Deborah L. Stone, M.D.
Inflammatory Disease Section
M.D. University of Florida
Biography
Dr. Stone attended medical school at the University of Florida College of Medicine. She completed her pediatrics residency at the Children’s Hospital of Pittsburgh and fellowship in Clinical Genetics from the National Institutes of Health where she then continued as a Senior Staff Fellow for 2 years. In 2007, she joined Dr. Daniel Kastner’s group that studies autoinflammatory diseases resulting from defects in the innate immune system.
Scientific Summary
Dr. Stone’s research focuses on autoinflammatory diseases: their natural history, diagnosis, treatment, and genetic causes. She was involved in the discovery of the genetic etiology of DADA2 (deficiency of ADA2), DIRA (deficiency of the interleukin receptor antagonist), CRIA (cleavage-induced RIPK1-induced autoinflammatory syndrome), among others. She is presently working on more effective treatments for PAPA syndrome (pyogenic arthritis, pyoderma gangrenosum, and acne), a condition difficult to treat in some severely affected individuals. She collaborates on studies involving patients with HA20 (haploinsufficiency of A20), a disease that may be associated with inflammatory liver disease and is investigating medications that will prevent liver failure in these patients.
Publications
Stone DL, Ombrello A, Arostegui JI, Schneider C, Dang V, de Jesus A, et al. Excess serum interleukin-18 distinguishes patients with pathogenic mutations in PSTPIP1. Arthritis Rheumatol. 2022 Feb;74(2):353-357.
Stone DL, Beck DB, Manthiram K, Park YH, Chae JJ, Remmers E, et al. The systemic autoinflammatory diseases: Coming of age with the human genome. J Allergy Clin Immunol. 2020 Nov;146(5):997-1001.
Lalaoui N, Boyden SE, Oda H, Wood GM, Stone DL, Chau D, et al. Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. Nature. 2020 Jan;577(7788):103-108.
Ombrello AK, Qin J, Hoffmann PM, Kumar P, Stone D, Jones A, et al. Treatment strategies for deficiency of adenosine deaminase 2. N Engl J Med. 2019 Apr 18;380(16):1582-1584.
Stone DL, Kastner DL (2019). Pyogenic arthritis, Pyoderma gangrenosum and Acne (PAPA) Syndrome. In: MacKay I, Rose N (eds) Encyclopedia of Medical Immunology. Springer, New York, NY.
Giannelou A, Wang H, Zhou Q, Park YH, Abu-Asab MS, Ylaya K, Stone DL, Sediva A, et al. Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. Ann Rheum Dis 2018 Apr; 77(4):612-619.
Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, et al. Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Proc Natl Acad Sci U S A. 2016 Sep 6;113(36):10127-32.
Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, Yang D, Demirkaya E, Takeuchi M, Tsai WL, Lyons JJ, Yu X, Ouyang C, Chen C, Chin DT, Zaal K, Chandrasekharappa SC, Hanson EP, Yu Z, Mullikin JC, Hasni SA, Wertz IE, Ombrello AK, Stone DL, Hoffmann P, et al. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet 2016 Jan; 48(1): 67-73.
Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, et al. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest. 2015 Nov 2;125(11):4196-211.
Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Sanchez GAM, Tenbrock K, Wittkowski H, Jones OY, Kuehn HS, Lee CR, DiMattia MA, Cowen EW, Gonzalez B, Palmer I, DiGiovanna JJ, Biancotto A, Kim H, Tsai WL, Trier AM, Huang Y, Stone DL, Hill S, et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med 2014 Aug 7; 371(6):507-18. PMID 25029335
Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, et al. Early Onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 2014 Mar 6:370 (10):911-20.
Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgård U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, Turner ML, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med Jun 2009;360(23):2426-2437.
Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxenis AD, Barr M, et al. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet. 2000 May; 25(1): 79-82.
Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat. 2000: 15(2):181-8.
Stone D, Sidransky E. Hydrops fetalis: Lysosomal storage disorders in extremis. Adv Pediatr, Vol. 46, 1999, 409-40.
Last updated: November 6, 2023