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1. Phase I Study of Zotiraciclib in Combination with Temozolomide for Patients with Recurrent High-grade Astrocytomas

Author

Wu, Jing, Yuan, Ying, Priel, Debra A Long, Fink, Danielle, Peer, Cody J, Sissung, Tristan M, Su, Yu-Ting, Pang, Ying, Yu, Guangyang, Butler, Madison K, Mendoza, Tito R, Vera, Elizabeth, Ahmad, Salman, Bryla, Christine, Lindsley, Matthew, Grajkowska, Ewa, Mentges, Kelly, Boris, Lisa, Antony, Ramya, Garren, Nancy, Siegel, Christine, Lollo, Nicole, Cordova, Christine, Aboud, Orwa, Theeler, Brett J, Burton, Eric M, Penas-Prado, Marta, Leeper, Heather, Gonzales, Javier, Armstrong, Terri S, Calvo, Katherine R, Figg, William D, Kuhns, Douglas B, Gallin, John I, and Gilbert, Mark R

Subjects
Digestive Diseases, Rare Diseases, Cancer, Patient Safety, Clinical Research, Clinical Trials and Supportive Activities, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Antineoplastic Combined Chemotherapy Protocols, Astrocytoma, Bayes Theorem, Brain Neoplasms, Dacarbazine, Humans, Maximum Tolerated Dose, Temozolomide, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

PurposeTo investigate the toxicity profile and establish an optimal dosing schedule of zotiraciclib with temozolomide in patients with recurrent high-grade astrocytoma.Patients and methodsThis two-stage phase I trial determined the MTD of zotiraciclib combined with either dose-dense (Arm1) or metronomic (Arm2) temozolomide using a Bayesian Optimal Interval design; then a randomized cohort expansion compared the progression-free survival rate at 4 months (PFS4) of the two arms for an efficient determination of a temozolomide schedule to combine with zotiraciclib at MTD. Pharmacokinetic and pharmacogenomic profiling were included. Patient-reported outcome was evaluated by longitudinal symptom burden.ResultsFifty-three patients were enrolled. Dose-limiting toxicities were neutropenia, diarrhea, elevated liver enzymes, and fatigue. MTD of zotiraciclib was 250 mg in both arms and thus selected for the cohort expansion. Dose-dense temozolomide plus zotiraciclib (PSF4 40%) compared favorably with metronomic temozolomide (PFS4 25%). Symptom burden worsened at cycle 2 but stabilized by cycle 4 in both arms. A significant decrease in absolute neutrophil count and neutrophil reactive oxygen species production occurred 12-24 hours after an oral dose of zotiraciclib but both recovered by 72 hours. Pharmacokinetic/pharmacogenomic analyses revealed that the CYP1A2_5347T>C (rs2470890) polymorphism was associated with higher AUCinf value.ConclusionsZotiraciclib combined with temozolomide is safe in patients with recurrent high-grade astrocytomas. Zotiraciclib-induced neutropenia can be profound but mostly transient, warranting close monitoring rather than treatment discontinuation. Once validated, polymorphisms predicting drug metabolism may allow personalized dosing of zotiraciclib.

Published
2021

4. Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)

Author

Roos, Dirk, van Leeuwen, Karin, Hsu, Amy P., Priel, Debra Long, Begtrup, Amber, Brandon, Rhonda, Rawat, Amit, Vignesh, Pandiarajan, Madkaikar, Manesha, Stasia, Marie José, Bakri, Faris Ghalib, de Boer, Martin, Roesler, Joachim, Köker, Nezihe, Köker, M. Yavuz, Jakobsen, Marianne, Bustamante, Jacinta, Garcia-Morato, Maria Bravo, Shephard, Juan Luis Valdivieso, Cagdas, Deniz, Tezcan, Ilhan, Sherkat, Roya, Mortaz, Esmaeil, Fayezi, Abbas, Shahrooei, Mohammad, Wolach, Baruch, Blancas-Galicia, Lizbeth, Kanegane, Hirokazu, Kawai, Toshinao, Condino-Neto, Antonio, Vihinen, Mauno, Zerbe, Christa S., Holland, Steven M., Malech, Harry L., Gallin, John I., and Kuhns, Douglas B.

