Primary Literature Articles:     

  1. Olyha SJ, O'Connor SK, Kribis M, Bucklin ML, Uthaya Kumar DB, Tyler PM, Alam F, Jones KM, Sheikha H, Konnikova L, Lakhani SA, Montgomery RR, Catanzaro J, Du H, DiGiacomo DV, Rothermel H, Moran CJ, Fiedler K, Warner N, Hoppenreijs EPAH, van der Made CI, Hoischen A, Olbrich P, Neth O, Rodríguez-Martínez A, Lucena Soto JM, van Rossum AMC, Dalm VASH, Muise AM, Lucas CL. "Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease. J Clin Immunol. 2024 Jan 17;44(2):44. doi: 10.1007/s10875-023-01610-8. PUBMED LINK

  2. Barmada A*, Klein J*, Ramaswamy A, Brodsky NN, Jaycox JR, Sheikha H, Jones KM, Habet V, Campbell M, Sumida TS, Kontorovich A, Bogunovic D, Oliveira CR, Steele J, Hall EK, Pena-Hernandez M, Monteiro V, Lucas C, Ring AM, Omer SB, Iwasaki A#, Yildirim I#, Lucas CL#. Shared first* and corresponding# authorship. “Cytokinopathy with aberrant cytotoxic lymphocytes and profibrotic myeloid response in SARS-CoV-2 mRNA vaccine-associated myocarditis.” Science Immunology. 2023 May; 8(83):eadh3455. doi: 10.1126/sciimmunol.adh3455. PUBMED LINK

  3. Tyler PM, Bucklin ML, Zhao M, Maher TJ, Rice AJ, Ji W, Warner N, Pan J, Morotti R, McCarthy P, Griffiths A, van Rossum AMC, Hollink IHIM, Dalm VASH, Catanzaro J, Lakhani SA, Muise AM, Lucas CL. “Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation.” Nature Immunology. 2021 Jul 29. doi: 10.1038/s41590-021-00984-4. PUBMED LINK

  4. Ramaswamy A, Brodsky NN, Sumida TS, Comi M, Asashima H, Hoehn KB, Li N, Liu Y, Shah A, Ravindra NG, Bishai J, Khan A, Lau W, Sellers B, Bansal N, Guerrerio P, Unterman A, Habet V, Rice AJ, Catanzaro J, Chandnani H, Lopez M, Kaminski N, Dela Cruz CS, Tsang JS, Wang Z, Yan X, Kleinstein SH, van Dijk D, Pierce RW, Hafler DA, Lucas CL. “Immune dysregulation and autoreactivity correlate with disease severity in SARS-CoV-2-associated multisystem inflammatory syndrome in children.” Immunity. 2021 May 11;54(5):1083-1095.e7. doi: 10.1016/j.immuni.2021.04.003. Epub 2021 Apr 13. PUBMED LINK

  5. Brooks JP, Rice AJ, Ji W, Lanahan SM, Konstantino M, Dara J, Hershfield MS, Cruickshank A, Dokmeci E, Lakhani S, Lucas CL. “Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2).” Journal of Clinical Immunology. 2021 Apr;41(3):680-683. doi: 10.1007/s10875-020-00940-1. Epub 2021 Jan 4. PUBMED LINK

  6. Brodsky N, Boyarchuk O, Kovalchuk T, Hariyan T, Rice AJ, Ji W, Khokha M, Lakhani S, Lucas CL. “Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome.” Journal of Human Genetics. 2020 Oct;65(10):911-915. doi: 10.1038/s10038-020-0776-0. Epub 2020 May 21. PUBMED LINK

  7. Thian M, Hoeger B, Kamnev A, Poyer F, Köstel Bal S, Caldera M, Jiménez-Heredia R, Huemer J, Pickl WF, Groß M, Ehl S, Lucas  CL, Menche J, Hutter C, Attarbaschi A, Dupré L, Boztug K. “Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation.” Haematologica. 2020 Oct 1;105(10):e488  doi: 10.3324/haematol.2019.231399. PUBMED LINK

