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2021 3
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Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.
Nunes-Santos CJ, Kuehn H, Boast B, Hwang S, Kuhns DB, Stoddard J, Niemela JE, Fink DL, Pittaluga S, Abu-Asab M, Davies JS, Barr VA, Kawai T, Delmonte OM, Bosticardo M, Garofalo M, Carneiro-Sampaio M, Somech R, Gharagozlou M, Parvaneh N, Samelson LE, Fleisher TA, Puel A, Notarangelo LD, Boisson B, Casanova JL, Derfalvi B, Rosenzweig SD. Nunes-Santos CJ, et al. Among authors: boast b. Nat Commun. 2023 Jun 22;14(1):3708. doi: 10.1038/s41467-023-39272-0. Nat Commun. 2023. PMID: 37349293 Free PMC article.
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.
Boast B, Goel S, González-Granado LI, Niemela J, Stoddard J, Edwards ESJ, Seneviratne S, Spensberger D, Quesada-Espinosa JF, Allende LM, McDonnell J, Haseley A, Lesmana H, Walkiewicz MA, Muhammad E, Bosco JJ, Fleisher TA, Cohen S, Holland SM, van Zelm MC, Enders A, Kuehn HS, Rosenzweig SD. Boast B, et al. J Allergy Clin Immunol. 2023 Sep;152(3):736-747. doi: 10.1016/j.jaci.2023.05.017. Epub 2023 Jun 3. J Allergy Clin Immunol. 2023. PMID: 37277074 Free article.
A Point Mutation in IKAROS ZF1 Causes a B Cell Deficiency in Mice.
Boast B, Miosge LA, Kuehn HS, Cho V, Athanasopoulos V, McNamara HA, Sontani Y, Mei Y, Howard D, Sutton HJ, Omari SA, Yu Z, Nasreen M, Andrews TD, Cockburn IA, Goodnow CC, Rosenzweig SD, Enders A. Boast B, et al. J Immunol. 2021 Apr 1;206(7):1505-1514. doi: 10.4049/jimmunol.1901464. Epub 2021 Mar 3. J Immunol. 2021. PMID: 33658297 Free PMC article.
T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.
Kuehn HS, Chang J, Yamashita M, Niemela JE, Zou C, Okuyama K, Harada J, Stoddard JL, Nunes-Santos CJ, Boast B, Baxter RM, Hsieh EWY, Garofalo M, Fleisher TA, Morio T, Taniuchi I, Dutmer CM, Rosenzweig SD. Kuehn HS, et al. Among authors: boast b. J Exp Med. 2021 Dec 6;218(12):e20211118. doi: 10.1084/jem.20211118. Epub 2021 Oct 25. J Exp Med. 2021. PMID: 34694366 Free PMC article.