Published
2021
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5. Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)

Author

Roos, Dirk, van Leeuwen, Karin, Hsu, Amy P., Priel, Debra Long, Begtrup, Amber, Brandon, Rhonda, Stasia, Marie José, Bakri, Faris Ghalib, Köker, Nezihe, Köker, M. Yavuz, Madkaika, Manisha, de Boer, Martin, Garcia-Morato, Maria Bravo, Shephard, Juan Luis Valdivieso, Roesler, Joachim, Kanegane, Hirokazu, Kawai, Toshinao, Di Matteo, Gigliola, Shahrooei, Mohammad, Bustamante, Jacinta, Rawat, Amit, Vignesh, Pandiarajan, Mortaz, Esmaeil, Fayezi, Abbas, Cagdas, Deniz, Tezcan, Ilhan, Kitcharoensakkul, Maleewan, Dinauer, Mary C., Meyts, Isabelle, Wolach, Baruch, Condino-Neto, Antonio, Zerbe, Christa S., Holland, Steven M., Malech, Harry L., Gallin, John I., and Kuhns, Douglas B.

Published
2021
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7. Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.

Author

Morimoto, Marie, Nicoli, Elena-Raluca, Kuptanon, Chulaluck, Roney, Joseph C., Serra-Vinardell, Jenny, Sharma, Prashant, Adams, David R., Gallin, John I., Holland, Steven M., Rosenzweig, Sergio D., Barbot, Jose, Ciccone, Carla, Huizing, Marjan, Toro, Camilo, Gahl, William A., Introne, Wendy J., and Malicdan, May Christine V.

Abstract

Introduction Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterised by partial oculocutaneous albinism, a bleeding diathesis, immunological dysfunction and neurological impairment. Bi-allelic loss-of-function variants in LYST cause CHS. LYST encodes the lysosomal trafficking regulator, a highly conserved 429 kDa cytoplasmic protein with an unknown function. Methods: To further our understanding of the pathogenesis of CHS, we conducted clinical evaluations on individuals with CHS enrolled in our natural history study. Using genomic DNA Sanger sequencing, we identified novel pathogenic LYST variants. Additionally, we performed an extensive literature review to curate reported LYST variants and classified these novel and reported variants according to the American College of Medical Genetics/Association for Molecular Pathology variant interpretation guidelines. Results Our investigation unveiled 11 novel pathogenic LYST variants in eight patients with a clinical diagnosis of CHS, substantiated by the presence of pathognomonic giant intracellular granules. From these novel variants, together with a comprehensive review of the literature, we compiled a total of 147 variants in LYST, including 61 frameshift variants (41%), 44 nonsense variants (30%), 23 missense variants (16%), 13 splice site variants or small genomic deletions for which the coding effect is unknown (9%), 5 in-frame variants (3%) and 1 start-loss variant (1%). Notably, a genotype-phenotype correlation emerged, whereby individuals harbouring at least one missense or in-frame variant generally resulted in milder disease, while those with two nonsense or frameshift variants generally had more severe disease. Conclusion The identification of novel pathogenic LYST variants and improvements in variant classification will provide earlier diagnoses and improved care to individuals with CHS. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Spectrum ofLYSTmutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Author

Morimoto, Marie, primary, Nicoli, Elena-Raluca, additional, Kuptanon, Chulaluck, additional, Roney, Joseph C, additional, Serra-Vinardell, Jenny, additional, Sharma, Prashant, additional, Adams, David R, additional, Gallin, John I, additional, Holland, Steven M, additional, Rosenzweig, Sergio D, additional, Barbot, Jose, additional, Ciccone, Carla, additional, Huizing, Marjan, additional, Toro, Camilo, additional, Gahl, William A, additional, Introne, Wendy J, additional, and Malicdan, May Christine V, additional

Published
2023
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9. The Changing Paradigm of Management of Liver Abscesses in Chronic Granulomatous Disease

Author

Straughan, David M., McLoughlin, Kaitlin C., Mullinax, John E., Marciano, Beatriz E., Freeman, Alexandra F., Anderson, Victoria L., Uzel, Gulbu, Azoury, Saїd 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., and Rudloff, Udo

Published
2018

10. Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism

Author

Hsu, Amy P, Sowerwine, Kathryn J, Lawrence, Monica G, Davis, Joie, Henderson, Carolyn J, Zarember, Kol A, Garofalo, Mary, Gallin, John I, Kuhns, Douglas B, Heller, Theo, Milner, Joshua D, Puck, Jennifer M, Freeman, Alexandra F, and Holland, Steven M