  8. Takeda AJ, Maher TJ, Zhang Y, Lanahan SM, Bucklin ML, Compton SR, Tyler PM, Comrie WA, Matsuda M, Olivier KN, Pittaluga S, McElwee JJ, Long Priel DA, Kuhns DB, Williams RL, Mustillo PJ, Wymann MP, Koneti Rao V, Lucas CL. “Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology.” Nature Communications. 2019 Sep 25; doi: 10.1038/s41467-019-12311-5. PUBMED LINK

  9. Takeda AJ, Zhang Y, Dornan GL, Siempelkamp BD, Jenkins ML, Matthews HF, McElwee JJ, Bi W, Seeborg FO, Su HC, Burke JE, and Lucas CL. “Novel PIK3CD mutations affecting N-terminal residues of p110d cause hyperactive PI3K signaling and APDS1 in humans. J Allergy Clin Immunol. 2017 Apr 13. pii: S0091-6749(17)30587-0. PUBMED LINK

  10. Dornan GL, Siempelkamp BD, Jenkins ML, Vadas O, Lucas CL, and Burke JE. “Conformational disruption of PI3Kd regulation by immunodeficiency mutations in PIK3CD and PIK3R1.” Proc Natl Acad Sci U S A. 2017 Feb 21;114(8):1982-1987. PUBMED LINK

  11. Elkaim E, Neven B, Bruneau J, Mitsui-Sekinaka K, Stanislas A, Heurtier L, Lucas CL, Matthews H, Deau MC, Sharapova S, Curtis J, Reichenbach J, Glastre C, Parry DA, Arumugakani G, McDermott E, Kilic SS, Yamashit M, Moshous D, Lamrini H, Otremba B, Gennery A, Coulter T, Quinti I, Stephan JL, Lougaris V, Brodszki N, Barlogis V, Asano T, Galicier L, Boutboul D, Nonoyama S, Cant A, Imai K, Picard C, Nejentsev S, Molina TJ, Lenardo M, Savic S, Cavazzana M, Fischer A, Durandy A, Kracker S. “Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase delta syndrome 2: A cohort study.” Journal of Allergy and Clinical Immunology. 138(1):210-218. PUBMED LINK

  12. Lucas CL, Zhang Y, Venida A, Wang Y, Hughes J, McElwee J, Butrick M, Matthews M, Price S, Biancalana M, Wang X, Richards M, Pozos T, Barlan I, Ozen A, Rao VK, Su HC, Lenardo MJ. “Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.” Journal of Experimental Medicine. 211(13):2537-47. Epub 2014 Dec 8. PUBMED LINK

  13. Lucas CL*, Kuehn HS*, Zhao F*, Niemela JE, Deenick EK, Palendira U, Avery DT, Moens L, Cannons JL, Biancalana M, Stoddard J, Ouyang W, Frucht DM, Rao VK, Atkinson TP, Agharahimi A, Hussey AA, Folio LR, Olivier KN, Fleisher TA, Pittaluga S, Holland SM, Cohen JI, Oliveira JB, Tangye SG, Schwartzberg PL, Lenardo MG, and Uzel G. *Shared first authorship. “Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110d result in T cell senescence and human immunodeficiency.” Nature Immunology. 15(1):88-97. Epub 2013 Oct 28. PUBMED LINK

  14. Chaigne-Delalande B, Li F-Y, O’Connor GM, Lukacs M, Biancalana M, Zheng L, Shatzer A, Pittaluga S, Matthews HF, Jancel T, Hetherington M, Bleesing JJ, Kuijpers TW, Lucas CL, Nagpal S, Mehmet H, Su HC, Cohen JI, Uzel G, and Lenardo MJ. “Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D. Science. 341(6142):186-91.” PUBMED LINK

