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An ELF4 hypomorphic variant results in NK cell deficiency.
Salinas SA, Mace EM, Conte MI, Park CS, Li Y, Rosario-Sepulveda JI, Mahapatra S, Moore EK, Hernandez ER, Chinn IK, Reed AE, Lee BJ, Frumovitz A, Gibbs RA, Posey JE, Forbes Satter LR, Thatayatikom A, Allenspach EJ, Wensel TG, Lupski JR, Lacorazza HD, Orange JS. Salinas SA, et al. Among authors: mace em. JCI Insight. 2022 Dec 8;7(23):e155481. doi: 10.1172/jci.insight.155481. JCI Insight. 2022. PMID: 36477361 Free PMC article.
The autoimmune regulator (AIRE), which is defective in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients, is expressed in human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17.
Kumar V, Pedroza LA, Mace EM, Seeholzer S, Cotsarelis G, Condino-Neto A, Payne AS, Orange JS. Kumar V, et al. Among authors: mace em. Am J Pathol. 2011 Mar;178(3):983-8. doi: 10.1016/j.ajpath.2010.12.007. Am J Pathol. 2011. PMID: 21356351 Free PMC article.
Autoimmune regulator (AIRE) contributes to Dectin-1-induced TNF-α production and complexes with caspase recruitment domain-containing protein 9 (CARD9), spleen tyrosine kinase (Syk), and Dectin-1.
Pedroza LA, Kumar V, Sanborn KB, Mace EM, Niinikoski H, Nadeau K, Vasconcelos Dde M, Perez E, Jyonouchi S, Jyonouchi H, Banerjee PP, Ruuskanen O, Condino-Neto A, Orange JS. Pedroza LA, et al. Among authors: mace em. J Allergy Clin Immunol. 2012 Feb;129(2):464-72, 472.e1-3. doi: 10.1016/j.jaci.2011.08.027. Epub 2011 Sep 29. J Allergy Clin Immunol. 2012. PMID: 21962774
Multiple distinct NK-cell synapses.
Mace EM, Orange JS. Mace EM, et al. Blood. 2011 Dec 15;118(25):6475-6. doi: 10.1182/blood-2011-10-381392. Blood. 2011. PMID: 22174302 Free article.
128 results