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Staff Clinician

Inflammatory Disease Section


M.D. Saint Louis University


Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of the Medical Genetics Branch at the National Human Genome Research Institute. She received her medical degree from Saint Louis University in Missouri in 2003; completed internal medicine and pediatrics residency and a sub specialization in both adult and pediatric rheumatology from Cardinal Glennon Children’s Medical Center and Saint Louis University.  In 2010, she moved to Bethesda, Maryland in pursuit of research experience.  Having aligned herself with Dr. Dan Kastner at the National Institutes of Health, she has focused her research in the field of autoinflammation.  As an associate research physician, she leads the Inflammatory Disease Section’s clinical team overseeing the care of greater than 2000 patients with novel and established autoinflammatory diseases. 

Scientific Summary

Dr. Ombrello has played a significant role in the discovery and characterization of six new autoinflammatory diseases as well as doggedly pursuing effective therapeutic options for such patients. She spear-headed the organization of a multi-specialty juggernaut that is fighting to decipher the complex and potentially devastating disease, deficiency of adenosine deaminase 2.  She has also worked in conjuncture with the CD22 CAR-T cell team characterizing the HLH-like manifestations that can present as a separate entity to the established cytokine release syndrome. Dr. Ombrello has become increasingly recognized as a leader in the field of autoinflammation and has presented her work at National and International Meetings.


Barron KS, Aksentijevich I, Deuitch NT, Stone DL, Hoffmann P, Videgar-Laird R, Soldatos A, Bergerson J, Toro C, Cudrici C, Nehrebecky M, Romeo T, Jones A, Boehm M, Kanakry JA, Dimitrova D, Calvo KR, Alao H, Kapuria D, Ben-Yakov G, Pichard DC, Hathaway L, Brofferio A, McRae E, Moura NS, Schnappauf O, Rosenzweig S, Heller T, Cowen EW, Kastner DL, Ombrello AK. The spectrum of the deficiency of adenosine deaminase 2: An observational analysis of a 60 patient cohort. Front Immunol. 2022 Jan 10;12:811473.

Lichtenstein DA, Schischlik F, Shao L, Steinberg SM, Yates B, Wang HW, Wang Y, Inglefield J, Dulau-Florea A, Ceppi F, Hermida LC, Stringaris K, Dunham K, Homan P, Jailwala P, Mirazee J, Robinson W, Chisholm KM, Yuan C, Stetler-Stevenson M, Ombrello AK, et al. (2021). Characterization of HLH-like manifestations as a CRS variant in patients receiving CD22 CAR T cellsBlood. 2021; 138(24), 2469–2484.

Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020 Dec 31;383(27):2628-2638.

Schwartz DM, Blackstone SA, Sampaio-Moura N, Rosenzweig S, Burma AM, Stone D, Hoffmann P, Jones A, Romeo T, Barron KS, Waldman MA, Aksentijevich I, Kastner DL, Milner JD, Ombrello AK. Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20. Ann Rheum Dis. 2019; Nov 25.

Ombrello AK, Qin J, Hoffmann PM, Kumar P, Stone D, Jones A, et al. Treatment strategies for the deficiency of adenosine deaminase 2. N Engl J Med. 2019 Apr 18;380(16):1582-1584.

Zhou Q, Aksentijevich I, Wood GM, Walts AD, Hoffmann P, Remmers EF, Kastner DL, Ombrello AK. Cryopyrin-associated periodic syndrome caused by a myeloid-restricted somatic NLRP3 mutation. Arthritis Rheumatol. 2015;67(9):2482-6.

Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, et al.  Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;307:907-916.

Last updated: November 8, 2023