Publications

Featured publications

Deficiencies and Dysregulation of STAT Pathways That Drive Inborn Errors of Immunity: Lessons from Patients and Mouse Models of Disease

May 15, 2023

Toth KA, Schmitt EG, Cooper MA. Deficiencies and Dysregulation of STAT Pathways That Drive Inborn Errors of Immunity: Lessons from Patients and Mouse Models of Disease. J Immunol. 2023 May 15;210(10):1463-1472. doi: 10.4049/jimmunol.2200905. PMID: 37126806; PMCID: PMC10151837.

A human STAT3 gain-of-function variant confers T cell dysregulation without predominant Treg dysfunction in mice

November 8, 2022

Schmitt EG, Toth KA, Risma SI, Kolicheski A, Saucier N, Berríos RJF, Greenberg ZJ, Leiding JW, Bleesing JJ, Thatayatikom A, Schuettpelz LG, Edwards JR, Vogel TP, Cooper MA. A human STAT3 gain-of-function variant confers T cell dysregulation without predominant Treg dysfunction in mice. JCI Insight. 2022 Nov 8;7(21):e162695. doi: 10.1172/jci.insight.162695. PMID: 36136607; PMCID: PMC9675480.

Reliance on Cox10 and oxidative metabolism for antigen-specific NK cell expansion

June 1, 2021

Mah-Som AY, Keppel MP, Tobin JM, Kolicheski A, Saucier N, Sexl V, French AR, Wagner JA, Fehniger TA, Cooper MA. Reliance on Cox10 and oxidative metabolism for antigen-specific NK cell expansion. Cell Rep. 2021 Jun 1;35(9):109209. doi: 10.1016/j.celrep.2021.109209. PMID: 34077722; PMCID: PMC8229496.

Genetic Mosaicism as a Cause of Inborn Errors of Immunity

May 1, 2021

Aluri J, Cooper MA. Genetic Mosaicism as a Cause of Inborn Errors of Immunity. J Clin Immunol. 2021 May;41(4):718-728. doi: 10.1007/s10875-021-01037-z. Epub 2021 Apr 16. PMID: 33864184; PMCID: PMC8068627.

Genetics of Pediatric Immune-Mediated Diseases and Human Immunity

April 26, 2021

Schmitt EG, Cooper MA. Genetics of Pediatric Immune-Mediated Diseases and Human Immunity. Annu Rev Immunol. 2021 Apr 26;39:227-249. doi: 10.1146/annurev-immunol-093019-124513. Epub 2021 Feb 3. PMID: 33534603.

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function

May 6, 2021

Aluri J, Bach A, Kaviany S, Chiquetto Paracatu L, Kitcharoensakkul M, Walkiewicz MA, Putnam CD, Shinawi M, Saucier N, Rizzi EM, Harmon MT, Keppel MP, Ritter M, Similuk M, Kulm E, Joyce M, de Jesus AA, Goldbach-Mansky R, Lee YS, Cella M, Kendall PL, Dinauer MC, Bednarski JJ, Bemrich-Stolz C, Canna SW, Abraham SM, Demczko MM, Powell J, Jones SM, Scurlock AM, De Ravin SS, Bleesing JJ, Connelly JA, Rao VK, Schuettpelz LG, Cooper MA. Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function. Blood. 2021 May 6;137(18):2450-2462. doi: 10.1182/blood.2020009620. PMID: 33512449; PMCID: PMC8109013.

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

January 22, 2015

Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O’Connell MP, Price S, Su HC, Butrick M, McElwee J, Hughes JD, Willet J, Swan D, Xu Y, Santibanez-Koref M, Slowik V, Dinwiddie DL, Ciaccio CE, Saunders CJ, Septer S, Kingsmore SF, White AJ, Cant AJ, Hambleton S, Cooper MA. Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. Blood. 2015 Jan 22;125(4):591-9. doi: 10.1182/blood-2014-09-602763. Epub 2014 Oct 30. PMID: 25359994; PMCID: PMC4304103.9013.

