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Kim E. Nichols, MD
Kim E. Nichols, MD

Kim E. Nichols, MD

Member, St. Jude Faculty

  • Director, Cancer Predisposition Division




BA – Dartmouth College
MD – Duke University School of Medicine

Honors & Awards

  • 2014 Alex’s Lemonade Stand Foundation Infrastructure Award, Center for Childhood Cancer Research, The Children’s Hospital of Philadelphia
  • 2013 William B Lawrence & Blanche Hughes Award
  • 2013 Nezelof Prize for Basic Research, The Histiocyte Society
  • 2013 Alex’s Lemonade Stand Foundation Innovation Award, Center for Childhood Cancer Research, The Children’s Hospital of Philadelphia
  • 2012 Alex’s Lemonade Stand Foundation Innovation Award, Center for Childhood Cancer Research, The Children’s Hospital of Philadelphia
  • 2011 Member, Society for Pediatric Research
  • 2011 Center for Integration of Genetic Healthcare Technologies Award, University of Pennsylvania Perelman School of Medicine, Philadelphia
  • 2010 Foerderer Award, The Children’s Hospital of Philadelphia
  • 2008 XLP Research Trust Award, London, England
  • 2002 American Society of Hematology Junior Faculty Scholar Award

Research Interests

I am a pediatric oncologist with research interests in the molecular mechanisms that provide protection against viral infections and cancer. My overarching goals are to understand how defects in these mechanisms contribute to disease and use this information to develop more effective treatments for children with increased genetic risk for infection and/or malignancy.

Towards this end, my research focuses on:

  • Identifying novel genetic causes of childhood cancer
  • Optimizing methods of tumor surveillance for children with increased cancer risk
  • Evaluating the factors that influence parent and adolescent decision making and communication around genetic testing for heritable cancer risk
  • Understanding the behavioral and psychological impacts of cancer genetic testing on children and their families
  • Increasing understanding and developing new therapies for malignant and non-malignant hematologic disorders, including B-cell leukemias and lymphomas, hemophagocytic lymphohistiocytosis and Epstein-Barr virus-associated lymphoproliferations

Selected Publications

Edmonson MN, Patel AN, Hedges DJ, Wang Z, Rampersaud E, Kesserwan CA, Zhou X, Liu Y, Newman S, Rusch MC, McLeod CL, Wilkinson MR, Rice SV, Soussi T, Taylor JP, Benatar M, Becksfort JB, Nichols KE, Robison LL, Downing JR, Zhang J. Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants. Genome Res. 2019 Sep;29(9):1555-1565. doi: 10.1101/gr.250357.119. Epub 2019 Aug 22.

Wang Z, Wilson CL, Armstrong GT, Hudson MM, Zhang J, Nichols KE, Robison LL. Association of Germline BRCA2 Mutations With the Risk of Pediatric or Adolescent Non-Hodgkin Lymphoma. JAMA Oncol. 2019 Jul 25. doi: 10.1001/jamaoncol.2019.2203. [Epub ahead of print] No abstract available.

Jordan MB, Allen CE, Greenberg J, Henry M, Hermiston ML, Kumar A, Hines M, Eckstein O, Ladisch S, Nichols KE, Rodriguez-Galindo C, Wistinghausen B, McClain KL. Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: Recommendations from the North American Consortium for Histiocytosis (NACHO). Pediatr Blood Cancer. 2019 Nov;66(11):e27929. doi: 10.1002/pbc.27929. Epub 2019 Jul 24. Review.

Hamilton KV, Maese L, Marron JM, Pulsipher MA, Porter CC, Nichols KE. Stopping Leukemia in Its Tracks: Should Preemptive Hematopoietic Stem-Cell Transplantation be Offered to Patients at Increased Genetic Risk for Acute Myeloid Leukemia? J Clin Oncol. 2019 Aug 20;37(24):2098-2104. doi: 10.1200/JCO.19.00181. Epub 2019 Jun 6. No abstract available.

Albeituni S, Verbist KC, Tedrick PE, Tillman H, Picarsic J, Bassett R, Nichols KE. Mechanisms of action of ruxolitinib in murine models of hemophagocytic lymphohistiocytosis. Blood. 2019 Jul 11;134(2):147-159. doi: 10.1182/blood.2019000761. Epub 2019 Apr 23.

La Rosée P, Horne A, Hines M, von Bahr Greenwood T, Machowicz R, Berliner N, Birndt S, Gil-Herrera J, Girschikofsky M, Jordan MB, Kumar A, van Laar JAM, Lachmann G, Nichols KE, Ramanan AV, Wang Y, Wang Z, Janka G, Henter JI. Recommendations for the management of hemophagocytic lymphohistiocytosis in adults. Blood. 2019 Jun 6;133(23):2465-2477. doi: 10.1182/blood.2018894618. Epub 2019 Apr 16. Review.

Johnson LM, Sykes AD, Lu Z, Valdez JM, Gattuso J, Gerhardt E, Hamilton KV, Harrison LW, Hines-Dowell SJ, Jurbergs N, McGee RB, Nuccio R, Ouma AA, Pritchard M, Quinn EA, Baker JN, Mandrell BN, Nichols KE. Speaking genomics to parents offered germline testing for cancer predisposition: Use of a 2-visit consent model. Cancer. 2019 Jul 15;125(14):2455-2464. doi: 10.1002/cncr.32071. Epub 2019 Mar 22.

Quinn EA, Maciaszek JL, Pinto EM, Phillips AH, Berdy D, Khandwala M, Upadhyaya SA, Zambetti GP, Kriwacki RW, Ellison DW, Nichols KE, Kesserwan C. From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion. Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). pii: a003921. doi: 10.1101/mcs.a003921. Print 2019 Aug.

Das R, Guan P, Wiener SJ, Patel NP, Gohl TG, Evans E, Zauderer M, Nichols KE. Enhancing the antitumor functions of invariant natural killer T cells using a soluble CD1d-CD19 fusion protein. Blood Adv. 2019 Mar 12;3(5):813-824. doi: 10.1182/bloodadvances.2018028886.

Newman S, Fan L, Pribnow A, Silkov A, Rice SV, Lee S, Shao Y, Shaner B, Mulder H, Nakitandwe J, Shurtleff S, Azzato EM, Wu G, Zhou X, Barnhill R, Easton J, Nichols KE, Ellison DW, Downing JR, Pappo A, Potter PM, Zhang J, Bahrami A. Clinical genome sequencing uncovers potentially targetable truncations and fusions of MAP3K8 in spitzoid and other melanomas. Nat Med. 2019 Apr;25(4):597-602. doi: 10.1038/s41591-019-0373-y. Epub 2019 Mar 4.

Weaver LK, Minichino D, Biswas C, Chu N, Lee JJ, Bittinger K, Albeituni S, Nichols KE, Behrens EM. Microbiota-dependent signals are required to sustain TLR-mediated immune responses. JCI Insight. 2019 Jan 10;4(1). pii: 124370. doi: 10.1172/jci.insight.124370. [Epub ahead of print]

Pui CH, Nichols KE, Yang JJ. Somatic and germline genomics in paediatric acute lymphoblastic leukaemia. Nat Rev Clin Oncol. 2019 Apr;16(4):227-240. doi: 10.1038/s41571-018-0136-6.

Chellapandian D, Hines MR, Zhang R, Jeng M, van den Bos C, Santa-María López V, Lehmberg K, Sieni E, Wang Y, Nakano T, Williams JA, Fustino NJ, Astigarraga I, Dunkel IJ, Abla O, van Halteren AGS, Pei D, Cheng C, Weitzman S, Sung L, Nichols KE. A multicenter study of patients with multisystem Langerhans cell histiocytosis who develop secondary hemophagocytic lymphohistiocytosis. Cancer. 2019 Mar 15;125(6):963-971. doi: 10.1002/cncr.31893. Epub 2018 Dec 6.

Wang Z, Liu Q, Wilson CL, Easton J, Mulder H, Chang TC, Rusch MC, Edmonson MN, Rice SV, Ehrhardt MJ, Howell RM, Kesserwan CA, Wu G, Nichols KE, Downing JR, Hudson MM, Zhang J, Yasui Y, Robison LL. Polygenic Determinants for Subsequent Breast Cancer Risk in Survivors of Childhood Cancer: The St Jude Lifetime Cohort Study (SJLIFE). Clin Cancer Res. 2018 Dec 15;24(24):6230-6235. doi: 10.1158/1078-0432.CCR-18-1775. Epub 2018 Oct 26.

Ehl S, Astigarraga I, von Bahr Greenwood T, Hines M, Horne A, Ishii E, Janka G, Jordan MB, La Rosée P, Lehmberg K, Machowicz R, Nichols KE, Sieni E, Wang Z, Henter JI. Recommendations for the Use of Etoposide-Based Therapy and Bone Marrow Transplantation for the Treatment of HLH: Consensus Statements by the HLH Steering Committee of the Histiocyte Society. J Allergy Clin Immunol Pract. 2018 Sep - Oct;6(5):1508-1517. doi: 10.1016/j.jaip.2018.05.031. Epub 2018 Jul 4. Review.

Valdez JM, Walker B, Ogg S, Gattuso J, Alderfer MA, Zelley K, Ford CA, Baker JN, Mandrell BN, Nichols KE. Parent-child communication surrounding genetic testing for Li-Fraumeni syndrome: Living under the cloud of cancer. Pediatr Blood Cancer. 2018 Nov;65(11):e27350. doi: 10.1002/pbc.27350. Epub 2018 Jul 15.

Wang Z, Wilson CL, Easton J, Thrasher A, Mulder H, Liu Q, Hedges DJ, Wang S, Rusch MC, Edmonson MN, Levy S, Lanctot JQ, Caron E, Shelton K, Currie K, Lear M, Patel A, Rosencrance C, Shao Y, Vadodaria B, Yergeau D, Sapkota Y, Brooke RJ, Moon W, Rampersaud E, Ma X, Chang TC, Rice SV, Pepper C, Zhou X, Chen X, Chen W, Jones A, Boone B, Ehrhardt MJ, Krasin MJ, Howell RM, Phillips NS, Lewis C, Srivastava D, Pui CH, Kesserwan CA, Wu G, Nichols KE, Downing JR, Hudson MM, Yasui Y, Robison LL, Zhang J. Genetic Risk for Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer. J Clin Oncol. 2018 Jul 10;36(20):2078-2087. doi: 10.1200/JCO.2018.77.8589. Epub 2018 May 30.

Schultz CL, Alderfer MA, Lindell RB, McClain Z, Zelley K, Nichols KE, Ford CA. The Influence of Adolescence on Parents' Perspectives of Testing and Discussing Inherited Cancer Predisposition. J Genet Couns June 6, 2018. PMID: 29909594 (Epub ahead of print)

Churchman ML, Qian M, Kronnie G, Zhang R, Yang W, Zhang H, Lana T, Tedrick P, Baskin R, Verbist K, Peters J, Devidas M, Raetz E, Larsen E, Martin PL, Bowman WP, Winick N, Mardis E, Fulton R, Stanulla M, Evans WE, Relling MV, Pui CH, Hunger SP, Loh ML, Handgretinger R, Nichols KE, Yang JJ, Mullighan CG. Germline IKZF1 variation and predisposition to acute lymphoblastic leukemia. Cancer Cell 33(5):937-948.e8, 2018. PMCID: PMC5953820

Peled M, Tocheva AS, Sandigursky S, Nayak S, Philips EA, Nichols KE, Strazza M, Azoulay-Alfaguter I, Askenazi M, Neel BG, Pelzek AJ, Ueberheide B, Mor A. Affinity purification mass spectrometry analysis of PD-1 uncovers SAP as a new checkpoint inhibitor. Proc Natl Acad Sci U S A 115(3):E468-E477, 2018. PMCID: PMC5776966

Wei X, Calvo-Vidal MN, Chen S, Wu G, Revuelta MV, Sun J, Zhang J, Walsh MF, Nichols KE, Joseph V, Snyder C, Vachon CM, McKay JD, Wang SP, Jayabalan DS, Jacobs LM, Becirovic D, Waller RG, Artomov M, Viale A, Patel J, Phillip JM, Chen-Kiang S, Curtin K, Salama M, Atanackovic D, Niesvizky R, Landgren O, Slager SL, Godley LA, Churpek J, Garber JE, Anderson KC, Daly MJ, Roeder RG, Dumontet C, Lynch HT, Mullighan CG, Camp NJ, Offit K, Klein RJ, Yu H, Cerchietti L, Lipkin SM. Germline mutations in lysine specific demethylase 1 (LSD1/KDM1A) confer susceptibility to multiple myeloma. Cancer Res 78(10):2747-2759, 2018. PMCID: PMC5955848

Qian M, Cao X, Devidas M, Yang W, Cheng C, Dai Y, Carroll A, Heerema NA, Zhang H, Moriyama T, Gastier-Foster JM, Xu H, Raetz E, Larsen E, Winick N, Bowman WP, Martin PL, Mardis ER, Fulton R, Zambetti G, Borowitz M, Wood B, Nichols KE, Carroll WL, Pui CH, Mullighan CG, Evans WE, Hunger SP, Relling MV, Loh ML, Yang JJ. TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children. J Clin Oncol 36(6):591-599, 2018. PMCID: PMC5815403

Schwartz JR, Ma J, Lamprecht T, Walsh M, Wang S, Bryant V, Song G, Wu G, Easton J, Kesserwan CA, Nichols KE, Mullighan CG, Ribeiro RC, Klco JM. The genomic landscape of Pediatric Myelodysplastic Syndrome. Nat Commun 8(1):1557, 2017. PMCID: PMC5691144

Johnson LM, Hamilton KV, Valdez JM, Knapp E, Baker JN, Nichols KE. Ethical considerations surrounding germline next-generation sequencing of children with cancer. Expert Rev Mol Diagn 17(5):523-534, 2017. Review. PMID: 28399664

Minoia F, Bovis F, Davì S, Insalaco A, Lehmberg K, Shenoi S, Weitzman S, Espada G, Gao YJ, Anton J, Kitoh T, Kasapcopur O, Sanner H, Merino R, Astigarraga I, Alessio M, Jeng M, Chasnyk V, Nichols KE, Huasong Z20 Li C, Micalizzi C, Ruperto N, Martini A, Cron RQ, Ravelli A, Horne A; Pediatric Rheumatology International Trials Organization; Childhood Arthritis and Rheumatology Research Alliance; Pediatric Rheumatology Collaborative Study Group; Histiocyte Society. Development and initial validation of the MH score, a diagnostic tool that differentiates primary hemophagocytic lymphohistiocytosis from macrophage activation syndrome. J Pediatr 189:72-78.e3, 2017.  PMID: 28807357 

Messick TG, Nichols KE. Infectious Mononucleosis and Other Epstein-Barr Virus–Related Disorders. Messick TG, Nichols KE. In Wintrobe’s Clinical Hematology, 14th edition, Greer JP, Appelbaum F, Arber DA, Dispenzieri  A, Fehniger T, Glader B, List AF, Means RT, Jr., Rodgers GM, eds, 2017.

Lemberg K, Ochi F, Nichols KE, Ishii E. Hemophagocytic lymphohistiocytosis associated with malignancies and Epstein-Barr virus infection. In Histiocytic neoplasms and related disorders. Abla O, Janka G, eds, Springer Publishing, 2017.

Kalish JM, Doros L, Helman LJ, Hennekam RC, Kuiper RP, Maas SM, Maher ER, Nichols KE, Plon SE, Porter CC, Rednam S, Schultz KAP, States LJ, Tomlinson GE, Zelley K, Druley TE. Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. Clin Cancer Res Jul 1;23(13):e115-e122, 2017. doi: 10.1158/1078-0432.CCR-17-0710. Review. PMID: 28674120

Quinn E, Nichols KE. Cancer predisposition syndromes associated with myeloid malignancy. Semin Hematol Apr;54(2):115-122, 2017. doi: 10.1053/j.seminhematol.2017.04.003. Epub 2017 Apr 7. Review. PMID: 28637615

Porter CC, Druley TE, Erez A, Kuiper RP, Onel K, Schiffman JD, Wolfe Schneider K, Scollon SR, Scott HS, Strong LC, Walsh MF, Nichols KE. Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions. Clin Cancer Res Jun 1;23(11):e14-e22, 2017. doi: 10.1158/1078-0432.CCR-17-0428. Review. PMID: 28572263

Brodeur GM, Nichols KE, Plon SE, Schiffman JD, Malkin D. Pediatric Cancer Predisposition and Surveillance: An Overview, and a Tribute to Alfred G. Knudson Jr. Clin Cancer Res Jun 1;23(11):e1-e5, 2017. doi: 10.1158/1078-0432.CCR-17-0702. Review. PMID: 28572261

Hines MR, Nichols KE. Go with the flow: perforin and CD107a in HLH. Blood Jun 1;129(22):2954-2955, 2017. doi: 10.1182/blood-2017-04-773192. PMID: 28572174

Schwartz JR, Wang S, Ma J, Lamprecht T, Walsh M, Song G, Raimondi SC, Wu G, Walsh MF, McGee RB, Kesserwan CA, Nichols KE, Cauff BE, Ribiero RC, Wlodarski M, Klco JM. Germline SAMD9 mutation in siblings with Monosomy 7 and Myelodysplastic Syndrome. Leukemia  31(8):1827-1830, 2017. PMCID: PMC5540771.

Santiago T, Clay MR, Azzato E, Newman S, Fernandez-Pineda I, Nichols KE, Zhang J, Downing JR, Davidoff A, Brennan RC, Ellison DW. Clear cell sarcoma of kidney involving a horseshoe kidney and harboring EGFR internal tandem duplication. Pediatr Blood Cancer 2017 Apr 25, 2017. doi: 10.1002/pbc.26602. [Epub ahead of print] PMID: 28440018

Johnson LM, Hamilton KV, Valdez JM, Knapp E, Baker JN, Nichols KE. Ethical considerations surrounding germline next-generation sequencing of children with cancer. Expert Rev Mol Diagn May;17(5):523-534, 2017. doi: 10.1080/14737159.2017.1316665. Review. PMID: 28399664

Alderfer MA, Lindell RB, Viadro CI, Zelley K, Valdez J, Mandrell B, Ford CA, Nichols KE. Should Genetic Testing be Offered for Children? The Perspectives of Adolescents and Emerging Adults in Families with Li-Fraumeni Syndrome. J Genet Couns Mar 16, 2017.  doi: 10.1007/s10897-017-0091-x. [Epub ahead of print] PMID 28303452

Leroy B, Ballinger ML, Baran-Marszak F, Bond GL, Braithwaite A, Concin N, Donehower LA, El-Deiry WS, Fenaux P, Gaidano G, Langerød A, Hellstrom-Lindberg E, Iggo R, Lehmann-Che J, Mai PL, Malkin D, Moll UM, Myers JN, Nichols KE, Pospisilova S, Ashton-Prolla P, Rossi D, Savage SA, Strong LC, Tonin PN, Zeillinger R, Zenz T, Fraumeni JF Jr, Taschner PE, Hainaut P, Soussi T. Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice. Cancer Res Mar 15;77(6):1250-1260, 2017. doi: 10.1158/0008-5472.CAN-16-2179. Review. PMID: 28254861

Johnson LM, Valdez JM, Quinn EA, Sykes AD, McGee RB, Nuccio R, Hines-Dowell SJ, Baker JN, Kesserwan C, Nichols KE, Mandrell BN. Integrating next-generation sequencing into pediatric oncology practice: An assessment of physician confidence and understanding of clinical genomics. Cancer Feb 13, 2017.doi: 10.1002/cncr.30581. [Epub ahead of print] PMID: 28192596

Valdez JM, Nichols KE, Kesserwan C. Li-Fraumeni syndrome: a paradigm for the understanding of hereditary cancer predisposition. Br J Haematol Dec 16, 2016. doi: 10.1111/bjh.14461. [Epub ahead of print]

Shabani M, Nichols KE, Rezaei N. Primary immunodeficiencies associated with EBV-Induced lymphoproliferative disorders. Crit Rev Oncol Hematol Dec;108:109-127, 2016.

McGee RB, Nichols KE. Introduction to cancer genetic susceptibility syndromes. Hematology Am Soc Hematol Educ Program Dec 2;2016(1):293-301, 2016.

Marsh RA, Jordan MB, Talano JA, Nichols KE, Kumar A, Naqvi A, Vaiselbuh SR; Histiocyte Society Salvage Therapy Working Group. Salvage therapy for refractory hemophagocytic lymphohistiocytosis: A review of the published experience. Pediatr Blood Cancer Oct 27, 2016. doi: 10.1002/pbc.26308. [Epub ahead of print]

Samuel N, Wilson G, Lemire M, Id Said B, Lou Y, Li W, Merino D, Novokmet A, Tran J, Nichols KE, Finlay JL, Choufani S, Remke M, Ramaswamy V, Cavalli FM, Elser C, Meister L, Taylor MD, Tabori U, Irwin M, Weksberg R, Wasserman JD, Paterson AD, Hansford JR, Achatz MI, Hudson TJ, Malkin D. Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility. J Clin Oncol Aug 2, 2016. pii: JCO676940. [Epub ahead of print]

Kesserwan C, Friedman Ross L, Bradbury AR, Nichols KE. The Advantages and Challenges of Testing Children for Heritable Predisposition to Cancer. Am Soc Clin Oncol Educ Book 35:251-69, 2016. doi: 10.14694/EDBK_160621.

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Hyung-Joon Kwon H-J, Choi G-E, Ryu S, Kwon SJ, Kim SC, Booth C, Nichols KE, Kim HS. Stepwise phosphorylation of p65 promotes NF-κB activation and NK cell responses during target cell recognition. Nature Communications 7:11686, 2016. doi:10.1038/ncomms11686

Guan P, Bassiri H, Patel NP, Nichols KE, Das R. Invariant natural killer T cells in hematopoietic stem cell transplantation: killer choice for natural suppression. Bone Marrow TransplantMay;51(5):629-37, 2016. doi: 10.1038/bmt.2015.335. Epub 2016 Feb 15.

Alexander TB, McGee RB, Kaye EC, McCarville MB, Choi JK, Cavender CP, Nichols KE, Sandlund JT. Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome. Pediatr Blood Cancer Aug;63(8):1454-6, 2016

Urtishak KA, Robinson BW, Rappaport EF, Sarezky MD, Biegel JA, Nichols KE, Stern JW, Felix CA.Unique Familial MLL-Rearranged Precursor B Cell Infant Acute Lymphoblastic Leukemia (ALL) in Non-twin Siblings. Pediatr Blood Cancer Jul;63(7):1175-80, 2016.

Ravelli A, Minoia F, Davì S, Horne A, Bovis F, Pistorio A, Aricò M, Avcin T, Behrens EM, De Benedetti F, Filipovic L, Grom AA, Henter JI, Ilowite NT, Jordan MB, Khubchandani R, Kitoh T, Lehmberg K, Lovell DJ, Miettunen P, Nichols KE, Ozen S, Pachlopnik Schmid J, Ramanan AV, Russo R, Schneider R, Sterba G, Uziel Y, Wallace C, Wouters C, Wulffraat N, Demirkaya E, Brunner HI, Martini A, Ruperto N, Cron RQ; Paediatric Rheumatology International Trials Organisation, the Childhood Arthritis and Rheumatology Research Alliance, the Pediatric Rheumatology Collaborative Study Group, and the Histiocyte Society. 2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A European League Against Rheumatism/American College of Rheumatology/Paediatric Rheumatology International Trials Organisation Collaborative Initiative. Ann Rheum Dis  Mar;75(3):481-9, 2016. doi: 10.1136/annrheumdis-2015-208982. PMID: 26865703

Das R, Guan P, Sprague L, Verbist K, Tedrick P, Qi A, Cheng C, Kurachi M, Levine RL, Wherry J, Canna S, Behrens EM, Nichols K. Janus kinase inhibition lessens inflammation and ameliorates disease in murine models of hemophagocytic lymphohistiocytosis. Blood Mar 31;127(13):1666-75, 2016. doi: 10.1182/blood-2015-12-684399. Epub 2016 Jan 29.

Ravelli A, Minoia F, Davì S, Horne A, Bovis F, Pistorio A, Aricò M, Avcin T, Behrens EM, De Benedetti F, Filipovic A, Grom AA, Henter JI, Ilowite NT, Jordan MB, Khubchandani R, Kitoh T, Lehmberg K, Lovell DJ, Miettunen P, Nichols KE, Ozen S, Pachlopnik Schmid J, Ramanan AV, Russo R, Schneider R, Sterba G, Uziel Y, Wallace C, Wouters C, Wulffraat N, Demirkaya E, Brunner HI, Martini A, Ruperto N, Cron RQ. Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis. RMD OpenJan 19;2(1):e000161, 2016. doi: 10.1136/rmdopen-2015-000161. eCollection 2016.

Ruffo E, Malacarne V, Larsen SE, Das R, Patrussi L, Wülfing C, Biskup C, Kapnick SM, Verbist K, Tedrick P, Schwartzberg PL, Baldari CT, Rubio I, Nichols KE, Snow AL, Baldanzi G, Graziani A. Inhibition of diacylglycerol kinase α restores restimulation-induced cell death and reduces immunopathology in XLP-1. Sci Transl Med Jan 13;8(321):321ra7, 2016. doi: 10.1126/scitranslmed.aad1565

Guan P, Bassiri H, Patel NP, Nichols KE, Das R. Invariant natural killer T cells in hematopoietic stem cell transplantation: killer choice for natural suppression. Bone Marrow Transplantation 2016 Feb 15. doi: 10.1038/bmt.2015.335. [Epub ahead of print] Review. PMID: 26878658

Zhang J*, Walsh MF*, Wu G*, Edmonson MN, Gruber TA, Easton J, Hedges D, Ma X, Zhou X, Yergeau DA, Wilkinson MR, Vadodaria B, Chen X, McGee RB, Hines-Dowell S, Nuccio R, Quinn E, Shurtleff SA, Rusch M, Patel A, Becksfort JB, Wang S, Weaver MS, Ding L, Mardis ER, Wilson RK, Gajjar A, Ellison DW, Pappo AS, Pui CH, Nichols KE*, Downing JR. Germline Mutations in Predisposition Genes in Pediatric Cancer. N Engl J Med Nov 18, 2015. Epub ahead of print. doi:10.1056/NEJMoa1508054. *Equal contribution

Moriyama T, Metzger ML, Wu G, Nishii R, Qian M, DevidasM, Yang W, Cheng C, Cao X, Quinn E, Raimondi S, Gastier-Foster J, Raetz E, Larsen E, Martin PL, Bowman WP, Winick N, Komada Y, Wang S, Edmonson M, Xu H,  Mardis E, Fulton R, Pui C-H, Mullighan C, Evans WE, Zhang J, Hunger SP, Relling MV, Nichols KE, Loh ML, Yang JJ. Germline Genetic Variation in ETV6 and Risk of Childhood Acute Lymphoblastic Leukemia: a Systematic Genetic Study. Lancet Oncol Oct. 27 2015. Epub ahead of print. doi:10.1016/S1470-2045(15)00369-1.

Broniscer A, Nichols KE. Predisposition to central nervous system cancers. In: Brain Tumors in Children. Gajjar A, Reaman GH, Racadio JM, Smith F, eds. New York, NY: Springer Press; 2015 (in press).

Ravelli A, Minoia F, Davì S, Horne A, Bovis F, Pistorio A, Aricò M, Avcin T, Behrens EM, De Benedetti F, Filipovich L, Grom AA, Henter JI, Ilowite NT, Jordan MB, Khubchandani R, Kitoh T, Lehmberg K, Lovell DJ, Miettunen P, Nichols KE, Ozen S, Pachlopnick-Schmid J, Ramanan AV, Russo R, Schneider R, Sterba G, Uziel Y, Wallace C, Wouters C, Wulffraat N, Demirkaya E, Brunner HI, Martini A, Ruperto N, Cron RQ, on behalf of the Pediatric Rheumatology International Trials Organization, the Childhood Arthritis & Rheumatology Research Alliance, the Pediatric Rheumatology Collaborative Study Group and the Histiocyte Society. Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis. RMD Open 1:e000161, 2015. doi:10.1136/ rmdopen-2015-000161

Lehmberg K, Sprekels B, Nichols KE, Woessmann W, Müller I, Suttorp M, Bernig T, Beutel K, Bode SFN, Kentouche K, Kolb R, Längler A, Minkov M, Schilling FH, Schmid I, Vieth S, Ehl S, zur Stadt U, Janka GE. Malignancy-associated Haemophagocytic Lymphohistiocytosis in Children and Adolescents. Haematologica 100(8):997-1004, 2015. doi: 10.3324/haematol.2015.123562.

Lehmberg K, Sprekels B, Nichols KE, Woessmann W, Müller I, Suttorp M, Beutel K, Bode S, Bielack S, Kentouche K, Kolb R, Körholz D, Längler A, Minkov M, Schmid I, Vieth S, Ehl S, zur Stadt U, Janka G. Hemophagotycic Lymphohistiocytosis in the context of malignancy in children and adults. Br J Haematology 170(4):539-49, 2015. doi: 10.1111/bjh.13462.

Anupindi SA, Bedoya MA, Lindell RB, Rambhatla SJ, Zelley K, Nichols KE, Chauvin NA. Diagnostic performance of whole body MRI as a tool for cancer screening in children with genetic cancer predisposing conditions. Am J Roentgenol 205(2):400-8, 2015. doi: 10.2214/AJR.14.13663

Quinn E, McGee R, Nuccio R, Pappo AS, Nichols KE. Genetic Predisposition to Neonatal Tumors. Curr Pediatr Rev 11(3):164-78, 2015.

Nichols KE, Malkin D. Genotype versus phenotype: the yin and yang of germline TP53 mutations in Li-Fraumeni Syndrome. J Clin Oncol 33(21):2331-3, 2015. doi: 10.1200/JCO.2015.61.5757.

Topka S, Vijai J, Walsh MF, Jacobs L, Maria A Villano D, Gaddam P, Wu G, McGee RB, Quinn E, Inaba H, Hartford C, Pui CH, Pappo AS, Edmonson M, Zhang M, Stepensky P, Steinherz P, Schrader K, Lincoln A, Bussel J, Lipkin S, Goldgur Y, Harit M, Stadler ZK, Mullighan C, Weintraub M, Shimamura A, Zhang J, Downing JR, Nichols KE*, Offit K*. Germline ETV6 mutations confer susceptibility to acute lymphoblastic leukemia and thrombocytopenia. PLOS Genetics Jun;11(6):e1005262, 2015. doi: 10.1371/journal.pgen.1005262. eCollection 2015 Jun.*Co-corresponding author.

Reichert SC, Zelley K, Nichols KE, Eberhard M, Zackai E, Martinez-Poyer J. Diagnosis of 9q22 microdeletion syndrome in utero following prenatal identification of craniosynostosis, overgrowth, and skeletal anomalies. Am J Med Genet, Part A 167(4):862-5, 2015.

Spessott WA, Sanmillan ML, McCormick M, Patel N, Villanueva J, Zhang K, Nichols KE*, Giraudo CG. Hemophagocytic lymphohistiocytosis caused by dominant negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion. Blood 125(10):1566-77, 2015.*Co-corresponding author.Hedayat M, Al-Herz W, Aghamohammadi A, Nichols KE, Rezaei N. Primary Immunodeficiencies and cancers. In Cancer Immunology: Translational Medicine from Bench to Bedside, Nima Rezaei (Ed). Springer Press, 2014.

Nichols KE, Marsh RM. The X-linked lymphoproliferative syndromes. In Immunologic Disorders in Infants and Children. 6th Edition. Stiehm ER, Ochs HD, Winkelstein JA, eds. Elsevier Saunders Press, 2014.

Zelley K, Lindell RB, Schiffman JD, Nichols KE. Genetic predisposition to cancer. Nathan and Oski’s Hematology and Oncology of Childhood. 8th Edition. Orkin SH, Nathan DG, Ginsburg D, Look AT, Lux SE, eds. Elsevier Saunders Press, 2014.

Alderfer MA, Zelley K, Lindell RB, Novokmet A, Mai PL, Garber J, Nathan D, Scollon S, Chun N, Patenaude A, Ford J, Plon SE, Schiffman JD, Diller LR, Savage S, Malkin D, Ford CA, Nichols KE. Parent Decision Making around Genetic Testing of Children for Germline TP53 Mutations. Cancer 121(2):286-93. doi: 10.1002/cncr.29027.

Malkin D, Nichols KE, Zelley K, Schiffman JD. Predisposition to Pediatric and Hematologic Cancers: A Moving Target. In American Society of Clinical Oncology 2014 Educational Book. Dizon DS, Pennell N, Burke L, eds. American Society of Clinical Oncology, 2014. doi: 10.14694/EdBook_AM.2014.34.e44.

Menard L, Chamberlain N, Cantaert T, Tangye SG, Riminton S, Church JA, Klion A, Cunninham-Rundles C, Nichols KE, Meffre E. Signaling Lymphocytic Activation Moledule (SLAM)-associated protein (SAP) regulates human B cell tolerance. J Allergy Clin Immunol 133(4):1149-61, 2014.

Bassiri H, Das R, Guan P, Barrett DM, Brennan PJ, Banerjee PP, WienerSJ, Orange JS, Brenner MB, Grupp SA, Nichols KE. iNKT cell cytotoxic responses control T-lymphoma growth in vitro and in vivo. Cancer Immunol Res 2(1):59-69, 2014.

Chaigne-Delalande B, Li F-Y, O’Connor GM, Lukacs MJ, Jiang P, Zheng L, Biancalana M, Pittaluga S, Matthews HF, Jancel T, Hetherington M, Bleesing JJ, Marsh A, Kuijpers TW, Nichols KE, Lucas CL, Nagpal S, Mehmet H, Su HC, Cohen JI, Uzel G, Lenardo MJ. Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection. Science 341(6142):186-191, 2013.

Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, WilkensAB, Zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA. Clinical features of three girls with mosaic genome wide paternal uniparental isodisomy. Am J Hum Genet 161(8):1929-1939, 2013.

Teachey DT, Rheingold SR, Maude SL, Barrett DM, Seif AE, Nichols KE, Suppa EK, Kalos M, Berg RA, Fitzgerald JC, Aplenc R, Gore L, Grupp SA. Cytokine release syndrome after blinatumomab treatment related to abnormal macrophage activation and ameliorated with cytokine directed therapy. Blood 121(26):5154-5157, 2013.

Chellapandian D, Das R, Zelley K, Wiener S, Zhao H, Teachey DT, Nichols KE. Treatment of Epstein-Barr virus-induced hemophagocytic lymphohistiocytosis with rituximab-containing immune-chemotherapeutic regimens. Br J Hematol 162(3):376-382, 2013.

May RM, Okumura M, Hsu C-J, Bassiri H, Rak G, Mace E, Baumgart T, Orange JS, Nichols KE, Kambayashi T. Two distinct signaling pathways contribute to the function of NK cells stimulated through ITAM-bearing activating receptors. Blood 121(16):3135-3146, 2013.

Das R, Bassiri H, Guan P, Wiener S, Banerjee P, Zhong M-C, Veillette A, Orange JS, Nichols KE. The adaptor molecule SAP plays essential roles during invariant NKT cell cytotoxicity and lytic synapse formation. Blood 121(17):3386-3395, 2013.

Kalish JM, Conlin LK, Mostoufi-Moab S, Wilkens AB, Mulchandani S, Zelley K, Kowalski M, Bhatti TR, Russo P, Mattei P, Mackenzie WG, LiVolsi V, Nichols KE, Biegel JA, Spinner NB, Deardorff MA. Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low-level Uniparental Disomy. Am J Med Genet 161(5):993-1001, 2013.

Hassan A, Booth C, Brightwell A, Allwood Z, Veys P, Rao K, Honig M, Friedrich W, Gennery A, Slatter M, Bredius R, Finocchi A, Cancrini C, Aiuti A, Porta F, Ridella M, Steward C, Filipovich A, Marsh R, Bordon V, Al-Muhsen S, Al-Mousa H, Alsum Z, Al-Dhekri H, Al Ghonaium A, Speckmann C, Fischer F, Mahlaoui N, Nichols KE, Grunebaum E, Al Zaharani D, Roifman CM, Boelens J, Davies EJ, Cavazzana-Calvo M, Notarangelo L, Gaspar HB. A study of the Inborn Errors Working Party of the Eur. Group for Blood and Marrow Transplantation and Eur. Soc. for Immunodeficiency. Outcome of Haematopoietic Stem Cell Transplantation for Adenosine Deaminase Deficient Severe Combined Immunodeficiency. Blood 120(7):3615-3624, 2012.

Palendira U, Low C, Bell AI, Ma CS, Abbott RJM, Phan TG, D Riminton S, Choo S, Smart JM, Lougaris V, Giliani S, Buckley RH, Grimbacher B, Alvaro F, Klion AD, Nichols KE, Adelstein S, Rickinson AB, Tangye SG. Expansion of somatically reverted memory CD8+ T cells in X-linked lymphoproliferative disease is due to selective pressure from Epstein Barr virus. J Exp Med 209(5):913-924, 2012.

