Xiao P Peng

Xiao P. Peng is a Chinese-American physician-scientist and clinical geneticist specializing in inborn errors of immunity (IEIs) and genetically-driven blood and immune disorders. She is Director of the Genetics of Blood and Immunity Clinic and Director of the Advanced Diagnostics Program at the New York Center for Rare Diseases at the Children's Hospital at Montefiore, and Assistant Professor of Pediatrics and Genetics at Albert Einstein College of Medicine.

Peng is known for her contributions to understanding the genetic basis of immune disorders and for co-developing GenIA (Genetic Immunology Advisor), a comprehensive public database linking genotype-phenotype information for inborn errors of immunity.

Education Peng received her Bachelor of Science degree with honors in Chemistry from the California Institute of Technology in 2005, where she was awarded the Axline Merit Scholarship. After working as a research technician at the Broad Institute of Harvard and MIT from 2005 to 2007, she entered the Weill Cornell/Rockefeller/Sloan-Kettering Tri-Institutional MD-PhD Program.

In 2015, Peng completed her PhD in Biochemistry, Cellular and Molecular Biology at Sloan Kettering Institute under the supervision of Xiaolan Zhao, studying the Smc5/6 protein complex and its role in DNA replication and genome stability. She received her medical degree from Weill Cornell Medical College in 2017. ARPC5 deficiency, AIOLOS-associated disease, and ADA2 deficiency.

In collaboration with colleagues at the University of Freiburg and Medizinische Hochschule Hannover, Peng co-developed GenIA (Genetic Immunology Advisor), a comprehensive public database designed to assist clinicians and researchers in diagnosing and managing inborn errors of immunity. Her A-T research is supported by grants from the A-T Children's Project, the Department of Health and Human Services, and Lyda Hill Philanthropies. and the Smc5/6 complex.

Peng is a reviewer for Genetics in Medicine, Clinical Immunology, Frontiers in Immunology, Journal of Clinical Immunology, and Journal of Human Immunology.

Awards and honors

2001–2005: Caltech Axline Merit Scholarship 2011–2013: Paul & Daisy Soros Fellowship for New Americans 2017: Weill Cornell International Health Grant in Infectious Disease/Tropical and Travel Medicine 2017: Jay Lawrence Award for Clinical Proficiency in Infectious Diseases 2020: Margaret Nielsen Fellowship in Genetic Medicine, JHUSOM Institute of Genetic Medicine 2022: JHUSOM Physician Scientist Training Program Microgrant Award

Selected publications Major reviews Peng XP, Zhao XL. "The multi-functional Smc5/6 complex in genome protection and diseases." Nature Structural & Molecular Biology. 2023;30(6):724–734. Peng XP, Caballero-Oteyza A, Grimbacher B. "Common Variable Immunodeficiency: More Pathways than Roads to Rome." Annual Review of Pathology. 2023;18:283–310. Caballero-Oteyza A, Di Biase M, Peng XP. Molecular diagnostics 101: how to use genetic tests in classical hematology. Hematology Am Soc Hematol Educ Program. 2025 Dec 5;2025(1):359–369. doi: 10.1182/hematology.2025000725 Rivière JG, Saba RC, Carot-Sans G, Piera-Jiménez J, Butte MJ, Soler-Palacín P, Peng XP. Current perspectives and challenges of using AI in immunodeficiencies. J Allergy Clin Immunol. 2025. Jun 28:S0091-6749(25)00691-8. doi: 10.1016/j.jaci.2025.06.015. Peng XP, Wilson JL, Bogunovic D. "The Unique Landscape of Genetically-Driven Blood and Immune Diseases: Paradigms and Challenges." NEJM Evidence. Under review.

Original research Caballero-Oteyza A*, Crisponi L*, Peng XP*, et al. "GenIA, the Genetic Immunology Advisor database for Inborn Errors of Immunity." Journal of Allergy and Clinical Immunology. 2023. (*equal contribution) Peng XP, Lim S, Li S, et al. "Acute Smc5/6 depletion reveals its primary role in rDNA replication by restraining recombination at fork pausing sites." PLoS Genetics. 2018;14(1):e1007129. Peng XP, Al-Ddafari MS, Caballero-Oteyza A, El Mezouar C, Mrovecova P, Dib SE, Massen Z, Smahi MC, Faiza A, Hassaïne RT, Lefranc G, Aribi M, Grimbacher B. Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs). Clin Immunol. 2023 Sep 9;256:109758. doi: 10.1016/j.clim.2023.109758. Magnarelli A, Liu Q, Wang F, Peng X, Wright J, Natale V, Rothblum-Oviatt C, Lefton-Greif MA, Mcgrath-morrow S, Crawford TO, Ehrhardt MJ, Lederman HL, Sharma R. Prevalence and outcomes of cancer and treatment-associated toxicities for patients with Ataxia Telangiectasia. J Allergy Clin Immun. 2024 Nov 8:S0091-6749(24)01167-9. doi: 10.1016/j.jaci.2024.10.023. Weinstock NI, Applegate C, Peng L, Keates-Baleeiro J, Gamper C, Peng XP. NHEJ1 Splice Variants Associated with Bone Marrow Failure and Hematologic Malignancy. Pediatr Blood Cancer. 2025 Jun 28:e31884. doi: 10.1002/pbc.31884.

Book chapters Peng XP, Schnappauf O, de Jesus AA, Aksentijevich I. "Chapter 70: Autoinflammatory Disorders." Manual of Molecular and Clinical Laboratory Immunology, 9th Edition. ASM/Wiley, 2024.