Subjects
Biomedical and Clinical Sciences, Immunology, Clinical Research, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Adult, Alleles, Base Sequence, Exons, Humans, Job Syndrome, Male, Middle Aged, Mosaicism, Mutation, Phenotype, Polymorphism, Single Nucleotide, STAT3 Transcription Factor, Th17 Cells, Somatic mosaicism, autosomal dominant hyper-IgE syndrome, Job syndrome, signal transducer and activator of transcription 3, Allergy
Abstract

BackgroundAutosomal dominant hyper-IgE syndrome (AD-HIES) is caused by mutations in signal transducer and activator of transcription 3 (STAT3). We describe 2 subjects in whom somatic mosaicism was associated with intermediate phenotypes.ObjectiveSomatic mosaics might shed light on the pathogenesis of dominant STAT3 mutations and the mechanisms behind the immunologic and nonimmunologic features of the disease.MethodsClinical evaluations were conducted. Mutant STAT3 was amplified from different tissues and sequenced, and the percentage of mosaicism in various cell types was calculated. Flow cytometry was performed to determine percentages of IL-17(+) cells, IL-22(+) cells, or both. Suction blisters were induced in 1 subject, and exudate fluid was analyzed for whether emigrating neutrophils were STAT3 mutant or wild-type; neutrophils from peripheral blood were simultaneously examined.ResultsThe 2 subjects with STAT3 somatic mosaicism had intermediate phenotypes and were found to have preserved TH17 cell compartments and apparently normal CD8 cells. However, they still had infections, including mucocutaneous candidiasis. The percentage of STAT3 mutant neutrophils migrating into blisters at 16 hours was the same as in peripheral blood, suggesting normal chemotaxis.ConclusionSTAT3 mosaicism accounts for a milder phenotype and allows for further investigation into the pathogenesis of AD-HIES. Despite having a preserved TH17 cell compartment, both subjects with mosaicism had chronic mucocutaneous candidiasis, suggesting that candidiasis in subjects with AD-HIES is not driven solely by low TH17 cell numbers. The percentage of STAT3 mutant neutrophils emigrating into a suction blister at 16 hours was the same as the percentage in peripheral blood, suggesting that early chemotaxis of STAT3 neutrophils is normal in vivo.

Published
2013

12. TNF overproduction impairs epithelial staphylococcal response in hyper IgE syndrome

Author

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., and Datta, Sandip K.

Subjects
Staphylococcus aureus -- Health aspects, Epithelial cells -- Research, Immune response -- Research, Immunoglobulin E -- Health aspects, Health care industry
Abstract

Autosomal dominant hyper IgE syndrome (AD-HIES), or Job's syndrome, is a primary immune deficiency caused by dominant-negative mutations in STAT3. Recurrent Staphylococcus aureus skin abscesses are a defining feature of this syndrome. A widely held hypothesis that defects in peripheral Th17 differentiation confer this susceptibility has never been directly evaluated. To assess the cutaneous immune response in AD-HIES, we induced suction blisters in healthy volunteers (HVs) and patients with AD-HIES and then challenged the wound with lethally irradiated bacteria. We show that cutaneous production of IL-17A and IL-17F was normal in patients with AD-HIES. Overproduction of TNF- [alpha] differentiated the responses in ADHIES from HVs. This was associated with reduced IL-10 family signaling in blister- infiltrating cells and defective epithelial cell function. Mouse models of AD-HIES recapitulated these aberrant epithelial responses to S. aureus and involved defective epithelial-to-mesenchymal transition (EMT) rather than a failure of bacterial killing. Defective responses in mouse models of AD-HIES and primary keratinocyte cultures from patients with AD-HIES could be reversed by TNF-[alpha] blockade and by drugs with reported modulatory effects on EMT. Our results identify these as potential therapeutic approaches in patients with ADHIES suffering S. aureus infections., Introduction Autosomal dominant hyper IgE syndrome (AD-HIES), also known as Job's syndrome, is a primary immune deficiency caused by dominant-negative loss-of-function mutations in the STAT3 gene. Recurrent Staphylococcus aureus skin [...]

