Search Results - "Kuhns, B."

Peritoneal tissue-resident macrophages are metabolically poised to engage microbes using tissue-niche fuels by Davies, Luke C., Rice, Christopher M., Palmieri, Erika M., Taylor, Philip R., Kuhns, Douglas B., McVicar, Daniel W.

“…The importance of metabolism in macrophage function has been reported, but the in vivo relevance of the in vitro observations is still unclear. Here we show…”
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Lentiviral gene therapy for X-linked chronic granulomatous disease by Kohn, Donald B., Booth, Claire, Kang, Elizabeth M., Pai, Sung-Yun, Shaw, Kit L., Santilli, Giorgia, Armant, Myriam, Buckland, Karen F., Choi, Uimook, De Ravin, Suk See, Dorsey, Morna J., Kuo, Caroline Y., Leon-Rico, Diego, Rivat, Christine, Izotova, Natalia, Gilmour, Kimberly, Snell, Katie, Dip, Jinhua Xu-Bayford, Darwish, Jinan, Morris, Emma C., Terrazas, Dayna, Wang, Leo D., Bauser, Christopher A., Paprotka, Tobias, Kuhns, Douglas B., Gregg, John, Raymond, Hayley E., Everett, John K., Honnet, Geraldine, Biasco, Luca, Newburger, Peter E., Bushman, Frederic D., Grez, Manuel, Gaspar, H. Bobby, Williams, David A., Malech, Harry L., Galy, Anne, Thrasher, Adrian J.

“…Chronic granulomatous disease (CGD) is a rare inherited disorder of phagocytic cells 1 , 2 . We report the initial results of nine severely affected X-linked…”
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X-linked Carriers of Chronic Granulomatous Disease: Illness, Lyonization and Stability by Marciano, Beatriz E., MD, Zerbe, Christa S., MD, Falcone, E. Liana, MD PhD, Ding, Li, MD, DeRavin, Suk See, MD PhD, Daub, Janine, CRNP, Kreuzburg, Samantha, CRNP, Yockey, Lynne, CRNP, Hunsberger, Sally, PHD, Foruraghi, Ladan, CRNP, Barnhart, Lisa A., CRNP, Matharu, Kabir, MD, Anderson, Victoria, CRNP, Darnell, Dirk N., CRNP, Frein, Cathleen, CRNP, Fink, Danielle L., MS, Lau, Karen P., MS, Long Priel, Debra A., MS, Gallin, John I., MD, Malech, Harry L., MD, Uzel, Gulbu, MD, Freeman, Alexandra F., MD, Kuhns, Douglas B., PhD, Rosenzweig, Sergio D., MD PhD, Holland, Steven M., MD

“…Abstract Background Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant…”
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Common Severe Infections in Chronic Granulomatous Disease by Marciano, Beatriz E., Spalding, Christine, Fitzgerald, Alan, Mann, Daphne, Brown, Thomas, Osgood, Sharon, Yockey, Lynne, Darnell, Dirk N., Barnhart, Lisa, Daub, Janine, Boris, Lisa, Rump, Amy P., Anderson, Victoria L., Haney, Carissa, Kuhns, Douglas B., Rosenzweig, Sergio D., Kelly, Corin, Zelazny, Adrian, Mason, Tamika, See DeRavin, Suk, Kang, Elizabeth, Gallin, John I., Malech, Harry L., Olivier, Kenneth N., Uzel, Gulbu, Freeman, Alexandra F., Heller, Theo, Zerbe, Christa S., Holland, Steven M.

“…Background. Chronic granulomatous disease (CGD) is due to defective nicotinamide adenine dinucleotide phosphate oxidase activity and characterized by recurrent…”
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A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency by Zhou, Qing, Lee, Geun-Shik, Brady, Jillian, Datta, Shrimati, Katan, Matilda, Sheikh, Afzal, Martins, Marta S, Bunney, Tom D, Santich, Brian H, Moir, Susan, Kuhns, Douglas B, Long Priel, Debra A, Ombrello, Amanda, Stone, Deborah, Ombrello, Michael J, Khan, Javed, Milner, Joshua D, Kastner, Daniel L, Aksentijevich, Ivona

“…Whole-exome sequencing was performed in a family affected by dominantly inherited inflammatory disease characterized by recurrent blistering skin lesions,…”
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Isolation and Functional Analysis of Human Neutrophils by Kuhns, Douglas B, Priel, Debra A Long, Chu, Jessica, Zarember, Kol A

“…This unit describes the isolation of human polymorphonuclear neutrophils (PMN) from blood using dextran sedimentation and Percoll or Ficoll-Paque density…”
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Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology by Takeda, Andrew J., Maher, Timothy J., Zhang, Yu, Lanahan, Stephen M., Bucklin, Molly L., Compton, Susan R., Tyler, Paul M., Comrie, William A., Matsuda, Makoto, Olivier, Kenneth N., Pittaluga, Stefania, McElwee, Joshua J., Long Priel, Debra A., Kuhns, Douglas B., Williams, Roger L., Mustillo, Peter J., Wymann, Matthias P., Koneti Rao, V., Lucas, Carrie L.