Recent publications

  • Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (Genome Medicine, (2023), 15, 1, (22), 10.1186/s13073-023-01173-8)
    Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (Genome Medicine, (2023), 15, 1, (22), 10.1186/s13073-023-01173-8)French COVID Cohort Study Group, CoV-Contact Cohort, COVID-STORM Clinicians, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, COVID Human Genetic Effort, COVID Human Genetic Effort & COVIDeF Study Group, Dec 2024, In: Genome medicine. 16, 1, 6.Research output: Contribution to journal › Comment/debate
  • A human STAT3 gain-of-function variant drives local Th17 dysregulation and skin inflammation in mice
    A human STAT3 gain-of-function variant drives local Th17 dysregulation and skin inflammation in miceToth, K. A., Schmitt, E. G., Kolicheski, A., Greenberg, Z. J., Levendosky, E., Saucier, N., Trammel, K., Oikonomou, V., Lionakis, M. S., Klechevsky, E., Kim, B. S., Schuettpelz, L. G., Saligrama, N. & Cooper, M. A., Aug 5 2024, In: Journal of Experimental Medicine. 221, 8, e20232091.Research output: Contribution to journal › Article › peer-review
  • MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks
    MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaksMathias, B., O'Leary, D., Saucier, N., Ahmad, F., White, L. S., Russell, L. M., Shinawi, M., Smith, M. J., Abraham, R. S., Cooper, M. A., Kitcharoensakkul, M., Green, A. M. & Bednarski, J. J., Apr 2024, In: Journal of Allergy and Clinical Immunology. 153, 4, p. 1113-1124.e7Research output: Contribution to journal › Article › peer-review
  • Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome
    Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndromeDelafontaine, S., Iannuzzo, A., Bigley, T. M., Mylemans, B., Rana, R., Baatsen, P., Poli, M. C., Rymen, D., Jansen, K., Mekahli, D., Casteels, I., Cassiman, C., Demaerel, P., Lepelley, A., Frémond, M. L., Schrijvers, R., Bossuyt, X., Vints, K., Huybrechts, W. & Tacine, R. & 14 others, Willekens, K., Corveleyn, A., Boeckx, B., Baggio, M., Ehlers, L., Munck, S., Lambrechts, D., Voet, A., Moens, L., Bucciol, G., Cooper, M. A., Davis, C. M., Delon, J. & Meyts, I., Feb 15 2024, In: Journal of Clinical Investigation. 134, 4, […]
  • Management of Atopy with Dupilumab and Omalizumab in CADINS Disease
    Management of Atopy with Dupilumab and Omalizumab in CADINS DiseaseDiaz-Cabrera, N. M., Bauman, B. M., Iro, M. A., Dabbah-Krancher, G., Molho-Pessach, V., Zlotogorski, A., Shamriz, O., Dinur-Schejter, Y., Sharon, T. D., Stepensky, P., Tal, Y., Eisenstein, E. M., Pietzsch, L., Schuetz, C., Abreu, D., Coughlin, C. C., Cooper, M. A., Milner, J. D., Williams, A. & Armoni-Weiss, G. & 2 others, Snow, A. L. & Leiding, J. W., Feb 2024, In: Journal of Clinical Immunology. 44, 2, 48.Research output: Contribution to journal › Article › peer-review
  • Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children
    Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in childrenCOVID Clinicians, GEN-COVID Study Group & COVID Human Genetic Effort, 2024, In: Journal of Experimental Medicine. 221, 2, e20231353.Research output: Contribution to journal › Article › peer-review
  • Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency
    Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiencyAlinger, J. B., Mace, E. M., Porter, J. R., Mah-Som, A. Y., Daugherty, A. L., Li, S., Throm, A. A., Pingel, J. T., Saucier, N., Yao, A., Chinn, I. K., Lupski, J. R., Ehlayel, M., Keller, M., Bowman, G. R., Cooper, M. A., Orange, J. S. & French, A. R., Jan 2024, In: Journal of Allergy and Clinical Immunology. 153, 1, p. 216-229 14 p.Research output: Contribution to journal › Article › peer-review
  • Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
    Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19NIAID-USUHS COVID Study Group, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID Clinicians, COVID-STORM Clinicians, Amsterdam UMC Covid-19 Biobank, Orchestra Working Group & Cooper, M. A., Dec 2023, In: Genome medicine. 15, 1, 22.Research output: Contribution to journal › Article › peer-review
  • Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs
    Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNsCOVID HGE Consortium, French COVID Study Group & Consortium, Dec 2023, In: Science immunology. 8, 90, eabp8966.Research output: Contribution to journal › Article › peer-review
  • IL-15 Priming Alters IFN-g Regulation in Murine NK Cells
    IL-15 Priming Alters IFN-g Regulation in Murine NK CellsCimpean, M., Keppel, M. P., Gainullina, A., Fan, C., Sohn, H., Schedler, N. C., Swain, A., Kolicheski, A., Shapiro, H., Young, H. A., Wang, T., Artyomov, M. N. & Cooper, M. A., Nov 15 2023, In: Journal of Immunology. 211, 10, p. 1481-1493 13 p.Research output: Contribution to journal › Article › peer-review

Complete bibliography

Megan Cooper’s research output