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Constitutive activation of WASp leads to abnormal cytotoxic cells with increased granzyme B and degranulation response to target cells.
Kritikou JS, Oliveira MM, Record J, Saeed MB, Nigam SM, He M, Keszei M, Wagner AK, Brauner H, Sendel A, Sedimbi SK, Rentouli S, Lane DP, Snapper SB, Kärre K, Vandenberghe P, Orange JS, Westerberg LS. Kritikou JS, et al. Among authors: orange js. JCI Insight. 2021 Mar 22;6(6):e140273. doi: 10.1172/jci.insight.140273. JCI Insight. 2021. PMID: 33621210 Free PMC article.
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: orange js. JCI Insight. 2022 Dec 8;7(23):e155481. doi: 10.1172/jci.insight.155481. JCI Insight. 2022. PMID: 36477361 Free PMC article.
The Wiskott-Aldrich syndrome.
Orange JS, Stone KD, Turvey SE, Krzewski K. Orange JS, et al. Cell Mol Life Sci. 2004 Sep;61(18):2361-85. doi: 10.1007/s00018-004-4086-z. Cell Mol Life Sci. 2004. PMID: 15378206 Free PMC article. Review.
376 results