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.

Complete bibliography