Joshua Tobin

Program: Immunology

Current advisor: Megan A. Cooper, MD, PhD

Undergraduate university: Georgetown University, 2018

Enrollment year: 2019

Research summary
Novel primary immunodeficiency results in impaired B Cell memory

I study inborn errors of immunity and am currently investigating a family with an inherited antibody deficiency associated with a tandem duplication on chromosome 14 intersecting the IGH locus. One gene in the duplication, JAG2, is upregulated more than 100-fold in B cells but not other immune cell subsets, which we hypothesize is due to enhancer hijacking of the IGH locus from the structural variant. Ongoing work includes investigating the genetic mechanism of JAG2 upregulation and the functional impact of JAG2 up regulation on B cell dysfunction.

Graduate publications
Tobin JM, Cooper MA. 2025 Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management. J Hum Immun, 1(3)::e20250034. PMCID: PMC12365696

Sohn H, Kolicheski A, Poursine-Laurent J, Tran J, Wang Y, Gan K, Tobin JM, Saucier N, Fehniger TA, Payton JE, Cooper MA. 2025 ACLY promotes NK cell effector function by regulating glycolysis and histone acetylation. J Immunol, vkaf209():epub ahead of print. PMCID: PMC12380160

Arnold DE, Kaviany S, Aluri J, Calvo KR, Mehta SS, Tobin JM, Schuettpelz L, Saucier N, Schmitz EG, Murguía-Favela L, Wright NAM, De Ravin SS, Rao VK, Holland SM, Bleesing J, Loughran TP, Feith DJ, Powell J, Ratan A, Warren JT, Pai SY, Bednarski JJ, Connelly JA, Cooper MA. 2025 Clinical Characteristics, Management, and Hematopoietic Cell Transplantation of Patients with TLR8 Gain-of-Function. Blood Adv, ():Online ahead of print. PMCID:

Tobin JM, Cooper MA. 2024 PTPN2 deficiency: Amping up JAK/STAT. J Exp Med, 221(9)::e20240980

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