The Papers
2024
Crockett AM, Kebir H, Anderson SA, Jyonouchi S, Romberg N, Alvarez JI.. 22q11.2 Deletion-Associated Blood-Brain Barrier Permeability Potentiates
Systemic Capillary Leak Syndrome Neurologic Features. Journal of Clinical Immunology. April 2024.
Romberg N, Le Coz C. Common variable immunodeficiency, cross currents, and prevailing winds. Immunologic Reviews, March 2024
2023
Espinoza DA, Le Coz C, Cruz Cabrera E, Romberg N, Bar-Or A, Li R. Distinct stage-specific transcriptional states of B cells derived from human tonsillar tissue. JCI Insight. 2023 Feb
Le Coz C, Oldridge DA, Herati RS, De Luna N, Garifallou J, Cruz Cabrera E, Belman JP, Pueschl D, Silva LV, Knox AVC, Reid W, Yoon S, Zur KB, Handler SD, Hakonarson H, Wherry EJ, Gonzalez M, Romberg N. Human T follicular helper clones seed the germinal center-resident regulatory pool. Science Immunology. 2023.
Penner C, Datta R, Ebube J, Romberg N. Enterobacter cloacae, a Rare Cause of Cervical Lymphadenitis in X-Linked Chronic Granulomatous Disease. J Clin Immunol. 2023 Sep 28.
2022
Sun D, Romberg N. High cost of immunoglobulin replacement therapy: Causes and implications. Annals of Allergy, Asthma, and Immunology. November, 2022
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R.(and plenty more).... Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome. The Journal of Allergy and Clinical Immunology. 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 Biology, June 2022
Nguyen K, Alsaati N, Le Coz C, Romberg N. Genetic obstacles to developing and tolerizing human B cells. WIREs Mechanism of Disease, July 2022
Li R, Tang H, Burns JC, Hopkins BT, Le Coz C, Zhang B, de Barcelos IP, Romberg N, Goldstein AC, Banwell BL, Luning Prak ET, Mingueneau M, Bar-Or A. BTK inhibition limits B-cell-T-cell interaction through modulation of B-cell metabolism: implications for multiple sclerosis therapy. Acta Neuropathologica. 2022
Lederer K, Bettini E, Parvathaneni K, Painter MM, Agarwal D, Lundgreen KA, Weirick M, Muralidharan K, Castaño D, Goel RR, Xu X, Drapeau EM, Gouma S, Ort JT, Awofolaju M, Greenplate AR, Le Coz C, Romberg N, Trofe-Clark J, Malat G, Jones L, Rosen M, Weiskopf D, Sette A, Besharatian B, Kaminiski M, Hensley SE, Bates P, Wherry EJ, Naji A, Bhoj V, Locci M. Germinal center responses to SARS-CoV-2 mRNA vaccines in healthy and immunocompromised individuals. Cell. Feb 2022
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. Journal of Clinical Immunology. Feb 2022
Li EY, Xu J, Nelson ND, Teachey DT, Tan K, Romberg N, Behrens E, Pillai V. Kikuchi-Fujimoto disease is mediated by an aberrant type I interferon response. Modern Pathology. January 2022
Shahin T, Mayr D, Shoeb MR, Kuehn HS, Hoeger B, Giuliani S, Gawriyski L, Yüce Petronczki Ö, Hadjadj J, Kostel Bal S, Zoghi S, Haimel M, Jimenez-Heredia R, Boutboul D, Triebwasser MP, Rialland-Battisti F, Costedoat-Chalumeau N, Quartier P, Tangye SG, Fleisher TA, Rezaei N, Romberg N, Latour S, Varjosalo M, Halbritter F, Rieux-Laucat F, Castanon I, Rosenzweig S, Boztug K. Identification of Germline Monoallelic Mutations in IKZF2 in Patients with Immune Dysregulation. Blood Advances. April 2022
2021
Sun D, Heimall JR, Greenhawt MJ, Bunin NJ, Shaker MS, Romberg N. Cost Utility of Lifelong Immunoglobulin Replacement Therapy vs Hematopoietic Stem Cell Transplant to Treat Agammaglobulinemia. JAMA Pediatrics. 2021 Nov 15
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. Journal of Experimental Medicine. 2021 Jul 5;218(7)
Otto WR, Behrens EM, Teachey DT, Lamson DM, Barrett DM, Bassiri H, Lambert MP, Mount S, Petrosa WL, Romberg N, Sullivan KE, Topjian AA, Fisher BT, Kajon AE. Human Adenovirus 7-Associated Hemophagocytic Lymphohistiocytosis-Like Illness: Clinical and Virological Characteristics in a Cluster of Five Pediatric Cases. Clinical Infectious Disease. 2021, October
Sun D, Le Coz C, Bunin N, Romberg N. Hematopoietic Stem Cell Transplantation Successfully Treats CD40LG Duplication. Journal of Clinical Immunology. 2021 Jun 22
Si SJ, Tasian SK, Bassiri H, Fisher BT, Atalla J, Patel R, Romberg N, Lambert MP, Paessler M, Behrens EJ, Teachey DT, Sullivan KE. Diagnostic Challenges in Pediatric Hemophagocytic Lymphohistiocytosis. Journal of Clinical Immunology. 2021, March
Triebwasser MP, Barrett DM, Bassiri H, Bunin N, Elgarten C, Freedman J, Geera AS, Monos D, Lambert MP, Olson T, Seif AE, Paessler M, Petrosa W, Reilly AF, Romberg N, Sullivan KE, Quinn GZ, Behrens E, Teachey DT. Combined use of emapalumab and ruxolitinib in a patient with refractory hemophagocytic lymphohistiocytosis was safe and effective. Pediatric Blood and Cancer. 2021 Mar 22
Shin JJ, Catanzaro J, Yonkof JR, Delmonte O, Sacco K, Shin MS, Reddy S, Whittington PJ, Soffer G, Mustillo PJ, Sullivan KE, Notarangelo LD, Abraham RS, Romberg N, Kang I. Infectious Complications Predict Premature CD8+ T-cell Senescence in CD40 Ligand-Deficient Patients. Journal of Clinical Immunology. 2021, Jan 26.
