
bone marrow transplantation
Case Report
Case Reports
Data analysis
Deoxyribonucleic acid
Dermatitis
Diabetes
diabetes mellitus
DNA
DNA methylation
Genomes
Genomics
infant
Mutation
Patients
Software
Stem cell transplantation
Transplants & implants
X‐linked
X‐linked
diabetes mellitus
autoimmunity
infant
bone marrow transplantation
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Summary: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. 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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.2438