Featured publications
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.
Multiplexed Functional Assessment of Genetic Variants in CARD11
December 3, 2020
Meitlis I, Allenspach EJ, Bauman BM, Phan IQ, Dabbah G, Schmitt EG, Camp ND, Torgerson TR, Nickerson DA, Bamshad MJ, Hagin D, Luthers CR, Stinson JR, Gray J, Lundgren I, Church JA, Butte MJ, Jordan MB, Aceves SS, Schwartz DM, Milner JD, Schuval S, Skoda-Smith S, Cooper MA, Starita LM, Rawlings DJ, Snow AL, James RG. Multiplexed Functional Assessment of Genetic Variants in CARD11. Am J Hum Genet. 2020 Dec 3;107(6):1029-1043. doi: 10.1016/j.ajhg.2020.10.015. Epub 2020 Nov 16. PMID: 33202260; PMCID: PMC7820631.
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
- Early Is the Key for Treatment of Severe Combined ImmunodeficiencyCooper, M. A., Feb 1 2023, In: Journal of Immunology. 210, 3, p. 219-220 2 p.Research output: Contribution to journal › Article › peer-review
- STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulationMasle-Farquhar, E., Jackson, K. J. L., Peters, T. J., Al-Eryani, G., Singh, M., Payne, K. J., Rao, G., Avery, D. T., Apps, G., Kingham, J., Jara, C. J., Skvortsova, K., Swarbrick, A., Ma, C. S., Suan, D., Uzel, G., Chua, I., Leiding, J. W., Heiskanen, K., Preece, K., & 11 othersKainulainen, L., O'Sullivan, M., Cooper, M. A., Seppänen, M. R. J., Mustjoki, S., Brothers, S., Vogel, T. P., Brink, R., Tangye, S. G., Reed, J. H. & Goodnow, C. C., Dec 13 2022, In: […]
- A human STAT3 gain-of-function variant confers T cell dysregulation without predominant Treg dysfunction in miceSchmitt, E. G., Toth, K. A., Risma, S. I., Kolicheski, A., Saucier, N., Feliciano Berríos, R. J., Greenberg, Z. J., Leiding, J. W., Bleesing, J. J., Thatayatikom, A., Schuettpelz, L. G., Edwards, J. R., Vogel, T. P. & Cooper, M. A., Nov 8 2022, In: JCI Insight. 7, 21, e162695.Research output: Contribution to journal › Article › peer-review
- Morbidity, Mortality, and Therapeutics in Combined Immunodeficiency: Data From the USIDNET RegistryUSIDNET Consortium, May 2022, In: Journal of Allergy and Clinical Immunology: In Practice. 10, 5, p. 1334-1341.e6Research output: Contribution to journal › Article › peer-review
- Studying severe long COVID to understand post-infectious disorders beyond COVID-19The COVID Human Genetic Effort, May 1 2022, In: Nature medicine. 28, 5, p. 879-882 4 p.Research output: Contribution to journal › Letter › peer-review