Search Results - "Marciano, Beatriz E."

Risk Factors for Disseminated Coccidioidomycosis, United States by Odio, Camila D, Marciano, Beatriz E, Galgiani, John N, Holland, Steven M

“…Of 150,000 new coccidioidomycosis infections that occur annually in the United States, ≈1% disseminate; one third of those cases are fatal. Immunocompromised…”
Get full text

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…”
Get full text

Primary Immunodeficiency Diseases: Current and Emerging Therapeutics by Marciano, Beatriz E, Holland, Steven M

“…Primary immunodeficiency diseases (PID) result from defects in genes affecting the immune and other systems in many and varied ways (1, 2). Until the last few…”
Get full text

Complications of Tumor Necrosis Factor—α Blockade in Chronic Granulomatous Disease—Related Colitis by Uzel, Gulbu, Orange, Jordan S., Poliak, Nina, Marciano, Beatriz E., Heller, Theo, Holland, Steven M.

“…Background. Chronic granulomatous disease (CGD) is a genetic disorder of the phagocyte NADPH oxidase, which predisposes patients to infections and inflammatory…”
Get full text

Granulocyte transfusions in patients with chronic granulomatous disease and refractory infections: The NIH experience by Marciano, Beatriz E., MD, Allen, Elisabeth S., MD, Conry-Cantilena, Cathy, MD, Kristosturyan, Ervand, MD, Klein, Harvey G., MD, Fleisher, Thomas A., MD, Holland, Steven M., MD, Malech, Harry L., MD, Rosenzweig, Sergio D., MD, PhD

“…To the Editor: Although the efficacy of granulocyte transfusion(s) (GT) has not been definitively proven, they are used as an adjunctive therapy to…”
Get full text

Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature by Zerbe, Christa S., Marciano, Beatriz E., Katial, Rohit K., Santos, Carah B., Adamo, Nick, Hsu, Amy P., Hanks, Mary E., Darnell, Dirk N., Quezado, Martha M., Frein, Cathleen, Barnhart, Lisa A., Anderson, Victoria L., Uzel, Gulbu, Freeman, Alexandra F., Lisco, Andrea, Nath, Avindra, Major, Eugene O., Sampaio, Elizabeth P., Holland, Steven M.

“…Background. Progressive multifocal leukoencephalopathy (PML) is a rare, severe, otherwise fatal viral infection of the white matter of the brain caused by the…”
Get full text

Human papillomavirus disease in GATA2 deficiency: a genetic predisposition to HPV-associated female anogenital malignancy by Dancy, Ehren, Stratton, Pamela, Pichard, Dominique C, Marciano, Beatriz E, Cowen, Edward W, McBride, Alison A, Van Doorslaer, Koenraad, Merideth, Melissa A, Salmeri, Noemi, Hughes, Marybeth S, Heller, Theo, Parta, Mark, Hickstein, Dennis D, Kong, Heidi H, Holland, Steven M, Zerbe, Christa S

“…Patients with pathogenic variants in the GATA Binding Protein 2 ( ), a hematopoietic transcription factor, are at risk for human papillomavirus-related (HPV)…”
Get full text

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…”
Get full text

Impaired efferocytosis in human chronic granulomatous disease is reversed by pioglitazone treatment by Fernandez-Boyanapalli, Ruby F., PhD, Falcone, Emilia Liana, MD, Zerbe, Christa S., MD, Marciano, Beatriz E., MD, Frasch, S. Courtney, PhD, Henson, Peter M., DVD, PhD, Holland, Steven M., MD, Bratton, Donna L., MD

“…Impaired efferocytic capability has been shown for murine CGD macrophages in vitro and in vivo,2,3 as well as human gp91phox-deficient PLB-985 cells, and in 1…”
Get full text

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…”
Get full text

Long-Term Interferon-γ Therapy for Patients with Chronic Granulomatous Disease by Marciano, Beatriz E., Wesley, Robert, De Carlo, Ellen S., Anderson, Victoria L., Barnhart, Lisa A., Darnell, Dirk, Malech, Harry L., Gallin, John I., Holland, Steven M.