“…Phosphatidylinositol 3-kinase-gamma (PI3Kγ) is highly expressed in leukocytes and is an attractive drug target for immune modulation. Different experimental…”
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Chromothriptic Cure of WHIM Syndrome by 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.

“…Chromothripsis is a catastrophic cellular event recently described in cancer in which chromosomes undergo massive deletion and rearrangement. Here, we report a…”
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A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome by McDermott, David H, Velez, Daniel, Cho, Elena, Cowen, Edward W, DiGiovanna, John J, Pastrana, Diana V, Buck, Christopher B, Calvo, Katherine R, Gardner, Pamela J, Rosenzweig, Sergio D, Stratton, Pamela, Merideth, Melissa A, Kim, H Jeffrey, Brewer, Carmen, Katz, James D, Kuhns, Douglas B, Malech, Harry L, Follmann, Dean, Fay, Michael P, Murphy, Philip M

“…BACKGROUNDWarts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a primary immunodeficiency disorder caused by heterozygous…”
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Allogeneic Reduced-Intensity Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: a Single-Center Prospective Trial by Parta, Mark, Kelly, Corin, Kwatemaa, Nana, Theobald, Narda, Hilligoss, Diane, Qin, Jing, Kuhns, Douglas B., Zerbe, Christa, Holland, Steven M., Malech, Harry, Kang, Elizabeth M.

“…Purpose The purpose of this study was to evaluate engraftment and adverse events with a conditioning and prophylactic regimen intended to achieve high rates of…”
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Signal transducer and activator of transcription 1 ( STAT1 ) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis by Sampaio, Elizabeth P., MD, PhD, Hsu, Amy P., BA, Pechacek, Joseph, BA, Bax, Hannelore I., MD, Dias, Dalton L., BA, Paulson, Michelle L., MD, Chandrasekaran, Prabha, PhD, Rosen, Lindsey B., BS, Carvalho, Daniel S., PhD, Ding, Li, MD, Vinh, Donald C., MD, Browne, Sarah K., MD, Datta, Shrimati, PhD, Milner, Joshua D., MD, Kuhns, Douglas B., PhD, Long Priel, Debra A., BS, Sadat, Mohammed A., MD, Shiloh, Michael, MD, PhD, De Marco, Brendan, MD, Alvares, Michael, MD, Gillman, Jason W., MD, Ramarathnam, Vivek, MD, de la Morena, Maite, MD, Bezrodnik, Liliana, MD, Moreira, Ileana, MD, Uzel, Gulbu, MD, Johnson, Daniel, MD, Spalding, Christine, RN, Zerbe, Christa S., MD, Wiley, Henry, MD, Greenberg, David E., MD, Hoover, Susan E., MD, PhD, Rosenzweig, Sergio D., MD, PhD, Galgiani, John N., MD, Holland, Steven M., MD

“…Background Impaired signaling in the IFN-γ/IL-12 pathway causes susceptibility to severe disseminated infections with mycobacteria and dimorphic yeasts…”
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Hematologically important mutations: Leukocyte adhesion deficiency (second update) by Roos, Dirk, van Leeuwen, Karin, Madkaikar, Manisha, Kambli, Priyanka M., Gupta, Maya, Mathews, Vikram, Rawat, Amit, Kuhns, Douglas B., Holland, Steven M., de Boer, Martin, Kanegane, Hirokazu, Parvaneh, Nima, Lorenz, Myriam, Schwarz, Klaus, Klein, Christoph, Sherkat, Roya, Jafari, Mahbube, Wolach, Baruch, den Dunnen, Johan T., Kuijpers, Taco W., Köker, M. Yavuz

“…Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the adhesion of leukocytes (especially neutrophils) to the blood vessel wall…”
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The effects of community policing on fear of crime and perceived safety: findings from a pilot project in Trinidad and Tobago by Maguire, Edward R., Johnson, Devon, Kuhns, Joseph B., Apostolos, Robert

