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
- STAT1 Gain-of-Function Leading to Clinical Behçet’s SyndromeSTAT1 Behçet’s working group, Aug 2023, In: Journal of Clinical Immunology. 43, 6, p. 1155-1158 4 p.Research output: Contribution to journal › Letter › peer-review
- Deficiencies and Dysregulation of STAT Pathways That Drive Inborn Errors of Immunity: Lessons from Patients and Mouse Models of DiseaseToth, K. A., Schmitt, E. G. & Cooper, M. A., May 15 2023, In: Journal of Immunology. 210, 10, p. 1463-1472 10 p.Research output: Contribution to journal › Review article › peer-review
- Metabolic regulation of NK cell antiviral functions during cytomegalovirus infectionCimpean, M. & Cooper, M. A., May 2 2023, In: Journal of Leukocyte Biology. 113, 5, p. 525-534 10 p.Research output: Contribution to journal › Review article › peer-review
- Somatic mosaicism in inborn errors of immunity: Current knowledge, challenges, and future perspectivesAluri, J. & Cooper, M. A., May 2023, In: Seminars in immunology. 67, 101761.Research output: Contribution to journal › Review article › peer-review
- Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndromeSTAT3 GOF Working Group members & Cooper, M. A., Apr 2023, In: Journal of Allergy and Clinical Immunology. 151, 4, p. 1081-1095 15 p.Research output: Contribution to journal › Article › peer-review