[1] Choi Y, Sims GE, Murphy S, et al. Predicting the functional effect of amino acid substitutions and indels. PLoS One, 2012, 7(10): e46688. [2] Choi Y, Chan AP. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. Bioinformatics, 2015, 31(16): 2745-2747. [3] Stepensky P, Keller B, Buchta M, et al. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. J Allergy Clin Immunol, 2013, 131(2): 477-485. [4] Darte JM, Mcclure PD, Saunders EF, et al. Congenital lymphoid hyperplasia with persistent hyperlymphocytosis. N Engl J Med, 1971, 284(8): 431-432. [5] Arjunaraja S, Nose BD, Sukumar G, et al. Intrinsic Plasma Cell Differentiation Defects in B Cell Expansion with NF-kappaB and T Cell Anergy Patient B Cells. Front Immunol, 2017, 8: 913. [6] Snow AL, Xiao W, Stinson JR, et al. Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. J Exp Med, 2012, 209(12): 2247-2261. [7] Arjunaraja S, Angelus P, Su HC, et al. Impaired control of Epstein-Barr virus Infection in B-cell expansion with NF-kappaB and T-cell anergy disease. Front Immunol, 2018, 9: 198. [8] Chan W, Schaffer TB, Pomerantz JL. A quantitative signaling screen identifies CARD11 mutations in the CARD and LATCH domains that induce Bcl10 ubiquitination and human lymphoma cell survival. Mol Cell Biol, 2013, 33(2): 429-443. [9] Greil J, Rausch T, Giese T, et al. Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency. J Allergy Clin Immunol, 2013, 131(5): 1376-1383. [10] Ma CA, Stinson JR, Zhang Y, et al. Germline hypomorphic CARD11 mutations in severe atopic disease. Nat Genet, 2017, 49(8): 1192-1201. [11] Dorjbal B, Stinson JR, Ma CA, et al. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. J Allergy Clin Immunol, 2019, 143(4): 1482-1495. [12] Buchbinder D, Stinson JR, Nugent DJ, et al. Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation. J Allergy Clin Immunol, 2015, 136(3): 819-821. [13] Lenz G, Davis R E, Ngo V N, et al. Oncogenic CARD11 mutations in human diffuse large B cell lymphoma. Science, 2008, 319(5870): 1676-1679. [14] Eyre TA, Martinez-Calle N, Hildyard C, et al. Male gender is an independent predictor for worse survival and relapse in a large, consecutive cohort of elderly DLBCL patients treated with R-CHOP. Br J Haematol, 2019, 186(4): e94-e98. [15] Hedstrom G, Peterson S, Berglund M, et al. Male gender is an adverse risk factor only in young patients with diffuse large B-cell lymphoma-a Swedish population-based study. Acta Oncol, 2015, 54(6): 924-932. |