Published
2018
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13. Development of an improved and specific inhibitor of NADPH oxidase 2 to treat traumatic brain injury

Author

Mason, Hannah, primary, Rai, Ganesha, additional, Kozyr, Arina, additional, De Jonge, Nathaniel, additional, Gliniewicz, Emily, additional, Berg, Lars J., additional, Wald, Gal, additional, Dorrier, Cayce, additional, Henderson, Mark J., additional, Zakharov, Alexey, additional, Dyson, Tristan, additional, Audley, John, additional, Pettinato, Anthony M., additional, Padilha, Elias Carvalho, additional, Shah, Pranav, additional, Xu, Xin, additional, Leto, Thomas L., additional, Simeonov, Anton, additional, Zarember, Kol A., additional, McGavern, Dorian B., additional, and Gallin, John I., additional

Published
2023
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14. Supplementary materials-Neutrophil chemotaxis videos from Phase I Study of Zotiraciclib in Combination with Temozolomide for Patients with Recurrent High-grade Astrocytomas

Author

Wu, Jing, primary, Yuan, Ying, primary, Long Priel, Debra A., primary, Fink, Danielle, primary, Peer, Cody J., primary, Sissung, Tristan M., primary, Su, Yu-Ting, primary, Pang, Ying, primary, Yu, Guangyang, primary, Butler, Madison K., primary, Mendoza, Tito R., primary, Vera, Elizabeth, primary, Ahmad, Salman, primary, Bryla, Christine, primary, Lindsley, Matthew, primary, Grajkowska, Ewa, primary, Mentges, Kelly, primary, Boris, Lisa, primary, Antony, Ramya, primary, Garren, Nancy, primary, Siegel, Christine, primary, Lollo, Nicole, primary, Cordova, Christine, primary, Aboud, Orwa, primary, Theeler, Brett J., primary, Burton, Eric M., primary, Penas-Prado, Marta, primary, Leeper, Heather, primary, Gonzales, Javier, primary, Armstrong, Terri S., primary, Calvo, Katherine R., primary, Figg, William D., primary, Kuhns, Douglas B., primary, Gallin, John I., primary, and Gilbert, Mark R., primary

Published
2023
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15. Supplementary Data from Phase I Study of Zotiraciclib in Combination with Temozolomide for Patients with Recurrent High-grade Astrocytomas

Author

Wu, Jing, primary, Yuan, Ying, primary, Long Priel, Debra A., primary, Fink, Danielle, primary, Peer, Cody J., primary, Sissung, Tristan M., primary, Su, Yu-Ting, primary, Pang, Ying, primary, Yu, Guangyang, primary, Butler, Madison K., primary, Mendoza, Tito R., primary, Vera, Elizabeth, primary, Ahmad, Salman, primary, Bryla, Christine, primary, Lindsley, Matthew, primary, Grajkowska, Ewa, primary, Mentges, Kelly, primary, Boris, Lisa, primary, Antony, Ramya, primary, Garren, Nancy, primary, Siegel, Christine, primary, Lollo, Nicole, primary, Cordova, Christine, primary, Aboud, Orwa, primary, Theeler, Brett J., primary, Burton, Eric M., primary, Penas-Prado, Marta, primary, Leeper, Heather, primary, Gonzales, Javier, primary, Armstrong, Terri S., primary, Calvo, Katherine R., primary, Figg, William D., primary, Kuhns, Douglas B., primary, Gallin, John I., primary, and Gilbert, Mark R., primary

Published
2023
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16. Supplementary materials-Clinical trial protocol from Phase I Study of Zotiraciclib in Combination with Temozolomide for Patients with Recurrent High-grade Astrocytomas

Author

Wu, Jing, primary, Yuan, Ying, primary, Long Priel, Debra A., primary, Fink, Danielle, primary, Peer, Cody J., primary, Sissung, Tristan M., primary, Su, Yu-Ting, primary, Pang, Ying, primary, Yu, Guangyang, primary, Butler, Madison K., primary, Mendoza, Tito R., primary, Vera, Elizabeth, primary, Ahmad, Salman, primary, Bryla, Christine, primary, Lindsley, Matthew, primary, Grajkowska, Ewa, primary, Mentges, Kelly, primary, Boris, Lisa, primary, Antony, Ramya, primary, Garren, Nancy, primary, Siegel, Christine, primary, Lollo, Nicole, primary, Cordova, Christine, primary, Aboud, Orwa, primary, Theeler, Brett J., primary, Burton, Eric M., primary, Penas-Prado, Marta, primary, Leeper, Heather, primary, Gonzales, Javier, primary, Armstrong, Terri S., primary, Calvo, Katherine R., primary, Figg, William D., primary, Kuhns, Douglas B., primary, Gallin, John I., primary, and Gilbert, Mark R., primary

