Failure to Prevent Severe Graft-Versus-Host Disease in Haploidentical Hematopoietic Cell Transplantation with Post-Transplant Cyclophosphamide in Chronic Granulomatous Disease

Authors: Parta, Mark, Hilligoss, Dianne, Kelly, Corin, Kwatemaa, Nana, Theobald, Narda, Zerbe, Christa S., Holland, Steven M., Malech, Harry L., Kang, Elizabeth M.

Source: Journal of clinical immunology. 40(4):619-624

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171472232.0x000001&indx=1&recIds=ETOCvdc_100171472232.0x000001

Chromothriptic Cure of WHIM Syndrome

Authors: McDermott, David H., Gao, Ji-Liang, Liu, Qian, Siwicki, Marie, Martens, Craig, Jacobs, Paejonette, Velez, Daniel, Yim, Erin, Bryke, Christine R., Hsu, Nancy, Dai, Zunyan, Marquesen, Martha M., Stregevsky, Elina, Kwatemaa, Nana, Theobald, Narda, Long Priel, Debra A., Pittaluga, Stefania, Raffeld, Mark A., Calvo, Katherine R., Maric, Irina, Desmond, Ronan, Holmes, Kevin L., Kuhns, Douglas B., Balabanian, Karl, Bachelerie, Françoise, Porcella, Stephen F., Malech, Harry L., Murphy, Philip M.

Source: In Cell 12 February 2015 160(4):686-699

A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor

Authors: 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.

Source: In Blood 10 April 2014 123(15):2308-2316

The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome

Authors: 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.

Source: In Blood 3 November 2011 118(18):4957-4962

Lentivector cryptic splicing mediates increase in CD34+ clones expressing truncated HMGA2 in human X-linked severe combined immunodeficiency.

Authors: 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

Source: Nature Communications; 6/28/2022, Vol. 13 Issue 1, p1-15, 15p

Subject Terms: SEVERE combined immunodeficiency, RNA splicing, CD34 antigen, HEMATOPOIETIC stem cells, STEM cell transplantation, ALTERNATIVE RNA splicing, MESSENGER RNA

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Enhanced Transduction Lentivector Gene Therapy for Treatment of Older Patients with X-Linked Severe Combined Immunodeficiency

Authors: 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.

Source: In Blood 13 November 2019 134 Supplement 1:608-608

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Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency.

Authors: Suk See De Ravin, Xiaolin Wu, Moir, Susan, Kardava, Lela, Anaya-O’Brien, Sandra, Kwatemaa, Nana, Littel, Patricia, Theobald, Narda, Uimook Choi, Ling Su, Marquesen, Martha, Hilligoss, Dianne, Lee, Janet, Buckner, Clarissa M., Zarember, Kol A., O’Connor, Geraldine, McVicar, Daniel, Kuhns, Douglas, Throm, Robert E., Sheng Zhou

Source: Science Translational Medicine; 4/20/2016, Vol. 8 Issue 335, p1-11, 11p, 1 Color Photograph, 5 Graphs

Subject Terms: GENE therapy, HEMATOPOIETIC stem cells, SEVERE combined immunodeficiency, HEMATOPOIETIC stem cell transplantation, IMMUNE system

WHIM Syndrome Cured by Chromothripsis

Authors: Bryke, Christine R., McDermott, David H., Gao, Ji-Liang, Liu, Qian, Siwicki, Marie, Martens, Craig, Jacobs, Paejonette, Velez, Daniel, Yim, Erin, Hsu, Nancy, Dai, Zunyan, Marquesen, Martha M., Stregevsky, Elina, Kwatemaa, Nana, Theobald, Narda, Long Priel, Debra A., Pittaluga, Stefania, Raffeld, Mark A., Calvo, Katherine R., Maric, Irina, Desmond, Ronan, Holmes, Kevin L., Kuhns, Douglas B., Balabanian, Karl, Bachelerie, Françoise, Porcella, Stephen F., Malech, Harry L., Murphy, Philip M.

Source: In Cancer Genetics June 2015 208(6):358-359

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AMD3100 is a potent antagonist at CXCR4^R334X, a hyperfunctional mutant chemokine receptor and cause of WHIM syndrome.

Authors: 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.

Source: Journal of Cellular & Molecular Medicine; Oct2011, Vol. 15 Issue 10, p2071-2081, 11p

Subject Terms: CHEMOKINES, IMMUNOLOGICAL deficiency syndromes, CELL receptors, HAMSTERS as laboratory animals, OVARIES, LEUKOCYTES, CELLULAR signal transduction

Geographic Terms: UNITED States

Company/Entity: UNITED States. Food & Drug Administration