“…Background. Chronic granulomatous disease (CGD) is a rare disorder of phagocytes in which absent production of superoxide and hydrogen peroxide in phagocytes…”
Get full text

Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections by SADAT, Mohammed A, MOIR, Susan, YAN HUANG, HUSSEIN, Nadia, NIEVAS, Elma, MITCHELL, Raquel, GAROFALO, Mary, LOUIE, Aaron, IRELAND, Derek C, GRUNES, Claire, CIMBRO, Raffaello, PATEL, Vyomesh, CHUN, Tae-Wook, HOLZAPFEL, Genevieve, SALAHUDDIN, Daniel, BRISTOL, Tyler, ADAMS, David, MARCIANO, Beatriz E, HEGDE, Madhuri, YUXING LI, CALVO, Katherine R, STODDARD, Jennifer, JUSTEMENT, J. Shawn, LUSSO, Paolo, JACQUES, Jerome, PRIEL, Debra A. Long, MURRAY, Danielle, SUN, Peter, KUHNS, Douglas B, BOERKOEL, Cornelius F, CHIORINI, John A, DI PASQUALE, Giovanni, VERTHELYI, Daniela, ROSENZWEIG, Sergio D, KAPLAN, Gerardo, WOLFE, Lynne, MEMOLI, Matthew J, MIAO HE, VEGA, Hugo, KIM, Leo J. Y

Get full text

Residual NADPH Oxidase and Survival in Chronic Granulomatous Disease by Kuhns, Douglas B, Alvord, W. Gregory, Heller, Theo, Feld, Jordan J, Pike, Kristen M, Marciano, Beatriz E, Uzel, Gulbu, DeRavin, Suk See, Priel, Debra A. Long, Soule, Benjamin P, Zarember, Kol A, Malech, Harry L, Holland, Steven M, Gallin, John I

“…Survival in chronic granulomatous disease is related to the level of NADPH oxidase activity, which correlates with the altered site on the mutated gene…”
Get full text

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…”
Get full text

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome by Hsu, Amy P., Sampaio, Elizabeth P., Khan, Javed, Calvo, Katherine R., Lemieux, Jacob E., Patel, Smita Y., Frucht, David M., Vinh, Donald C., Auth, Roger D., Freeman, Alexandra F., Olivier, Kenneth N., Uzel, Gulbu, Zerbe, Christa S., Spalding, Christine, Pittaluga, Stefania, Raffeld, Mark, Kuhns, Douglas B., Ding, Li, Paulson, Michelle L., Marciano, Beatriz E., Gea-Banacloche, Juan C., Orange, Jordan S., Cuellar-Rodriguez, Jennifer, Hickstein, Dennis D., Holland, Steven M.

“…The syndrome of monocytopenia, B-cell and NK-cell lymphopenia, and mycobacterial, fungal, and viral infections is associated with myelodysplasia, cytogenetic…”
Get full text

Safety and Efficacy of Ustekinumab in the Inflammatory Bowel Disease of Chronic Granulomatous Disease by Bhattacharya, Sumona, Marciano, Beatriz E., Malech, Harry L., Quezado, Martha, Holland, Steven M., De Ravin, Suk See, Zerbe, Christa S., Heller, Theo

“…Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by mutations encoding the NADPH oxidase complex.1 Those affected are at increased…”
Get full text

Pulmonary Manifestations of GATA2 Deficiency by Marciano, Beatriz E., Olivier, Kenneth N., Folio, Les R., Zerbe, Christa S., Hsu, Amy P., Freeman, Alexandra F., Filie, Armando C., Spinner, Michael A., Sanchez, Lauren A., Lovell, Jana P., Parta, Mark, Cuellar-Rodriguez, Jennifer M., Hickstein, Dennis D., Holland, Steven M.

