Search Results - "O’Brien, Sandra Anaya"

Gastrointestinal Involvement in Chronic Granulomatous Disease by Marciano, Beatriz E, Rosenzweig, Sergio D, Kleiner, David E, Anderson, Victoria L, Darnell, Dirk N, Anaya-O'Brien, Sandra, Hilligoss, Dianne M, Malech, Harry L, Gallin, John I, Holland, Steven M

“…Chronic granulomatous disease (CGD) is a rare disorder of phagocyte oxidative metabolism. In addition to infectious complications, granulomatous lesions often…”
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Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency by De Ravin, Suk See, Wu, Xiaolin, Moir, Susan, Anaya-O'Brien, Sandra, Kwatemaa, Nana, Littel, Patricia, Theobald, Narda, Choi, Uimook, Su, Ling, Marquesen, Martha, Hilligoss, Dianne, Lee, Janet, Buckner, Clarissa M, Zarember, Kol A, O'Connor, Geraldine, McVicar, Daniel, Kuhns, Douglas, Throm, Robert E, Zhou, Sheng, Notarangelo, Luigi D, Hanson, I Celine, Cowan, Mort J, Kang, Elizabeth, Hadigan, Coleen, Meagher, Michael, Gray, John T, Sorrentino, Brian P, Malech, Harry L, Kardava, Lela

“…X-linked severe combined immunodeficiency (SCID-X1) is a profound deficiency of T, B, and natural killer (NK) cell immunity caused by mutations inIL2RGencoding…”
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Lentivector cryptic splicing mediates increase in CD34+ clones expressing truncated HMGA2 in human X-linked severe combined immunodeficiency by De Ravin, Suk See, Liu, Siyuan, Sweeney, Colin L., Brault, Julie, Whiting-Theobald, Narda, Ma, Michelle, Liu, Taylor, Choi, Uimook, Lee, Janet, O’Brien, Sandra Anaya, Quackenbush, Priscilla, Estwick, Tyra, Karra, Anita, Docking, Ethan, Kwatemaa, Nana, Guo, Shuang, Su, Ling, Sun, Zhonghe, Zhou, Sheng, Puck, Jennifer, Cowan, Morton J., Notarangelo, Luigi D., Kang, Elizabeth, Malech, Harry L., Wu, Xiaolin

“…X-linked Severe Combined Immunodeficiency (SCID-X1) due to IL2RG mutations is potentially fatal in infancy where ‘emergency’ life-saving stem cell transplant…”
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WHIM Syndrome Caused by Waldenström's Macroglobulinemia-Associated Mutation CXCR4 (L329fs) by Liu, Qian, Pan, Catherina, Lopez, Lizbeeth, Gao, Jiliang, Velez, Daniel, Anaya-O'Brien, Sandra, Ulrick, Jean, Littel, Patricia, Corns, John S, Ellenburg, Donald T, Malech, Harry L, Murphy, Philip M, McDermott, David H

“…WHIM syndrome is an autosomal dominant immunodeficiency disease caused by mutations affecting the carboxy-terminus of CXCR4. To characterize novel genetic…”
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The Use of Radiolabelled 18-F-2-Deoxy-2-Fluro-Glucose (18-FDG) in Combined Positron Emission Tomography-Computed Tomography (PET-CT) to Evaluate Infection: Lessons Learned from a Case Series of 23 Patients with Chronic Granulomatous Disease (CGD) by Rudman Spergel, Amanda K., MD, Chen, Clara C., MD, Beegle, Cheryl Ann, JD, CRA, Littel, Patricia, RN, BSN, Garofalo, Mary, RN, BSN, Anaya-O'Brien, Sandra, RN, MSN, Marquesen, Martha, CRNP, Bagci, Ulas, PhD, Mollura, Daniel J., MD, Gallin, John I., MD, Malech, Harry L., MD

“…[...]CGD lymphadenopathy observed by CT, but unrelated to infection, lack intense 18-FDG uptake…”
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Treatment of Infections in Patients with X-Linked Chronic Granulomatous Disease (XCGD) with Gene Therapy by Kang, Elizabeth M., Linton, Gilda, Theobald, Narda, O'Brien, Sandra Anaya, Hilligoss, Dianne, Malech, Harry L.

