NLRC4 inflammasomopathies
Romberg, Neil, Vogel, Tiphanie P, Canna, Scott W
Published in Current opinion in allergy and clinical immunology (01.12.2017)
Published in Current opinion in allergy and clinical immunology (01.12.2017)
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Journal Article
Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition
Canna, Scott W., MD, Girard, Charlotte, MD, Malle, Louise, BS, de Jesus, Adriana, MD, PhD, Romberg, Neil, MD, Kelsen, Judith, MD, Surrey, Lea F., MD, Russo, Pierre, MD, Sleight, Andrew, PhD, Schiffrin, Eduardo, MD, Gabay, Cem, MD, Goldbach-Mansky, Raphaela, MD, MHS, Behrens, Edward M., MD
Published in Journal of allergy and clinical immunology (01.05.2017)
Published in Journal of allergy and clinical immunology (01.05.2017)
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Journal Article
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
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
Published in Nature genetics (01.10.2014)
Published in Nature genetics (01.10.2014)
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Journal Article
Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States
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
Published in JAMA : the journal of the American Medical Association (20.08.2014)
Published in JAMA : the journal of the American Medical Association (20.08.2014)
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Journal Article
Germline hypomorphic CARD11 mutations in severe atopic disease
Ma, Chi A, Stinson, Jeffrey R, Zhang, Yuan, Abbott, Jordan K, Weinreich, Michael A, Hauk, Pia J, Reynolds, Paul R, Lyons, Jonathan J, Nelson, Celeste G, Ruffo, Elisa, Dorjbal, Batsukh, Glauzy, Salomé, Yamakawa, Natsuko, Arjunaraja, Swadhinya, Voss, Kelsey, Stoddard, Jennifer, Niemela, Julie, Zhang, Yu, Rosenzweig, Sergio D, McElwee, Joshua J, DiMaggio, Thomas, Matthews, Helen F, Jones, Nina, Stone, Kelly D, Palma, Alejandro, Oleastro, Matías, Prieto, Emma, Bernasconi, Andrea R, Dubra, Geronimo, Danielian, Silvia, Zaiat, Jonathan, Marti, Marcelo A, Kim, Brian, Cooper, Megan A, Romberg, Neil, Meffre, Eric, Gelfand, Erwin W, Snow, Andrew L, Milner, Joshua D
Published in Nature genetics (01.08.2017)
Published in Nature genetics (01.08.2017)
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Journal Article
CVID-associated TACI mutations affect autoreactive B cell selection and activation
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
Published in The Journal of clinical investigation (01.10.2013)
Published in The Journal of clinical investigation (01.10.2013)
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Journal Article
Mapping effector genes at lupus GWAS loci using promoter Capture-C in follicular helper T cells
Su, Chun, Johnson, Matthew E, Torres, Annabel, Thomas, Rajan M, Manduchi, Elisabetta, Sharma, Prabhat, Mehra, Parul, Le Coz, Carole, Leonard, Michelle E, Lu, Sumei, Hodge, Kenyaita M, Chesi, Alessandra, Pippin, James, Romberg, Neil, Grant, Struan F A, Wells, Andrew D
Published in Nature communications (03.07.2020)
Published in Nature communications (03.07.2020)
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Journal Article
CD40LG duplication-associated autoimmune disease is silenced by nonrandom X-chromosome inactivation
Le Coz, Carole, Trofa, Melissa, Syrett, Camille M., Martin, Anna, Jyonouchi, Harumi, Jyonouchi, Soma, Anguera, Montserrat C., Romberg, Neil
Published in Journal of allergy and clinical immunology (01.06.2018)
Published in Journal of allergy and clinical immunology (01.06.2018)
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Journal Article
Implicating effector genes at COVID-19 GWAS loci using promoter-focused Capture-C in disease-relevant immune cell types
Pahl, Matthew C, Le Coz, Carole, Su, Chun, Sharma, Prabhat, Thomas, Rajan M, Pippin, James A, Cruz Cabrera, Emylette, Johnson, Matthew E, Leonard, Michelle E, Lu, Sumei, Chesi, Alessandra, Sullivan, Kathleen E, Romberg, Neil, Grant, Struan F A, Wells, Andrew D
Published in Genome Biology (03.06.2022)
Published in Genome Biology (03.06.2022)
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Journal Article
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients
Le Coz, Carole, Nguyen, David N, Su, Chun, Nolan, Brian E, Albrecht, Amanda V, Xhani, Suela, Sun, Di, Demaree, Benjamin, Pillarisetti, Piyush, Khanna, Caroline, Wright, Francis, Chen, Peixin Amy, Yoon, Samuel, Stiegler, Amy L, Maurer, Kelly, Garifallou, James P, Rymaszewski, Amy, Kroft, Steven H, Olson, Timothy S, Seif, Alix E, Wertheim, Gerald, Grant, Struan F A, Vo, Linda T, Puck, Jennifer M, Sullivan, Kathleen E, Routes, John M, Zakharova, Viktoria, Shcherbina, Anna, Mukhina, Anna, Rudy, Natasha L, Hurst, Anna C E, Atkinson, T Prescott, Boggon, Titus J, Hakonarson, Hakon, Abate, Adam R, Hajjar, Joud, Nicholas, Sarah K, Lupski, James R, Verbsky, James, Chinn, Ivan K, Gonzalez, Michael V, Wells, Andrew D, Marson, Alex, Poon, Gregory M K, Romberg, Neil
Published in The Journal of experimental medicine (05.07.2021)
Published in The Journal of experimental medicine (05.07.2021)
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Journal Article
Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients
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
Published in The Journal of clinical investigation (01.10.2015)
Published in The Journal of clinical investigation (01.10.2015)
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Journal Article
Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival
Romberg, Neil, MD, Morbach, Henner, MD, Lawrence, Monica G., MD, Kim, Sanghyun, MD, PhD, Kang, Insoo, MD, Holland, Steven M., MD, Milner, Joshua D., MD, Meffre, Eric, PhD
Published in Journal of allergy and clinical immunology (01.06.2013)
Published in Journal of allergy and clinical immunology (01.06.2013)
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Journal Article
Distinct stage-specific transcriptional states of B cells derived from human tonsillar tissue
Espinoza, Diego A, Le Coz, Carole, Cruz Cabrera, Emylette, Romberg, Neil, Bar-Or, Amit, Li, Rui
Published in JCI insight (10.04.2023)
Published in JCI insight (10.04.2023)
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Journal Article
TNF receptor superfamily member 13b ( TNFRSF13B ) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development
Romberg, Neil, MD, Virdee, Manmeet, BS, Chamberlain, Nicolas, BS, Oe, Tyler, BA, Schickel, Jean-Nicolas, PhD, Perkins, Tiffany, MD, Cantaert, Tineke, PhD, Rachid, Rima, MD, Rosengren, Sally, MD, Palazzo, Regina, MD, Geha, Raif, MD, PhD, Cunningham-Rundles, Charlotte, MD, PhD, Meffre, Eric, PhD
Published in Journal of allergy and clinical immunology (01.11.2015)
Published in Journal of allergy and clinical immunology (01.11.2015)
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Journal Article
Expansion Of Circulating T Follicular Helper Cells In CVID Patients With Autoimmune Cytopenias
Romberg, Neil D., Dr, Hsu, Ida, Dr, Price, Christina C., Dr, Cunningham-Rundles, Charlotte, Dr, Meffre, Eric, Dr
Published in Journal of allergy and clinical immunology (01.02.2014)
Published in Journal of allergy and clinical immunology (01.02.2014)
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Journal Article
P269: Essential role of genetic counseling in a multidisciplinary immune dysregulation program
Platt, Anna, Bassiri, Hamid, Behrens, Edward, Canna, Scott, Gollomp, Kandace, Kelsen, Judith, Lambert, Michele, Petrosa, Whitney, Romberg, Neil, Seif, Alix, Sullivan, Kathleen, Teachey, David
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation
Le Coz, Carole, Nolan, Brian E, Trofa, Melissa, Kamsheh, Alicia M, Khokha, Mustafa K, Lakhani, Saquib A, Novelli, Antonio, Zackai, Elaine H, Sullivan, Kathleen E, Briuglia, Silvana, Bhatti, Tricia R, Romberg, Neil
Published in Frontiers in immunology (24.07.2018)
Published in Frontiers in immunology (24.07.2018)
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Journal Article
Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies
Perkins, Tiffany, Rosenberg, Jacob M, Le Coz, Carole, Alaimo, Joseph T, Trofa, Melissa, Mullegama, Sureni V, Antaya, Richard J, Jyonouchi, Soma, Elsea, Sarah H, Utz, Paul J, Meffre, Eric, Romberg, Neil
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.09.2017)
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.09.2017)
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Journal Article