Published
2023
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17. Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

Author

Kuhns, Douglas B., Fink, Danielle L., Choi, Uimook, Sweeney, Colin, Lau, Karen, Priel, Debra Long, Riva, Dara, Mendez, Laura, Uzel, Gulbu, Freeman, Alexandra F., Olivier, Kenneth N., Anderson, Victoria L., Currens, Robin, Mackley, Vanessa, Kang, Allison, Al-Adeli, Mehdi, Mace, Emily, Orange, Jordan S., Kang, Elizabeth, Lockett, Stephen J., Chen, De, Steinbach, Peter J., Hsu, Amy P., Zarember, Kol A., Malech, Harry L., Gallin, John I., and Holland, Steven M.

Published
2016
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19. Basic science: Bedrock of progress

Author

Collins, Francis S., Anderson, James M., Austin, Christopher P., Battey, James F., Birnbaum, Linda S., Briggs, Josephine P., Clayton, Janine A., Cuthbert, Bruce, Eisinger, Robert W., Fauci, Anthony S., Gallin, John I., Gibbons, Gary H., Glass, Roger I., Gottesman, Michael M., Gray, Patricia A., Green, Eric D., Greider, Franziska B., Hodes, Richard, Hudson, Kathy L., Humphreys, Betsy, Katz, Stephen I., Koob, George F., Koroshetz, Walter J., Lauer, Michael S., Lorsch, Jon R., Lowy, Douglas R., McGowan, John J., Murray, David M., Nakamura, Richard, Norris, Andrea, Perez-Stable, Eliseo J., Pettigrew, Roderic I., Riley, William T., Rodgers, Griffin P., Sieving, Paul A., Somerman, Martha J., Spong, Catherine Y., Tabak, Lawrence A., Volkow, Nora D., and Wilder, Elizabeth L.

Published
2016

20. Spectrum of LYSTmutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Author

Morimoto, Marie, Nicoli, Elena-Raluca, Kuptanon, Chulaluck, Roney, Joseph C, Serra-Vinardell, Jenny, Sharma, Prashant, Adams, David R, Gallin, John I, Holland, Steven M, Rosenzweig, Sergio D, Barbot, Jose, Ciccone, Carla, Huizing, Marjan, Toro, Camilo, Gahl, William A, Introne, Wendy J, and Malicdan, May Christine V

Abstract

IntroductionChediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterised by partial oculocutaneous albinism, a bleeding diathesis, immunological dysfunction and neurological impairment. Bi-allelic loss-of-function variants in LYSTcause CHS. LYSTencodes the lysosomal trafficking regulator, a highly conserved 429 kDa cytoplasmic protein with an unknown function.MethodsTo further our understanding of the pathogenesis of CHS, we conducted clinical evaluations on individuals with CHS enrolled in our natural history study. Using genomic DNA Sanger sequencing, we identified novel pathogenic LYSTvariants. Additionally, we performed an extensive literature review to curate reported LYSTvariants and classified these novel and reported variants according to the American College of Medical Genetics/Association for Molecular Pathology variant interpretation guidelines.ResultsOur investigation unveiled 11 novel pathogenic LYSTvariants in eight patients with a clinical diagnosis of CHS, substantiated by the presence of pathognomonic giant intracellular granules. From these novel variants, together with a comprehensive review of the literature, we compiled a total of 147 variants in LYST, including 61 frameshift variants (41%), 44 nonsense variants (30%), 23 missense variants (16%), 13 splice site variants or small genomic deletions for which the coding effect is unknown (9%), 5 in-frame variants (3%) and 1 start-loss variant (1%). Notably, a genotype–phenotype correlation emerged, whereby individuals harbouring at least one missense or in-frame variant generally resulted in milder disease, while those with two nonsense or frameshift variants generally had more severe disease.ConclusionThe identification of novel pathogenic LYSTvariants and improvements in variant classification will provide earlier diagnoses and improved care to individuals with CHS.

