Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

Background: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome is a rare recessive disorder caused by mutations in the FOXP3 gene. In addition, there has been an increasing number of patients with wild-type FOXP3 gene and, in some cases, mutations in other immune regulat...

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Veröffentlicht in:Front Immunol
Hauptverfasser: Gambineri, Eleonora, Ciullini Mannurita, Sara, Hagin, David, Vignoli, Marina, Anover-Sombke, Stephanie, DeBoer, Stacey, Segundo, Gesmar R. S., Allenspach, Eric J., Favre, Claudio, Ochs, Hans D., Torgerson, Troy R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2018
Schlagworte:
Immunology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6223101/
https://ncbi.nlm.nih.gov/pubmed/30443250
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2018.02411
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