8 citations
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August 2009 in “Pediatric transplantation” A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.
2 citations
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May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
30 citations
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
5 citations
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August 2012 in “Experimental Dermatology” Artemis phosphorylation at Ser516 may help regulate skin and hair structures.