“…CGD is a monogenetic disorder that results in significant morbidity and mortality and is therefore a good candidate for gene therapy techniques. Genetic…”
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AMD3100 is a potent antagonist at CXCR4R334X, a hyperfunctional mutant chemokine receptor and cause of WHIM syndrome by McDermott, David H., Lopez, Joseph, Deng, Francis, Liu, Qian, Ojode, Teresa, Chen, Haoqian, Ulrick, Jean, Kwatemaa, Nana, Kelly, Corin, Anaya‐O’Brien, Sandra, Garofalo, Mary, Marquesen, Martha, Hilligoss, Dianne, DeCastro, Rosamma, Malech, Harry L., Murphy, Philip M.

“…WHIM is an acronym for a rare immunodeficiency syndrome (OMIM #193670) caused by autosomal dominant mutations truncating the C‐terminus of the chemokine…”
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A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor by McDermott, David H., Liu, Qian, Velez, Daniel, Lopez, Lizbeeth, Anaya-O'Brien, Sandra, Ulrick, Jean, Kwatemaa, Nana, Starling, Judy, Fleisher, Thomas A., Priel, Debra A. Long, Merideth, Melissa A., Giuntoli, Robert L., Evbuomwan, Moses O., Littel, Patricia, Marquesen, Martha M., Hilligoss, Dianne, DeCastro, Rosamma, Grimes, George J., Hwang, Samuel T., Pittaluga, Stefania, Calvo, Katherine R., Stratton, Pamela, Cowen, Edward W., Kuhns, Douglas B., Malech, Harry L., Murphy, Philip M.

“…Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare immunodeficiency disorder caused by gain-of-function mutations in the G…”
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CXCR4/IgG-expressing plasma cells are associated with human gastrointestinal tissue inflammation by Buckner, Clarisa M., PhD, Moir, Susan, PhD, Kardava, Lela, PhD, Ho, Jason, PhD, Santich, Brian H., BA, Kim, Leo Jin Young, BA, Funk, Emily K., BA, Nelson, Amy K., BSN, Winckler, Britanny, BA, Chairez, Cheryl L., BSN, Theobald-Whiting, Narda L., BS, Anaya-O’Brien, Sandra, MSN, Alimchandani, Meghna, MD, Quezado, Martha M., MD, Yao, Michael D., MD, Kovacs, Joseph A., MD, Chun, Tae-Wook, PhD, Fauci, Anthony S., MD, Malech, Harry L., MD, De Ravin, Suk See, MD, PhD

“…Background We previously reported abnormalities in circulating B cells in patients with chronic granulomatous disease (CGD) and those with HIV infection…”
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Pulmonary Nontuberculous Mycobacterial Disease: Prospective Study of a Distinct Preexisting Syndrome by Kim, Richard D, Greenberg, David E, Ehrmantraut, Mary E, Guide, Shireen V, Ding, Li, Shea, Yvonne, Brown, Margaret R, Chernick, Milica, Steagall, Wendy K, Glasgow, Connie G, Lin, JingPing, Jolley, Clara, Sorbara, Lynn, Raffeld, Mark, Hill, Suvimol, Avila, Nilo, Sachdev, Vandana, Barnhart, Lisa A, Anderson, Victoria L, Claypool, Reginald, Hilligoss, Dianne M, Garofalo, Mary, Fitzgerald, Alan, Anaya-O'Brien, Sandra, Darnell, Dirk, DeCastro, Rosamma, Menning, Heather M, Ricklefs, Stacy M, Porcella, Stephen F, Olivier, Kenneth N, Moss, Joel, Holland, Steven M

“…Pulmonary nontuberculous mycobacterial (PNTM) disease is increasing, but predisposing features have been elusive. To prospectively determine the morphotype,…”
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The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome by McDermott, David H., Liu, Qian, Ulrick, Jean, Kwatemaa, Nana, Anaya-O'Brien, Sandra, Penzak, Scott R., Filho, Joao Oliveira, Priel, Debra A. Long, Kelly, Corin, Garofalo, Mary, Littel, Patricia, Marquesen, Martha M., Hilligoss, Diane, DeCastro, Rosamma, Fleisher, Thomas A., Kuhns, Douglas B., Malech, Harry L., Murphy, Philip M.

“…WHIM syndrome is a rare congenital immunodeficiency disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexis (neutropenia because…”
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Enhanced Transduction Lentivector Gene Therapy for Treatment of Older Patients with X-Linked Severe Combined Immunodeficiency by De Ravin, Suk See, Anaya O'Brien, Sandra, Kwatemaa, Nana, Theobald, Narda, Liu, Siyuan, Lee, Janet, Kardava, Lela, Liu, Taylor, Goldman, Frederick, Moir, Susan, Bleesing, Jack, Neven, Benedicte, Puck, Jennifer, Cowan, Morton J, Mamcarz, Ewelina, Gottschalk, Stephen, Meagher, Michael M, Notarangelo, Luigi, Kang, Elizabeth, Wu, Xiaolin, Malech, Harry L.

