Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome
Gambineri, Eleonora, Ciullini Mannurita, Sara, Hagin, David, Vignoli, Marina, Anover-Sombke, Stephanie, DeBoer, Stacey, Segundo, Gesmar R S, Allenspach, Eric J, Favre, Claudio, Ochs, Hans D, Torgerson, Troy R
Published in Frontiers in immunology (01.11.2018)
Published in Frontiers in immunology (01.11.2018)
Get full text
Journal Article
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes
Salzer, Ulrich, Bacchelli, Chiara, Buckridge, Sylvie, Pan-Hammarström, Qiang, Jennings, Stephanie, Lougaris, Vassilis, Bergbreiter, Astrid, Hagena, Tina, Birmelin, Jennifer, Plebani, Alessandro, Webster, A. David B., Peter, Hans-Hartmut, Suez, Daniel, Chapel, Helen, McLean-Tooke, Andrew, Spickett, Gavin P., Anover-Sombke, Stephanie, Ochs, Hans D., Urschel, Simon, Belohradsky, Bernd H., Ugrinovic, Sanja, Kumararatne, Dinakantha S., Lawrence, Tatiana C., Holm, Are M., Franco, Jose L., Schulze, Ilka, Schneider, Pascal, Gertz, E. Michael, Schäffer, Alejandro A., Hammarström, Lennart, Thrasher, Adrian J., Gaspar, H. Bobby, Grimbacher, Bodo
Published in Blood (26.02.2009)
Published in Blood (26.02.2009)
Get full text
Journal Article
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome
Renner, Ellen D., Rylaarsdam, Stacey, Aňover-Sombke, Stephanie, Rack, Anita L., Reichenbach, Janine, Carey, John C., Zhu, Qili, Jansson, Annette F., Barboza, Julia, Schimke, Lena F., Leppert, Mark F., Getz, Melissa M., Seger, Reinhard A., Hill, Harry R., Belohradsky, Bernd H., Torgerson, Troy R., Ochs, Hans D.
Published in Journal of allergy and clinical immunology (01.07.2008)
Published in Journal of allergy and clinical immunology (01.07.2008)
Get full text
Journal Article
STAT3 Mutation in the Original Patient with Job's Syndrome
Renner, Ellen D, Torgerson, Troy R, Rylaarsdam, Stacey, Añover-Sombke, Stephanie, Golob, Karin, LaFlam, Taylor, Zhu, Qili, Ochs, Hans D
Published in The New England journal of medicine (18.10.2007)
Published in The New England journal of medicine (18.10.2007)
Get full text
Journal Article
FOXP3 Inhibits Activation-Induced NFAT2 Expression in T Cells Thereby Limiting Effector Cytokine Expression
Torgerson, Troy R, Genin, Anna, Chen, Chunxia, Zhang, Mingce, Zhou, Bin, Anover-Sombke, Stephanie, Frank, M. Barton, Dozmorov, Igor, Ocheltree, Elizabeth, Kulmala, Petri, Centola, Michael, Ochs, Hans D, Wells, Andrew D, Cron, Randy Q
Published in The Journal of immunology (1950) (15.07.2009)
Published in The Journal of immunology (1950) (15.07.2009)
Get full text
Journal Article
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome
Renner, Ellen D, Rylaarsdam, Stacey, Anover-Sombke, Stephanie, Rack, Anita L, Reichenbach, Janine, Carey, John C, Zhu, Qili, Jansson, Annette F, Barboza, Julia, Schimke, Lena F, Leppert, Mark F, Getz, Melissa M, Seger, Reinhard A, Hill, Harry R, Belohradsky, Bernd H, Torgerson, Troy R, Ochs, Hans D
Published in Journal of allergy and clinical immunology (01.07.2008)
Published in Journal of allergy and clinical immunology (01.07.2008)
Get full text
Journal Article
FOXP3 exon 2 controls T reg stability and autoimmunity
Du, Jianguang, Wang, Qun, Yang, Shuangshuang, Chen, Si, Fu, Yongyao, Spath, Sabine, Domeier, Phillip, Hagin, David, Anover-Sombke, Stephanie, Haouili, Maya, Liu, Sheng, Wan, Jun, Han, Lei, Liu, Juli, Yang, Lei, Sangani, Neel, Li, Yujing, Lu, Xiongbin, Janga, Sarath Chandra, Kaplan, Mark H, Torgerson, Troy R, Ziegler, Steven F, Zhou, Baohua
Published in Science immunology (24.06.2022)
Published in Science immunology (24.06.2022)
Get more information
Journal Article
Atypical presentation of IL-12 receptor β1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents
Gruenberg, David A., MD, Añover-Sombke, Stephanie, BS, Gern, James E., MD, Holland, Steven M., MD, Rosenzweig, Sergio D., MD, PhD, Torgerson, Troy R., MD, PhD, Seroogy, Christine M., MD
Published in Journal of allergy and clinical immunology (2010)
Published in Journal of allergy and clinical immunology (2010)
Get full text
Journal Article
Abstract 5331: Spatial resolution of immune cell lineages in the tumor microenvironment of plasma cell dyscrasias
Dillon, Medbh A., Arvidson, Lisa, Phalen, Cole G., Ishibashi, Julian R., Johanneson, John B., Thomson, Zachary J., Zhao, Peiyao A., Malone, Jocelin, Kopp, Mackenzie S., Norton, Matthew, Spang, Gabriella, Ludmann, Susan A., Savage, Adam K., Gustafson, Claire E., Glass, Marla, Kuan, Emma L., Peng, Tao, Graybuck, Lucas T., Li, Xiao-jun, Torgerson, Troy R., Skene, Peter J., Goldrath, Ananda W., Jensen, Samuel, Anover-Sombke, Stephanie, Angus-Hill, Melinda L.