“…Using findings from a quasi-experiment, this study examines whether the implementation of community policing in Gonzales, a distressed Caribbean community,…”
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TNF overproduction impairs epithelial staphylococcal response in hyper IgE syndrome by Myles, Ian A, Anderson, Erik D, Earland, Noah J, Zarember, Kol A, Sastalla, Inka, Williams, Kelli W, Gough, Portia, Moore, Ian N, Ganesan, Sundar, Fowler, Cedar J, Laurence, Arian, Garofalo, Mary, Kuhns, Douglas B, Kieh, Mark D, Saleem, Arhum, Welch, Pamela A, Darnell, Dirk A, Gallin, John I, Freeman, Alexandra F, Holland, Steven M, Datta, Sandip K

“…Autosomal dominant hyper IgE syndrome (AD-HIES), or Job's syndrome, is a primary immune deficiency caused by dominant-negative mutations in STAT3. Recurrent…”
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Abnormal Nasal Nitric Oxide Production, Ciliary Beat Frequency, and Toll-like Receptor Response in Pulmonary Nontuberculous Mycobacterial Disease Epithelium by FOWLER, Cedar J, OLIVIER, Kenneth N, DAUB, Janine, HANEY, Carissa, SHELHAMER, James H, BRYANT, Clare E, HOLLAND, Steven M, LEUNG, Janice M, SMITH, Caroline C, HUTH, Andrea G, ROOT, Heather, KUHNS, Douglas B, LOGUN, Carolea, ZELAZNY, Adrian, FREIN, Cathleen A

“…Pulmonary nontuberculous mycobacterial (PNTM) disease has increased over the past several decades, especially in older women. Despite extensive investigation,…”
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The Changing Paradigm of Management of Liver Abscesses in Chronic Granulomatous Disease by Straughan, David M, McLoughlin, Kaitlin C, Mullinax, John E, Marciano, Beatriz E, Freeman, Alexandra F, Anderson, Victoria L, Uzel, Gulbu, Azoury, Said C, Sorber, Rebecca, Quadri, Humair S, Malech, Harry L, DeRavin, Suk See, Kamal, Natasha, Koh, Christopher, Zerbe, Christa S, Kuhns, Douglas B, Gallin, John I, Heller, Theo, Holland, Steven M, Rudloff, Udo

“…Chronic granulomatous disease (CGD) is a rare genetic disorder causing recurrent infections. More than one-quarter of patients develop hepatic abscesses and…”
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Hematologically important mutations: X-linked chronic granulomatous disease (third update) by Roos, Dirk, Kuhns, Douglas B., Maddalena, Anne, Roesler, Joachim, Lopez, Juan Alvaro, Ariga, Tadashi, Avcin, Tadej, de Boer, Martin, Bustamante, Jacinta, Condino-Neto, Antonio, Di Matteo, Gigliola, He, Jianxin, Hill, Harry R., Holland, Steven M., Kannengiesser, Caroline, Köker, M. Yavuz, Kondratenko, Irina, van Leeuwen, Karin, Malech, Harry L., Marodi, László, Nunoi, Hiroyuki, Stasia, Marie-José, Ventura, Anna Maria, Witwer, Carl T., Wolach, Baruch, Gallin, John I.

“…Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by a lack of superoxide…”
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IKBKG (NEMO) 5′ Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections by Hsu, Amy P, Zerbe, Christa S, Foruraghi, Ladan, Iovine, Nicole M, Leiding, Jennifer W, Mushatt, David M, Wild, Laurianne, Kuhns, Douglas B, Holland, Steven M

“…Abstract Four patients with adult-onset, disseminated mycobacterial infection had 5′ UTR mutations in IKBKG without clear physical stigmata of NEMO deficiency…”
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Hypomorphic Rag mutations can cause destructive midline granulomatous disease by De Ravin, Suk See, Cowen, Edward W., Zarember, Kol A., Whiting-Theobald, Narda L., Kuhns, Douglas B., Sandler, Netanya G., Douek, Daniel C., Pittaluga, Stefania, Poliani, Pietro L., Lee, Yu Nee, Notarangelo, Luigi D., Wang, Lei, Alt, Frederick W., Kang, Elizabeth M., Milner, Joshua D., Niemela, Julie E., Fontana-Penn, Mary, Sinal, Sara H., Malech, Harry L.

“…Destructive midline granulomatous disease characterized by necrotizing granulomas of the head and neck is most commonly caused by Wegener granulomatosis,…”
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Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update) by Roos, Dirk, Kuhns, Douglas B., Maddalena, Anne, Bustamante, Jacinta, Kannengiesser, Caroline, de Boer, Martin, van Leeuwen, Karin, Köker, M. Yavuz, Wolach, Baruch, Roesler, Joachim, Malech, Harry L., Holland, Steven M., Gallin, John I., Stasia, Marie-José

“…Chronic granulomatous Disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by mutations in the genes…”
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