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A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton.
Janssen E, Tohme M, Hedayat M, Leick M, Kumari S, Ramesh N, Massaad MJ, Ullas S, Azcutia V, Goodnow CC, Randall KL, Qiao Q, Wu H, Al-Herz W, Cox D, Hartwig J, Irvine DJ, Luscinskas FW, Geha RS. Janssen E, et al. J Clin Invest. 2016 Oct 3;126(10):3837-3851. doi: 10.1172/JCI85774. Epub 2016 Sep 6. J Clin Invest. 2016. PMID: 27599296 Free PMC article.
Heterozygosity for transmembrane activator and calcium modulator ligand interactor A144E causes haploinsufficiency and pneumococcal susceptibility in mice.
Jabara HH, Lee JJ, Janssen E, Ullas S, Liadaki K, Garibyan L, Benson H, Sannikova T, Bram R, Hammarstrom L, Cruz AC, Siegel R, Manis J, Malley R, Geha RS. Jabara HH, et al. J Allergy Clin Immunol. 2017 Apr;139(4):1293-1301.e4. doi: 10.1016/j.jaci.2016.07.028. Epub 2016 Sep 5. J Allergy Clin Immunol. 2017. PMID: 27609654 Free PMC article.
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.
Massaad MJ, Zhou J, Tsuchimoto D, Chou J, Jabara H, Janssen E, Glauzy S, Olson BG, Morbach H, Ohsumi TK, Schmitz K, Kyriacos M, Kane J, Torisu K, Nakabeppu Y, Notarangelo LD, Chouery E, Megarbane A, Kang PB, Al-Idrissi E, Aldhekri H, Meffre E, Mizui M, Tsokos GC, Manis JP, Al-Herz W, Wallace SS, Geha RS. Massaad MJ, et al. J Clin Invest. 2016 Nov 1;126(11):4219-4236. doi: 10.1172/JCI85647. Epub 2016 Oct 17. J Clin Invest. 2016. PMID: 27760045 Free PMC article.