Published in Cancer research (Chicago, Ill.) (22.03.2024)
Published in Cancer research (Chicago, Ill.) (22.03.2024)
Get full text
Journal Article
A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy
Schimke, Lena F., Rieber, Nikolaus, Rylaarsdam, Stacey, Cabral-Marques, Otávio, Hubbard, Nicholas, Puel, Anne, Kallmann, Laura, Sombke, Stephanie Anover, Notheis, Gundula, Schwarz, Hans-Peter, Kammer, Birgit, Hökfelt, Tomas, Repp, Reinald, Picard, Capucine, Casanova, Jean-Laurent, Belohradsky, Bernd H., Albert, Michael H., Ochs, Hans D., Renner, Ellen D., Torgerson, Troy R.
Published in Journal of clinical immunology (01.08.2013)
Published in Journal of clinical immunology (01.08.2013)
Get full text
Journal Article
Atypical presentation of IL-12 receptor beta 1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents
Gruenberg, David A, Anover-Sombke, Stephanie, Gern, James E, Holland, Steven M, Rosenzweig, Sergio D, Torgerson, Troy R, Seroogy, Christine M
Published in Journal of allergy and clinical immunology (01.01.2010)
Published in Journal of allergy and clinical immunology (01.01.2010)
Get full text
Journal Article
F.89. Rapid Suppression of Activation Markers and Cytokine Secretion in Human CD4+CD25- T Cells by Cord Blood Derived CD4+CD25+FOXP3+ T Regulatory Cells
Jiang, Liping, Anover-Sombke, Stephanie, Ochs, Hans, Torgerson, Troy
Published in Clinical immunology (Orlando, Fla.) (2008)
Published in Clinical immunology (Orlando, Fla.) (2008)
Get full text
Journal Article
OR.5. The Naturally Occurring Splice Variant of FOXP3 Lacking Exon 2 is not Sufficient to Maintain Immune Homeostasis and Prevent IPEX in vivo in Humans
Anover-Sombke, Stephanie, Hackett, Mary, Ochs, Hans, Gambineri, Eleonora, Torgerson, Troy
Published in Clinical immunology (Orlando, Fla.) (2009)
Published in Clinical immunology (Orlando, Fla.) (2009)
Get full text
Journal Article
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-lgE syndrome
RENNER, Ellen D, RYLAARSDAM, Stacey, LEPPERT, Mark F, GETZ, Melissa M, SEGER, Reinhard A, HILL, Harry R, BELOHRADSKY, Bernd H, TORGERSON, Troy R, OCHS, Hans D, ANOVER-SOMBKE, Stephanie, RACK, Anita L, REICHENBACH, Janine, CAREY, John C, QILI ZHU, JANSSON, Annette F, BARBOZA, Julia, SCHIMKE, Lena F
Published in Journal of allergy and clinical immunology (2008)
Get full text
Published in Journal of allergy and clinical immunology (2008)
Journal Article
Atypical presentation of IL-12 receptor [beta]1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents
Gruenberg, David A, Añover-Sombke, Stephanie, Gern, James E, Holland, Steven M, Rosenzweig, Sergio D, Torgerson, Troy R, Seroogy, Christine M
Published in Journal of allergy and clinical immunology (01.01.2010)
Published in Journal of allergy and clinical immunology (01.01.2010)
Get full text
Journal Article
Letter to the Editor
Gruenberg, David A., Añover-Sombke, Stephanie, Gern, James E., Holland, Steven M., Rosenzweig, Sergio D., Torgerson, Troy R., Seroogy, Christine M.
Published in Journal of allergy and clinical immunology (11.11.2009)
Published in Journal of allergy and clinical immunology (11.11.2009)
Get full text
Journal Article
Novel STAT3 mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in Hyper-IgE syndrome
Renner, Ellen D, Rylaarsdam, Stacey, Aňover-Sombke, Stephanie, Rack, Anita L, Reichenbach, Janine, Carey, John C., Zhu, Qili, Jansson, Annette F, Barboza, Julia, Schimke, Lena F, Leppert, Mark F., Getz, Melissa M., Seger, Reinhard A, Hill, Harry R, Belohradsky, Bernd H, Torgerson, Troy R, Ochs, Hans D
Published in Journal of allergy and clinical immunology (01.07.2008)
Published in Journal of allergy and clinical immunology (01.07.2008)
Get full text
Journal Article
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH 17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome
Renner, Ellen D., MD, Rylaarsdam, Stacey, AAAS, Aňover-Sombke, Stephanie, BS, Rack, Anita L., MD, Reichenbach, Janine, MD, Carey, John C., MD, Zhu, Qili, MD, Jansson, Annette F., MD, Barboza, Julia, PhD, Schimke, Lena F, Leppert, Mark F., MD, Getz, Melissa M., PhD, Seger, Reinhard A., MD, Hill, Harry R., MD, Belohradsky, Bernd H., MD, Torgerson, Troy R., MD, PhD, Ochs, Hans D., MD
Published in Journal of allergy and clinical immunology (2008)
Published in Journal of allergy and clinical immunology (2008)
Get full text
Journal Article
Atypical presentation of IL-12 receptor beta1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents
Gruenberg, David A, Añover-Sombke, Stephanie, Gern, James E, Holland, Steven M, Rosenzweig, Sergio D, Torgerson, Troy R, Seroogy, Christine M
Published in Journal of allergy and clinical immunology (01.01.2010)
Get full text
Published in Journal of allergy and clinical immunology (01.01.2010)
Journal Article