Publications

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.

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.

2014

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.

2013

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.

2012

Ombrello Michael J, Remmers Elaine F, Sun Guangping, Freeman Alexandra F, Datta Shrimati, Torabi-Parizi Parizad, Subramanian Naeha, Bunney Tom D, Baxendale Rhona W, Martins Marta S, Romberg Neil, Komarow Hirsh, Aksentijevich Ivona, Kim Hun Sik, Ho Jason, Cruse Glenn, Jung Mi-Yeon, Gilfillan Alasdair M, Metcalfe Dean D, Nelson Celeste, O’Brien Michelle, Wisch Laura, Stone Kelly, Douek Daniel C, Gandhi Chhavi, Wanderer Alan A, Lee Hane, Nelson Stanley F, Shianna Kevin V, Cirulli Elizabeth T, Goldstein David B, Long Eric O, Moir Susan, Meffre Eric, Holland Steven M, Kastner Daniel L, Katan Matilda, Hoffman Hal M, Milner Joshua D: Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. The New England journal of medicine 366(4): 330-8, Jan 2012.

Romberg Neil, Ng Yen Sheng, Cunningham-Rundles Charlotte, Meffre Eric.Common variable immunodeficiency patients with increased CD21-/lo B-cells suffer from altered receptor editing and defective central B-cell tolerance. Blood 118(22): 5977-5978, Nov 2011.

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