  15. Haspot F*, Li HW*, Lucas CL*, Fehr T, Beyaz S, and Sykes M. *Shared first authorship. “Allospecific rejection of MHC class I-deficient bone marrow by CD8 T cells.” American Journal of Transplantation. 14(1):49-58. PUBMED LINK

  16. Lo B, Swafford ADE, Shafer-Weaver KA, Jerome LF, Rakhlin L, Mathern DR, Callahan CA, Jiang P, Davison LJ, Stevens HE, Lucas CL, White J, von Borstel R, Todd JA, and Lenardo MJ. “Antibodies against insulin measured by electrochemiluminescence predict insulitis severity and disease onset in non-obese diabetic mice and can distinguish human type 1 diabetes status.” Journal of Translational Medicine. 9:203. PUBMED LINK

  17. Lucas CL, Workman CJ, Beyaz S, LoCascio S, Zhao G, Vignali DAA, and Sykes M.  (2011). LAG-3, TGF-β, and cell-intrinsic PD-1 inhibitory pathways contribute to CD8 but not CD4 T cell tolerance induced by allogeneic BMT with anti-CD40L. Blood. 117(20):5532-40. PUBMED LINK

  18. Hermanrud C, Lucas CL, Sykes M, Huang CA, and Wang Z.  (2011). Construction, expression and purification of the soluble single chain murine CD40 ligand monomer, dimer and trimer in yeast Pichia pastoris. Protein Expression and Purification. 76(1):115-20. PUBMED LINK

  19. Fehr T*, Lucas CL*, Kurtz J, Onoe T, Zhao G, Hogan T, Vallot C, Rao A, Sykes M. *Shared first authorship. (2010).  A CD8 T cell-intrinsic role for the calcineurin-NFAT pathway for tolerance induction in vivoBlood.  115(6):1280-7. PUBMED LINK

  20. Mollov J*, Lucas CL*, Haspot F*, Kurtz J, Gaspar C, Guzman A, Sykes M. *Shared first authorship. (2010). Recipient dendritic cells, but not B cells, are required antigen-presenting cells for peripheral alloreactive CD8 T cell tolerance. American Journal of Transplantation. 10(3):518-26. PUBMED LINK

  21. Haspot F, Fehr T, Gibbons C, Zhao G, Hogan T, Honjo T, Freeman G, Sykes M. (2008).  Peripheral deletional tolerance of alloreactive CD8 but not CD4 T cells is dependent on the PD-1/PD-L1 pathway.  Blood. 112(5): 2149-55. PUBMED LINK

  22. Dackor RT, Fritz-Six K, Dunworth W, Gibbons C, Smithies O, Caron KM. (2006). Hydrops fetalis, cardiovascular defects and embryonic lethality in mice lacking the calcitonin receptor-like receptor gene. Molecular and Cellular Biology. 26(7): 2511-8. PUBMED LINK

 

Reviews, Commentaries, and Book Chapters: 

  1. Lucas CL. "Human genetic errors of immunity illuminate an adaptive arsenal model of rapid defenses." Trends Immunol. 2024 Feb;45(2):113-126. doi: 10.1016/j.it.2023.12.006. PUBMED LINK

  2. Cant AJ, Chandra A, Munro E, Rao VK, Lucas CL. "PI3Kδ Pathway Dysregulation and Unique Features of Its Inhibition by Leniolisib in Activated PI3Kδ Syndrome and Beyond." J Allergy Clin Immunol Pract. 2024 Jan;12(1):69-78. doi: 10.1016/j.jaip.2023.09.016. PUBMED LINK

  3. Lanahan SM, Wymann MP, Lucas CL. "The role of PI3Kγ in the immune system: new insights and translational implications." Nat Rev Immunol. 2022 Nov;22(11):687-700. doi: 10.1038/s41577-022-00701-8. PUBMED LINK

  4. Barmada A, Ramaswamy A, Lucas CL. “Maximizing insights from monogenic immune disorders.” Current Opinion in Immunology. 2021 Dec; 73:50–57. doi: 10.1016/j.coi.2021.09.008. PUBMED LINK