Published
2024
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21. Preface

Author

Gallin, John I., primary, Ognibene, Frederick P., additional, and Johnson, Laura Lee, additional

Published
2018
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22. List of Contributors

Author

Albert, Paul S., primary, Bartrum, Elizabeth A., additional, Berliner, Karen E., additional, Blome, Juliana, additional, Bond, Enriqueta, additional, Bonham, Valerie H., additional, Borkowf, Craig B., additional, Burklow, John T., additional, Califf, Robert M., additional, Chan, Leighton, additional, Cheng, Sue, additional, Cimino, James J., additional, Clayton, Janine, additional, Coffey, Patricia S., additional, Colbert, Melissa C., additional, Duberman, Josh A., additional, Feige, Michelle, additional, Fisher, Cheryl A., additional, Flannery, Molly M., additional, Franko, Maryrose, additional, Freeman, Bradley D., additional, Gallin, Elaine K., additional, Gallin, John I., additional, Gerber, Naomi L., additional, Goldstein, Bruce, additional, Good, Marjorie J., additional, Gottesman, Michael M., additional, Grady, Christine, additional, Henderson, David K., additional, Ide, Nicholas C., additional, Jarow, Jonathan P., additional, Johnson, Laura Lee, additional, Karp, Barbara I., additional, Klein, Phyllis, additional, Lee, Laura M., additional, Lertora, Juan J.L., additional, Maloney, Diane M., additional, McGarey, Patrick, additional, McKee, Amy E., additional, McKeeby, Jon W., additional, Mullin, Theresa, additional, Natanson, Charles, additional, Nieman, Lynnette, additional, Nussenblatt, Robert B., additional, Ognibene, Frederick P., additional, Olopade, Christopher O., additional, Olopade, Olufunmilayo I., additional, Prenger, Valerie L., additional, Price, Jillian K., additional, Proschan, Michael A., additional, Sachs, Jerry, additional, Sclafani, Joseph A., additional, Selby, Joe V., additional, Shaw, Pamela A., additional, Sherman, Kelly S., additional, Sieving, Pamela C., additional, Skubitz, Amy P.N., additional, Slutsky, Jean R., additional, Slutsman, Julia, additional, St Germain, Diane C., additional, Stoney, Catherine M., additional, Straus, Stephen E., additional, Summers, Elyse I., additional, Sun, Junfeng, additional, Tagle, Michelle, additional, Tse, Tony, additional, Vanevski, Konstantina M., additional, Wakim, Paul G., additional, Wallen, Gwenyth R., additional, Whitlock, Evelyn P., additional, Williams, Rebecca J., additional, and Zarin, Deborah A., additional

Published
2018
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25. X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability

Author

Marciano, Beatriz E., Zerbe, Christa S., Falcone, Liana E., Ding, Li, DeRavin, Suk See, Daub, Janine, Kreuzburg, Samantha, Yockey, Lynne, Hunsberger, Sally, Foruraghi, Ladan, Barnhart, Lisa A., Matharu, Kabir, Anderson, Victoria, Darnell, Dirk N., Frein, Cathleen, Fink, Danielle L., Lau, Karen P., Priel, Debra Long A., Gallin, John I., Malech, Harry L., Uzel, Gulbu, Freeman, Alexandra F., Kuhns, Douglas B., Rosenzweig, Sergio D., and Holland, Steven M.

Published
2018
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31. Contributors

Author

Aagaard, Kjersti, primary, Abrahamian, Fredrick M., additional, Allos, Ban Mishu, additional, Andes, David R., additional, Aoki, Fred Y., additional, Apicella, Michael A., additional, Ard, Kevin L., additional, Arias, Cesar A., additional, Aronoff, David M., additional, Augenbraun, Michael H., additional, Averhoff, Francisco, additional, Azar, Dimitri T., additional, Baddour, Larry M., additional, Baden, Lindsey R., additional, Baker, Carol J., additional, Ballard, Ronald C., additional, Barber, Gerard R., additional, Barnes, Scott D., additional, Barouch, Dan H., additional, Barrett, Alan D., additional, Barshak, Miriam Baron, additional, Basavaraju, Sridhar V., additional, Batteiger, Byron E., additional, Baum, Stephen G., additional, Bayer, Arnold S., additional, Beckham, J. David, additional, Beekmann, Susan E., additional, Bell, Beth P., additional, Bennett, John E., additional, Bente, Dennis A., additional, Berbari, Elie F., additional, Berman, Jonathan, additional, Bertino, Joseph S., additional, