Neil D. Romberg, MD

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Neil D. Romberg, MD, is an attending physician with the Division of Allergy and Immunology at Children's Hospital of Philadelphia.

Areas of Expertise: Care of patients with inherited diseases of the immune system with specific scientific expertise in Common Variable Immune Deficiency and Smith Magenis Syndrome-Associated Immune Deficiency
Locations: Main Hospital
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)


Dr. Romberg is a clinical immunologist who also heads a translational immunology research laboratory. The laboratory investigates the regulatory mechanisms that enable our immune systems to vigorously attack infectious pathogens but not our own bodies. It is particularly interested in studying the immune system of patients with primary immunological diseases (PID) who are susceptible to both life-threatening infections and to the development of autoimmune diseases. Greater insights into the pathology of these rare diseases will enable the rationale development of targeted therapies for PIDs and for more common diseases that have an immunologic basis.

In addition to basic scientific work, the Romberg lab has discovered or has contributed to the discovery of several inherited diseases of the immune system and identified personalized therapies for affected patients. Such disorders include:

  • CD40LG duplication associated autoimmune disease (40DAD)
  • Combined CD28/CTLA4 haploinsufficiency
  • Autoinflammation with infantile enterocolitis (AIFEC)
  • Hypomorphic CARD11 mutation related atopic disease

Dr. Romberg and one of his patients with 40DAD, Elijah, were featured on Megyn Kelly TODAY.

Education and Training

Medical School

MD - Pennsylvania State College of Medicine, Hershey, PA


Pediatrics - New York University School of Medicine, New York, NY (Chief resident)


Allergy and Clinical Immunology, Yale University, New Haven, CT

Board Certification

Allergy and Immunology – American Board of Allergy and Immunology
Pediatrics – American Board of Pediatrics

Titles and Academic Titles

Attending Physician

Jeffrey Modell Endowed Chair in Pediatric Immunology Research

Associate Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

Departments and Services




Khanna C, Le Coz C, Vaccaro C, Pillarisetti P, Knox AVC, Sy A, Behrens EM, Buchbinder D, Romberg N.: Lymphocytes Utilize Somatic Mutations, Epigenetic Silencing, and the Proteasome to Escape Truncated WASP Expression. J Clin Immunol 42(4): 753-759, May 2022.

Pahl MC, Le Coz C, Su C, Sharma P, Thomas RM, Pippin JA, Cruz Cabrera E, Johnson ME, Leonard ME, Lu S, Chesi A, Sullivan KE, Romberg N, Grant SFA, Wells AD.: Implicating effector genes at COVID-19 GWAS loci using promoter-focused Capture-C in disease-relevant immune cell types. Genome Biol 23(2): 125, Jun 2022. PMCID: PMC9164584


Sun D, Le Coz C, Bunin N, Romberg N.: Hematopoietic Stem Cell Transplantation Successfully Treats CD40LG Duplication. J Clin Immunol 41(7): 1668-1670, Oct 2021.

Le Coz C, Nguyen DN, Su C, Nolan BE, Albrecht AV, Xhani S, Sun D, Demaree B, Pillarisetti P, Khanna C, Wright F, Chen PA, Yoon S, Stiegler AL, Maurer K, Garifallou JP, Rymaszewski A, Kroft SH, Olson TS, Seif AE, Wertheim G, Grant SFA, Vo LT, Puck JM, Sullivan KE, Routes JM, Zakharova V, Shcherbina A, Mukhina A, Rudy NL, Hurst ACE, Atkinson TP, Boggon TJ, Hakonarson H, Abate AR, Hajjar J, Nicholas SK, Lupski JR, Verbsky J, Chinn IK, Gonzalez MV, Wells AD, Marson A, Poon GMK, Romberg N.: Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. J Exp Med 218(7): e20201750, Jul 2021. PMCID: PMC8105723


Su C, Johnson ME, Torres A, Thomas RM, Manduchi E, Sharma P, Mehra P, Le Coz C, Leonard ME, Lu S, Hodge KM, Chesi A, Pippin J, Romberg N, Grant SFA, Wells AD.: Mapping effector genes at lupus GWAS loci using promoter Capture-C in follicular helper T cells. Nat Commun 11(5): 3294, Jul 2020. PMCID: PMC7335045


Le Coz C, Bengsch B, Khanna C, Trofa M, Ohtani T, Nolan BE, Henrickson SE, Lambert MP, Kim TO, Despotovic JM, Feldman S, Fadugba OO, Takach P, Ruffner M, Jyonouchi S, Heimall J, Sullivan KE, Wherry EJ, Romberg N.: Common variable immunodeficiency-associated endotoxemia promotes early commitment to the T follicular lineage. J Allergy Clin Immunol 144(6): 1660-1673, Dec 2019. PMCID: PMC6900457


Roth TL, Puig-Saus C, Yu R, Shifrut E, Carnevale J, Li PJ, Hiatt J, Saco J, Krystofinski P, Li H, Tobin V, Nguyen DN, Lee MR, Putnam AL, Ferris AL, Chen JW, Schickel JN, Pellerin L, Carmody D, Alkorta-Aranburu G, Del Gaudio D, Matsumoto H, Morell M, Mao Y, Cho M, Quadros RM, Gurumurthy CB, Smith B, Haugwitz M, Hughes SH, Weissman JS, Schumann K, Esensten JH, May AP, Ashworth A, Kupfer GM, Greeley SAW, Bacchetta R, Meffre E, Roncarolo MG, Romberg N, Herold KC, Ribas A, Leonetti MD, Marson A. Reprogramming human T cell function and specificity with non-viral genome targeting. Nature. 2018; 559(7714):405-409.

Romberg N, Le Coz C, Glauzy S, Schickel JN, Trofa M, Nolan BE, Paessler M, Xu ML, Lambert MP, Lakhani SA, Khokha MK, Jyonouchi S, Heimall J, Takach P, Maglione PJ, Catanzaro J, Hsu FI, Sullivan KE, Cunningham-Rundles C, Meffre E. Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses. The Journal of allergy and clinical immunology. 2018.

Lawless D, Geier CB, Farmer JR, Lango Allen H, Thwaites D, Atschekzei F, Brown M, Buchbinder D, Burns SO, Butte MJ, Csomos K, Deevi SVV, Egner W, Ehl S, Eibl MM, Fadugba O, Foldvari Z, Green DM, Henrickson SE, Holland SM, John T, Klemann C, Kuijpers TW, Moreira F, Piller A, Rayner-Matthews P, Romberg ND, Sargur R, Schmidt RE, Schröder C, Schuetz C, Sharapova SO, Smith KGC, Sogkas G, Speckmann C, Stirrups K, Thrasher AJ, Wolf HM, Notarangelo LD, Anwar R, Boyes J, Ujhazi B, Thaventhiran J, Walter JE, Savic S. Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. The Journal of allergy and clinical immunology. 2018; 141(6):2303-2306. NIHMSID: NIHMS962187.

Le Coz C, Trofa M, Syrett CM, Martin A, Jyonouchi H, Jyonouchi S, Anguera MC, Romberg N. CD40LG duplication-associated autoimmune disease is silenced by nonrandom X-chromosome inactivation. The Journal of allergy and clinical immunology. 2018; 141(6):2308-2311.e7. NIHMSID: NIHMS946902

Le Coz C, Nolan BE, Trofa M, Kamsheh AM, Khokha MK, Lakhani SA, Novelli A, Zackai EH, Sullivan KE, Briuglia S, Bhatti TR, Romberg N. Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation. Frontiers in immunology. 2018; 9:1715.


Romberg N, Vogel TP, Canna SW. NLRC4 inflammasomopathies. Current opinion in allergy and clinical immunology. 2017; 17(6):398-404. NIHMSID: NIHMS971618

Perkins T, Rosenberg JM, Le Coz C, Alaimo JT, Trofa M, Mullegama SV, Antaya RJ, Jyonouchi S, Elsea SH, Utz PJ, Meffre E, Romberg N. Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. The journal of allergy and clinical immunology. In practice. 2017; 5(5):1344-1350.e3. NIHMSID: NIHMS851175

Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg N, Meffre E, Gelfand EW, Snow AL, Milner JD. Germline hypomorphic CARD11 mutations in severe atopic disease. Nature genetics. 2017; 49(8):1192-1201. NIHMSID: NIHMS877980

Canna SW, Girard C, Malle L, de Jesus A, Romberg N, Kelsen J, Surrey LF, Russo P, Sleight A, Schiffrin E, Gabay C, Goldbach-Mansky R, Behrens EM. Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition. The Journal of allergy and clinical immunology. 2017; 139(5):1698-1701. NIHMSID: NIHMS838477


Romberg Neil, Virdee Manmeet, Chamberlain Nicolas, Oe Tyler, Schickel Jean-Nicolas, Perkins Tiffany, Cantaert Tineke, Rachid Rima, Rosengren Sally, Palazzo Regina, Geha Raif, Cunningham-Rundles Charlotte, Meffre Eric: TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development. The Journal of allergy and clinical immunology Nov 2015.

Pala Francesca, Morbach Henner, Castiello Maria Carmina, Schickel Jean-Nicolas, Scaramuzza Samantha, Chamberlain Nicolas, Cassani Barbara, Glauzy Salome, Romberg Neil, Candotti Fabio, Aiuti Alessandro, Bosticardo Marita, Villa Anna, Meffre Eric: Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients. The Journal of clinical investigation Sep 2015.


Romberg Neil, Al Moussawi Khatoun, Nelson-Williams Carol, Stiegler Amy L, Loring Erin, Choi Murim, Overton John, Meffre Eric, Khokha Mustafa K, Huttner Anita J, West Brian, Podoltsev Nikolai A, Boggon Titus J, Kazmierczak Barbara I, Lifton Richard P: Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nature genetics 46(10): 1135-9, Oct 2014.

5. Kwan Antonia, Abraham Roshini S, Currier Robert, Brower Amy, Andruszewski Karen, Abbott Jordan K, Baker Mei, Ballow Mark, Bartoshesky Louis E, Bonilla Francisco A, Brokopp Charles, Brooks Edward, Caggana Michele, Celestin Jocelyn, Church Joseph A, Comeau Anne Marie, Connelly James A, Cowan Morton J, Cunningham-Rundles Charlotte, Dasu Trivikram, Dave Nina, De La Morena Maria T, Duffner Ulrich, Fong Chin-To, Forbes Lisa, Freedenberg Debra, Gelfand Erwin W, Hale Jaime E, Hanson I Celine, Hay Beverly N, Hu Diana, Infante Anthony, Johnson Daisy, Kapoor Neena, Kay Denise M, Kohn Donald B, Lee Rachel, Lehman Heather, Lin Zhili, Lorey Fred, Abdel-Mageed Aly, Manning Adrienne, McGhee Sean, Moore Theodore B, Naides Stanley J, Notarangelo Luigi D, Orange Jordan S, Pai Sung-Yun, Porteus Matthew, Rodriguez Ray, Romberg Neil, Routes John, Ruehle Mary, Rubenstein Arye, Saavedra-Matiz Carlos A, Scott Ginger, Scott Patricia M, Secord Elizabeth, Seroogy Christine, Shearer William T, Siegel Subhadra, Silvers Stacy K, Stiehm E Richard, Sugerman Robert W, Sullivan John L, Tanksley Susan, Tierce Millard L, Verbsky James, Vogel Beth, Walker Rosalyn, Walkovich Kelly, Walter Jolan E, Wasserman Richard L, Watson Michael S, Weinberg Geoffrey A, Weiner Leonard B, Wood Heather, Yates Anne B, Puck Jennifer M, Bonagura Vincent R: Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 312(7): 729-38, Aug 2014.


Romberg Neil, Chamberlain Nicolas, Saadoun David, Gentile Maurizio, Kinnunen Tuure, Ng Yen Shing, Virdee Manmeet, Menard Laurence, Cantaert Tineke, Morbach Henner, Rachid Rima, Martinez-Pomar Natalia, Matamoros Nuria, Geha Raif, Grimbacher Bodo, Cerutti Andrea, Cunningham-Rundles Charlotte, Meffre Eric: CVID-associated TACI mutations affect autoreactive B cell selection and activation. The Journal of clinical investigation 123(10): 4283-93, Oct 2013.

Romberg Neil, Morbach Henner, Lawrence Monica G, Kim Sanghyun, Kang Insoo, Holland Steven M, Milner Joshua D, Meffre Eric: Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival. The Journal of allergy and clinical immunology 131(6): 1691-3, Jun 2013.

Awards and Honors

2020, Lady Barbara Colyton Prize for Autoimmune Research, University of Pennsylvania

2015, American Society of Clinical Investigation (ASCI) Young Physician-Scientist Award

2013-2015, Timber Spears Endowment for Pediatric Primary Immune Deficiency Research

2013, NIH Loan Repayment Program for Clinical Research Recipient

2011-2014, Yale Child Health  Research Center Award (K12)

2010, Clinical Immunology Society/Talecris Fellowship Award for Research in Primary Immune Deficiency

2010, The Best of Basic Clinical Immunology FIT Poster Award, AAAAI Annual Meeting

Editorial and Academic Positions

2013-present, Ad-Hoc Reviewer, Journal of Allergy and Clinical Immunology

2014-present, Ad-Hoc Reviewer, Journal of Clinical Immunology

Leadership and Memberships

Memberships in Professional Organizations

2009-present, Clinical Immunology Society

2008-present, American Academy of Allergy, Asthma and Immunology (Member, Primary Immune Deficiencies Diseases Committee)