  5. Sancho-Shimizu V, Brodin P, Cobat A, Biggs CM, Toubiana J, Lucas CL, Henrickson SE, Belot A; MIS-C@CHGE, Tangye SG, Milner JD, Levin M, Abel L, Bogunovic D, Casanova JL, Zhang SY. “SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?” Journal of Experimental Medicine. 2021 Jun 7;218(6):e20210446. doi: 10.1084/jem.20210446. PUBMED LINK

  6. Lucas CL, Tangye SG. “Editorial: Human Disorders of PI3K Biology.” Frontiers in Immunology. 2020 Nov 26;11:617464. doi: 10.3389/fimmu.2020.617464. PUBMED LINK

  7. Brodsky NN, Lucas CL. “Infections in activated PI3K delta syndrome (APDS).” Current Opinion in Immunology. 2021 May 27;72:146-157. doi: 10.1016/j.coi.2021.04.010. PUBMED LINK

  8. Brodsky NN, Ramaswamy A, Lucas CL. “The Mystery of MIS-C Post-SARS-CoV-2 Infection”. Trends In Microbiology. 2020 Dec;28(12):956-958. doi: 10.1016/j.tim.2020.10.004. Epub 2020 Oct 14. PUBMED LINK

  9. Casanova JL, Su HC; COVID Human Genetic Effort. “A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection.” Cell. 2020 Jun 11;181(6):1194-1199. doi: 10.1016/j.cell.2020.05.016. Epub 2020 May 13. PUBMED LINK

  10. Carpier JM and Lucas CL. “EBV susceptibility in Activated PI3Kdelta Syndrome (APDS) immunodeficiency.” Frontiers in Immunology. 2017 Dec;16. ARTICLE LINK

  11. Lucas CL, Chandra A, Nejentsev S, Condliffe AM, and Okkenhaug K. “Activating PI3Kd mutations and primary immunodeficiency.” Nature Reviews Immunology. 2016 Nov;16(11):702-14. PUBMED LINK

  12. Lenardo M, Lo B, and Lucas CL. “Genomics of immune diseases and new therapies.” Annual Review of Immunology. 2016 May 20;34:121-49. Epub 2015 Dec 23. PUBMED LINK

  13. Lucas CL and Lenardo MJ. “Identifying genetic determinants of autoimmunity and immune dysregulation.” Current Opinions in Immunology. 37:28-33. Epub 2015 Oct 2. PUBMED LINK

  14. Lucas CL and Lenardo MJ. (2013). Molecular Basis of Cell Death Programs in Mature T Cell Homeostasis. Chapter in Cell Death: Mechanism and Disease. Springer Science. Editor: Hao Wu. SPRINGER LINK

  15. Lucas CL and Sykes M. (2011). Layers of regulation in induction of mixed chimerism by anti-CD40L. Chimerism. 2(4):111-113. PUBMED LINK

  16. Del Rio ML, Lucas CL, Rayat G, Buhler L, Rodriguez-Barboza JI. (2009). HVEM/BTLA/CD160/LIGHT co-signaling pathways as targets for immune regulation. Journal of Leukocyte Biology. 87(2):223-35. PUBMED LINK

  17. Del Rio ML, Buhler L, Gibbons C, Tian J, Rodriguez-Barboza JI. (2008). PD-1/PD-L1, PD-1/PD-L2, and other co-inhibitory signaling pathways in transplantation. Transplant International. 21(11):1015-28. PUBMED LINK

  18. Gibbons C and Sykes M. (2008). Manipulating the immune system for anti-tumor responses and transplant tolerance via mixed hematopoietic chimerism. Immunological Reviews. 223:334-60. PUBMED LINK

  19. Gibbons C, Dackor R, Dunworth W, Fritz-Six K, Caron KM. (2007). Receptor activity-modifying proteins: “RAMP”ing up adrenomedullin signaling. Molecular Endocrinology. 21(4): 783-96. PUBMED LIN

Current as of February 2024