Baldanzi G, Pighini A, Bettio V, Rainero E, Traini S, Chianale F, Porporato P, Filigheddu N, Mesturini R, Song S, Schweighoffer T, Patrussi L, Baldari CT, Zhong XP, van Blitterswijk WJ, Sinigaglia F, Nichols KE, Rubio I, Parolini O, Graziani A. SAP-mediated inhibition of diacylglycerol kinase alpha regulates TCR-induced diacylglycerol signalling. J Immunol 187(11):5941-5951, 2011.

Rothman JA, Das R, Teachey DT, Paessler ME, Nichols KE. Rapamycin Does Not Control Hemophagocytic Lymphohistiocytosis in LCMV-Infected Perforin-Deficient Mice. Pediatric Blood Cancer 57(7):1239-43, 2011.

Jyonouchi S, Abraham V, Orange JS, Spergel JM, Gober L, Dudek E, Saltzman R, Nichols KE*, Cianferoni A. Invariant natural killer T cells from food allergic versus non-allergic children exhibit differential responsiveness to milk derived sphingomyelin. J Allergy Clin Immunol 128(1):102-109, 2011. *Co-corresponding author.

Nallasamy S, Eagle RC, Rorke-Adams, Nichols KE, Brucker AH. Eye findings in X-linked lymphoproliferative disease. Retina 31(4):790-7, 2011.

Bunin GR, Felice MA, Davidson W, Friedman DL, Shields CL, Maidment A, O’Shea M, Nichols KE, Leahey A, Dunkel IJ, Jubran R, Rodriguez-Galindo C, Schmidt ML, Weinstein JL, Goldman S, Abramson DH, Wilson MW, Gallie BL, Chan HSL, Shapiro M, Cnaan A, Ganguly A, Meadows. Medical radiation exposure and risk of retinoblastoma resulting from new germline RB1 mutation. Int J Cancer 128(10):2393-404, 2011.

Booth C, Gilmour KC, Gennery AR, Slatter MA, Chapel H, Heath P, Steward C, Smith O, O’Meara A, Kerrigan H, Mahlaoui N, Cavazzana-Calvo M, Pachlopnick-Schmid J, Albert M, Notheis G, Reiber N, Strahm B, Ritterbusch H, Lankester A, Hartwig NG, Meyls I, Plebani A, Soresina A, Finocchi A, Pignata C, Broccoletti T, Bonanomi S, Peters C, Kalwak K, Pasic C, Sedlacek P, Jazbec J, Kanegane H, Terui K, Nichols KE, Hanson IC, Kapoor N, Haddad E, Cowan M, Choo S, Ip W, Arkwright P, Gaspar HB. X-linked Lymphoproliferative Disease due to SAP/SH2D1A deficiency: A Multicentre Study on the manifestations, management and outcome of the disease. Blood 117(1):53-62, 2011.

Shlien A,Baskin B, Isabel M, Achatz W, Dimitrios Stavropoulos J, Nichols KE, Hudgins L, Morel CF, Adam MP, Zhukova N, Rotin L, Novokmet A, Druker H, Shago M, Ray PN, Hainaut P, Malkin D. A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes. American Journal of Human Genetics 87(5):631-42, 2010.

Seif A, Biegel J, Lange BJ, Nichols KE. Inherited predisposition to childhood leukemia. In Childhood Leukemias. 3rd Edition. Pui CH, ed. Cambridge University Press, Cambridge England, 2010.

Kovalovsky D, Alonzo ES, Uhe OU, Eidson M, Nichols KE, Sant’Angelo DB. PLZF induces the spontaneious acquisition of memory/effector functions in T cells independently of Natural Killer T cell related signals. J Immunol 184(12):6746-6755, 2010.

Chen J-H, Fleming MD, Pinkus GS, Pinkus JL, Nichols KE, Jun MQ, Perez-Atayde AR. Histopathology of the liver in familial hemophagocytic lymphohistiocytosis. Am J Surg Pathol 34(6):852-867, 2010.

Alonzo E, Gottschalk R, Das J, Egawa T, Hobbs R, Pandolfi P, Pereira P, Nichols KE, Koretzky G, Jordan M, Sant'Angelo D. Development of Promyelocytic Zinc Finger and ThPOK-Expressing Innate γδ Innate T cells is controlled by strength of TCR signaling and Id3. Journal of Immunology184(3):1268-1279, 2010.

Lenox LE, Kambayashi T, Okamura M, Prieto C, Sauer K, Bunte R, Jordan MS, Koretzky GA, Nichols KE. Mutation of tyrosine 145 of lymphocyte cytosolic protein (Lcp; SLP-76) protects mice from anaphylaxis and arthritis. J Allergy Clin Immunol 124(5):1088-1098, 2009.

Snow AL, Marsh R, Krummey SM, Roehrs P, Young LR, Kejian Zhang, Jack van Hoff, Dhar D, Nichols KE, Filipovich AH, Su HC, Bleesing JJ, Lenardo MJ. SAP deficiency impairs NTB-A-dependent, restimulation-induced apoptosis of T cells from X-linked lymphoproliferative disease patients, J Clin Invest 119(10):2976-2984, 2009.

Talaat KR, Rothman JA, Cohen JI, Santi M, Rorke-Adams LB, Choi JK, Guzman M, Zimmerman R, Nallasamy S, Brucker A, Quezado M, Pittalugia S, Patronas NJ, Klion AD, Nichols KE. Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection. Pediatr Blood Cancer 53(6):1120-1123, 2009.

Last update: October 2019