2020
Su, C., Johnson, M. E., Torres, A., Thomas, R. M., Manduchi, E., Sharma, P., Mehra, P., Le Coz, C., Leonard, M. E., Lu, S., Hodge, K. M., Chesi, A., Pippin, J., Romberg, N., Grant, S., & Wells, A. D. Mapping effector genes at lupus GWAS loci using promoter Capture-C in follicular helper T cells. Nature Communications, 2020 11(1), 3294.
Diorio C, Henrickson SE, Vella LA, McNerney KO, Chase J, Burudpakdee C, Lee JH, Jasen C, Balamuth F, Barrett DM, Banwell BL, Bernt KM, Blatz AM, Chiotos K, Fisher BT, Fitzgerald JC, Gerber JS, Gollomp K, Gray C, Grupp SA, Harris RM, Kilbaugh TJ, John ARO, Lambert M, Liebling EJ, Paessler ME, Petrosa W, Phillips C, Reilly AF, Romberg ND, Seif A, Sesok-Pizzini DA, Sullivan KE, Vardaro J, Behrens EM, Teachey DT, Bassiri H. Multisystem inflammatory syndrome in children and COVID-19 are distinct presentations of SARS-CoV-2. Journal of Clinical Investigation. 2020 Nov 2;130(11):5967-5975.
2019
Carole Le Coz, Bertram Bengsch, Caroline Khanna, Melissa Trofa,, Takuya Ohtani, Brian E. Nolan, Sarah E. Henrickson, Michele P. Lambert, Taylor Olmsted Kim, Jenny M Despotovic, Scott Feldman, Olajumoke O. Fadugba, Patricia Takach, Melanie Ruffner, Soma Jyonouchi, Jennifer Heimall, Kathleen E. Sullivan, E. John Wherry and Neil Romberg. Common variable immunodeficiency-associated endotoxemia promotes early commitment to the T follicular lineage. The Journal of Allergy and Clinical Immunology. epublished August 2019
Sng J, Ayoglu B, Chen JW, Schickel JN, Ferre EMN, Glauzy S, Romberg N, Hoenig M, Cunningham-Rundles C, Utz PJ, Lionakis MS, Meffre E. AIRE expression controls the peripheral selection of autoreactive B cells. Science Immunology. April 2019.
Romberg N, Le Coz C, Glauzy S, Schickel JN, Trofa M, Nolan BE, Paessler M, LuQing Xu M, Lambert M, Lakhani SA, Khokha MK, Jyonouchi S, Heimall J, Takach P, Maglione PJ, Catanzaro J, Hsu FI, Sullivan KE, Cunningham-Rundles C, Meffre E. CVID patients with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses. The Journal of Allergy and Clinical Immunology. January 2019.
Cai Y, Abdel-Mohsen M, Tomescu C, Xue F, Wu G, Howell BJ, Ai Y, Sun J, Azzoni L, Le Coz C, Romberg N, Montaner LJ. BCL6 Inhibitor-Mediated Downregulation of Phosphorylated SAMHD1 and T Cell Activation Are Associated with Decreased HIV Infection and Reactivation. Journal of Virology. January 2019.
2018
Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schäffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrasakan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL. HypomorphicCARD11 mutations associated with diverse immunologic phenotypes with or without atopic disease. The Journal of Allergy and Clinical Immunology. August 2018.
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 (CTLA4) Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation. Frontiers in Immunology. July 2018
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. July 2018.
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 non-random X-chromosome inactivation. The Journal of Allergy and Clinical Immunology. June 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; NIHR BioResource–Rare Diseases Consortium, 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. June 2018.
2017
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 ND, Meffre E, Gelfand EW, Snow AL, Milner JD. Germline hypomorphic CARD11 mutations in severe atopic disease. Nature Genetics. June 2017
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. May 2017
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. March 2017
2015
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.
Before 2015…
Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nature Genetics. October 2014.
Romberg N, Chamberlain N, Saadoun D, Gentile M, Kinnunen T, Ng YS, Virdee M, Menard L, Cantaert T, Morbach H, Rachid R, Martinez-Pomar N, Matamoros N, Geha R, Grimbacher B, Cerutti A, Cunningham-Rundles C, Meffre E. CVID-associated TACI mutations affect autoreactive B cell selection and activation. Journal of Clinical Investigation. October 2013.
Romberg N, Morbach H, Lawrence MG, Kim S, Kang I, Holland SM, Milner JD, Meffre E. Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival. J Allergy Clin Immunol. June 2013