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L-plastin associated syndrome of immune deficiency and haematological cytopenia (PASIC).
Hernandez RA, Hearn JI, Bhoopalan V, Hamzeh AR, Kwong K, Diamand K, Davies A, Li FJ, Padmanabhan H, Milne R, Ballard F, Spensberger D, Gardiner EE, Miraghazadeh B, Enders A, Cook MC. Hernandez RA, et al. Among authors: enders a. J Allergy Clin Immunol. 2024 May 4:S0091-6749(24)00458-5. doi: 10.1016/j.jaci.2024.05.001. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 38710235 Free article.
Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity.
Zhang Y, Morris R, Brown GJ, Lorenzo AMD, Meng X, Kershaw NJ, Kiridena P, Burgio G, Gross S, Cappello JY, Shen Q, Wang H, Turnbull C, Lea-Henry T, Stanley M, Yu Z, Ballard FD, Chuah A, Lee JC, Hatch AM, Enders A, Masters SL, Headley AP, Trnka P, Mallon D, Fletcher JT, Walters GD, Šestan M, Jelušić M, Cook MC, Athanasopoulos V, Fulcher DA, Babon JJ, Vinuesa CG, Ellyard JI. Zhang Y, et al. Among authors: enders a. J Exp Med. 2024 Apr 1;221(4):e20221080. doi: 10.1084/jem.20221080. Epub 2024 Feb 28. J Exp Med. 2024. PMID: 38417019 Free PMC article.
DOCK2-deficiency causes defects in anti-viral T cell responses and impaired control of herpes simplex virus infection.
Randall KL, Flesch IEA, Mei Y, Miosge LA, Aye R, Yu Z, Domaschenz H, Hollett NA, Russell TA, Stefanovic T, Wong YC, Seneviratne S, Ballard F, Hernandez Gallardo R, Croft SN, Goodnow CC, Bertram EM, Enders A, Tscharke DC. Randall KL, et al. Among authors: enders a. J Infect Dis. 2024 Feb 15:jiae077. doi: 10.1093/infdis/jiae077. Online ahead of print. J Infect Dis. 2024. PMID: 38366567
Zeb2 drives the formation of CD11c+ atypical B cells to sustain germinal centers that control persistent infection.
Gao X, Shen Q, Roco JA, Dalton B, Frith K, Munier CML, Ballard FD, Wang K, Kelly HG, Nekrasov M, He JS, Jaeger R, Carreira P, Ellyard JI, Beattie L, Enders A, Cook MC, Zaunders JJ, Cockburn IA. Gao X, et al. Among authors: enders a. Sci Immunol. 2024 Mar 29;9(93):eadj4748. doi: 10.1126/sciimmunol.adj4748. Epub 2024 Mar 29. Sci Immunol. 2024. PMID: 38330097
DOCK2-deficiency causes defects in anti-viral T cell responses and poor control of herpes simplex virus infection.
Randall KL, Flesch IEA, Mei Y, Miosge LA, Aye R, Yu Z, Domaschenz H, Hollett NA, Russell TA, Stefanovic T, Wong YC, Goodnow CC, Bertram EM, Enders A, Tscharke DC. Randall KL, et al. Among authors: enders a. bioRxiv [Preprint]. 2023 Aug 3:2023.08.02.551154. doi: 10.1101/2023.08.02.551154. bioRxiv. 2023. PMID: 37577614 Free PMC article. Updated. Preprint.
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. Among authors: enders a. 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.
387 results