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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: allenspach ej. JCI Insight. 2022 Dec 8;7(23):e155481. doi: 10.1172/jci.insight.155481. JCI Insight. 2022. PMID: 36477361 Free PMC article.
Health Equity Implications of Missing Data Among Youths With Childhood-Onset Systemic Lupus Erythematosus: A Proof-of-Concept Study in the Childhood Arthritis and Rheumatology Research Alliance Registry.
Woo JMP, Simmonds F, Dennos A, Son MBF, Lewandowski LB, Rubinstein TB; CARRA Registry investigators. Woo JMP, et al. Arthritis Care Res (Hoboken). 2023 Nov;75(11):2285-2294. doi: 10.1002/acr.25136. Epub 2023 May 30. Arthritis Care Res (Hoboken). 2023. PMID: 37093036
First-line options for systemic juvenile idiopathic arthritis treatment: an observational study of Childhood Arthritis and Rheumatology Research Alliance Consensus Treatment Plans.
Beukelman T, Tomlinson G, Nigrovic PA, Dennos A, Del Gaizo V, Jelinek M, Riordan ME, Schanberg LE, Mohan S, Pfeifer E, Kimura Y; CARRA FROST Investigators. Beukelman T, et al. Pediatr Rheumatol Online J. 2022 Dec 8;20(1):113. doi: 10.1186/s12969-022-00768-6. Pediatr Rheumatol Online J. 2022. PMID: 36482434 Free PMC article.
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. Among authors: allenspach ej. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.
Stock AJ, Gonzalez Paredes P, de Almeida LP, Kosanke SD, Chetlur S, Budde H, Wakenight P, Zwingman TA, Rosen ABI, Allenspach EJ, Millen KJ, Buckner JH, Rawlings DJ, Gorman JA. Stock AJ, et al. Among authors: allenspach ej. Front Immunol. 2024 Feb 29;15:1349601. doi: 10.3389/fimmu.2024.1349601. eCollection 2024. Front Immunol. 2024. PMID: 38487540 Free PMC article.
46 results