“…GATA2 deficiency is a genetic disorder of hematopoiesis, lymphatics, and immunity caused by autosomal dominant or sporadic mutations in GATA2. The disease has…”
Get full text

Anti–Interleukin-23 Autoantibodies in Adult-Onset Immunodeficiency by Cheng, Aristine, Kashyap, Anuj, Salvator, Helene, Rosen, Lindsey B., Colby, Devon, Ardeshir-Larijani, Fatemeh, Loehrer, Patrick J., Ding, Li, Lugo Reyes, Saul O., Riminton, Sean, Ballman, Madison, Rocco, Joseph M., Marciano, Beatriz E., Freeman, Alexandra F., Browne, Sarah K., Hsu, Amy P., Zelazny, Adrian, Rajan, Arun, Sereti, Irini, Zerbe, Christa S., Lionakis, Michail S., Holland, Steven M.

“…Investigators identified autoantibodies against interleukin-23 (with or without anti–interleukin-12) in patients with a variety of opportunistic infections,…”
Get full text

Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study by Ozen, Ahmet, Chongsrisawat, Voranush, Sefer, Asena Pinar, Kolukisa, Burcu, Jalbert, Jessica J, Meagher, Karoline A, Brackin, Taylor, Feldman, Hagit Baris, Baris, Safa, Karakoc-Aydiner, Elif, Ergelen, Rabia, Fuss, Ivan J, Moorman, Heather, Suratannon, Narissara, Suphapeetiporn, Kanya, Perlee, Lorah, Harari, Olivier A, Yancopoulos, George D, Lenardo, Michael J, Miller, Jutta L., Eshach Adiv, Orly, Bilgic Eltan, Sevgi, Yorgun Altunbas, Melek, Magliocco, Mary, Matthews, Helen, Marciano, Beatriz E., Chatchatee, Pantipa, Trbovic, Caryn F., Burczynski, Michael E., Chaudhari, Umesh, Usta, Yusuf, Altuntaş, Cansu, Yavuz, Sibel, Baştürk, Ahmet, Demirbaş Ar, Fatma, Topal, Erdem, Kalaycı, Ayhan Gazi, Weerapakorn, Wanlapa, Calabi Martínez, Ana Andrea, Bottero, Adriana

“…CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is an ultra-rare genetic disorder…”
Get full text

Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease by Chandrasekaran, Prabha, Han, Yu, Zerbe, Christa S, Heller, Theo, DeRavin, Suk See, Kreuzberg, Samantha A, Marciano, Beatriz E, Siu, Yik, Jones, Drew R, Abraham, Roshini S, Stephens, Michael C, Tsou, Amy M, Snapper, Scott, Conlan, Sean, Subramanian, Poorani, Quinones, Mariam, Grou, Caroline, Calderon, Virginie, Deming, Clayton, Leiding, Jennifer W, Arnold, Danielle E, Logan, Brent R, Griffith, Linda M, Petrovic, Aleksandra, Mousallem, Talal I, Kapoor, Neena, Heimall, Jennifer R, Barnum, Jessie L, Kapadia, Malika, Wright, Nicola, Rayes, Ahmad, Chandra, Sharat, Broglie, Larisa A, Chellapandian, Deepak, Deal, Christin L, Grunebaum, Eyal, Lim, Stephanie Si, Mallhi, Kanwaldeep, Marsh, Rebecca A, Murguia-Favela, Luis, Parikh, Suhag, Touzot, Fabien, Cowan, Morton J, Dvorak, Christopher C, Haddad, Elie, Kohn, Donald B, Notarangelo, Luigi D, Pai, Sung-Yun, Puck, Jennifer M, Pulsipher, Michael A, Torgerson, Troy R, Kang, Elizabeth M, Malech, Harry L, Segre, Julia A, Bryant, Clare E, Holland, Steven M, Falcone, Emilia Liana

“…Chronic granulomatous disease (CGD) is caused by defects in any 1 of the 6 subunits forming the nicotinamide adenine dinucleotide phosphate oxidase complex 2…”
Get full text