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Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene.
Mooster JL, Cancrini C, Simonetti A, Rossi P, Di Matteo G, Romiti ML, Di Cesare S, Notarangelo L, Geha RS, McDonald DR. Mooster JL, et al. J Allergy Clin Immunol. 2010 Jul;126(1):127-32.e7. doi: 10.1016/j.jaci.2010.04.026. Epub 2010 Jun 12. J Allergy Clin Immunol. 2010. PMID: 20542322 Free PMC article.
Compound heterozygous mutation of Rag1 leading to Omenn syndrome.
Matthews AG, Briggs CE, Yamanaka K, Small TN, Mooster JL, Bonilla FA, Oettinger MA, Butte MJ. Matthews AG, et al. Among authors: mooster jl. PLoS One. 2015 Apr 7;10(4):e0121489. doi: 10.1371/journal.pone.0121489. eCollection 2015. PLoS One. 2015. PMID: 25849362 Free PMC article.
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