Abstract
Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked, known as IPEX syndrome, is a rare heterogeneous condition. Zhu-Tokita-Takenouchi-Kim Syndrome (ZTTK) is an autosomal dominant condition arising from a mutation in the SON gene, which is involved in mRNA splicing. A case showing interactions of mutations in these two genes is described in which both conditions become non-typical.
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Abbreviations
- IPEX :
-
Immune dysregulation, enteropathy, polyendocrinopathy, X-linked syndrome
- ZTTK :
-
Zhu-Tokita-Takenouchi-Kim syndrome
- AFI :
-
Amniotic fluid index
- BMT :
-
Bone marrow transplant
- NICU :
-
Neonatal intensive care unit
- NEC :
-
Necrotizing enterocolitis
- CT :
-
Computed tomography
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Kylat, R.I., Stanley, K., Simon, S. et al. Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome due to a mutation in FOXP3, modified by a pathogenic variant in SON (SON DNA-binding protein). J Appl Genetics 64, 141–144 (2023). https://doi.org/10.1007/s13353-022-00728-6
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DOI: https://doi.org/10.1007/s13353-022-00728-6