“…Lentivector mediated gene transfer into hematopoietic stem/progenitor cells and T cells has resulted in long-term stable integration of transgenes and…”
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WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4 by Liu, Qian, Chen, Haoqian, Ojode, Teresa, Gao, Xiangxi, Anaya-O'Brien, Sandra, Turner, Nicholas A., Ulrick, Jean, DeCastro, Rosamma, Kelly, Corin, Cardones, Adela R., Gold, Stuart H., Hwang, Eugene I., Wechsler, Daniel S., Malech, Harry L., Murphy, Philip M., McDermott, David H.

“…WHIM syndrome is a rare, autosomal dominant, immunodeficiency disorder so-named because it is characterized by warts, hypogammaglobulinemia, infections, and…”
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AMD3100 is a potent antagonist at CXCR4(R334X) , a hyperfunctional mutant chemokine receptor and cause of WHIM syndrome by McDermott, David H, Lopez, Joseph, Deng, Francis, Liu, Qian, Ojode, Teresa, Chen, Haoqian, Ulrick, Jean, Kwatemaa, Nana, Kelly, Corin, Anaya-O'Brien, Sandra, Garofalo, Mary, Marquesen, Martha, Hilligoss, Dianne, DeCastro, Rosamma, Malech, Harry L, Murphy, Philip M

“…WHIM is an acronym for a rare immunodeficiency syndrome (OMIM #193670) caused by autosomal dominant mutations truncating the C-terminus of the chemokine…”
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WHIM Syndrome Caused by Waldenstrom's Macroglobulinemia-Associated Mutation CXCR4 super( )L329fs by Liu, Qian, Pan, Catherina, Lopez, Lizbeeth, Gao, Jiliang, Velez, Daniel, Anaya-O'Brien, Sandra, Ulrick, Jean, Littel, Patricia, Corns, John S, Ellenburg, Donald T, Malech, Harry L, Murphy, Philip M, McDermott, David H

“…WHIM syndrome is an autosomal dominant immunodeficiency disease caused by mutations affecting the carboxy-terminus of CXCR4. To characterize novel genetic…”
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WHIM Syndrome Caused by Waldenström's Macroglobulinemia-Associated Mutation CXCR4 ^sup L329fs by Liu, Qian, Pan, Catherina, Lopez, Lizbeeth, Gao, Jiliang, Velez, Daniel, Anaya-o'brien, Sandra, Ulrick, Jean, Littel, Patricia, Corns, John S, Ellenburg, Donald T, Malech, Harry L, Murphy, Philip M, Mcdermott, David H

“…WHIM syndrome is an autosomal dominant immunodeficiency disease caused by mutations affecting the carboxy-terminus of CXCR4. To characterize novel genetic…”
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CXCR4/lgG-expressing plasma cells are associated with human gastrointestinal tissue inflammation by BUCKNER, Clarisa M, MOIR, Susan, THEOBALD-WHITING, Narda L, ANAYA-O'BRIEN, Sandra, ALIMCHANDANI, Meghna, QUEZADO, Martha M, YAO, Michael D, KOVACS, Joseph A, CHUN, Tae-Wook, FAUCI, Anthony S, MALECH, Harry L, DE RAVIN, Suk See, KARDAVA, Lela, HO, Jason, SANTICH, Brian H, LEO JIN YOUNG KIM, FUNK, Emily K, NELSON, Amy K, WINCKLER, Britanny, CHAIREZ, Cheryl L

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Treatment of infections in patients with X-linked chronic granulomatous disease (CGD) with gene therapy by Kang, Elizabeth M., Linton, Gilda, Theobald, Narda, Anaya O'Brien, Sandra, Hilligoss, Dianne, Malech, Harry L.

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Update on gene therapy for Chronic Granulomatous Disease: Current studies and future approaches by Malech, Harry L., Linton, Gilda F., Whiting-Theobald, Narda, Naumann, Nora, De Ravin, Suk See, Choi, Uimook, Moayeri, Morvarid, O'Brien, Sandra Anaya, Hilligoss, Dianne, Ikeda, Yasuhiro, Kang, Elizabeth M.

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Anti-tumor Necrosis Factor Alpha Therapy for the Treatment of Chronic Granulomatous Disease-Related Colitis: 1740 by Simcox, Thomas, Yao, Michael, Anaya-OʼBrien, Sandra, Fuss, Ivan, Malech, Harry, DeRavin, Suk See

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