Search Results - "Sombke, Stephanie Anover"

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome by 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

“…Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome is a rare recessive disorder caused by mutations in the gene. In addition,…”
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Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes by 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

“…TNFRSF13B encodes transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI), a B cell– specific tumor necrosis factor (TNF)…”
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Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome by 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.

“…Hyper-IgE syndrome (HIES) is a rare, autosomal-dominant immunodeficiency characterized by eczema, Staphylococcus aureus skin abscesses, pneumonia with…”
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STAT3 Mutation in the Original Patient with Job's Syndrome by Renner, Ellen D, Torgerson, Troy R, Rylaarsdam, Stacey, Añover-Sombke, Stephanie, Golob, Karin, LaFlam, Taylor, Zhu, Qili, Ochs, Hans D

“…To the Editor: In 1966, a report on two unrelated young girls who had had recurrent staphylococcal abscesses since infancy was introduced with the biblical…”
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FOXP3 Inhibits Activation-Induced NFAT2 Expression in T Cells Thereby Limiting Effector Cytokine Expression by 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

“…The forkhead DNA-binding protein FOXP3 is critical for the development and suppressive function of CD4(+)CD25(+) regulatory T cells (T(REG)), which play a key…”
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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 by 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

“…Hyper-IgE syndrome (HIES) is a rare, autosomal-dominant immunodeficiency characterized by eczema, Staphylococcus aureus skin abscesses, pneumonia with…”
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FOXP3 exon 2 controls T reg stability and autoimmunity by 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

“…Differing from the mouse gene that encodes only one protein product, human encodes two major isoforms through alternative splicing-a longer isoform (FOXP3 FL)…”
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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 by 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

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Abstract 5331: Spatial resolution of immune cell lineages in the tumor microenvironment of plasma cell dyscrasias by 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.

“…Abstract Plasma cell dyscrasias (PCDs) are diseases of the hematologic system, with Multiple Myeloma as the most common disease. Less common PCDs include…”
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A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy by 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.

“…Purpose This study reports the identification of a novel heterozygous IKBA missense mutation (p.M37K) in a boy presenting with ectodermal dysplasia with…”
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F.90. Evaluation of Signaling Events in 2 Related X-SCID Patients with the Same Hypomorphic IL2RG Mutation but Different Clinical Phenotypes by Anover-Sombke, Stephanie, Ochs, Hans, Torgerson, Troy

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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 by Gruenberg, David A, Anover-Sombke, Stephanie, Gern, James E, Holland, Steven M, Rosenzweig, Sergio D, Torgerson, Troy R, Seroogy, Christine M

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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 by Jiang, Liping, Anover-Sombke, Stephanie, Ochs, Hans, Torgerson, Troy

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S2012 Novel Mutations and Clinical Features in Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome by Knight, Crystal, Gambineri, Eleonora, Hackett, Mary J, Anover-Sombke, Stephanie, Ochs, Hans D, Torgerson, Troy R

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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 by Anover-Sombke, Stephanie, Hackett, Mary, Ochs, Hans, Gambineri, Eleonora, Torgerson, Troy

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Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-lgE syndrome by 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

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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 by Gruenberg, David A, Añover-Sombke, Stephanie, Gern, James E, Holland, Steven M, Rosenzweig, Sergio D, Torgerson, Troy R, Seroogy, Christine M

“…Flow cytometry for activation-induced phosphorylation of signal transducer and activator of transcription (STAT)1 and STAT4 in PBMCs provided a rapid…”
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Letter to the Editor by Gruenberg, David A., Añover-Sombke, Stephanie, Gern, James E., Holland, Steven M., Rosenzweig, Sergio D., Torgerson, Troy R., Seroogy, Christine M.

“…Atypical presentation of IL-12 receptor β1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl…”
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Novel STAT3 mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in Hyper-IgE syndrome by 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

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Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH 17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome by 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

“…Background Hyper-IgE syndrome (HIES) is a rare, autosomal-dominant immunodeficiency characterized by eczema, Staphylococcus aureus skin abscesses, pneumonia…”
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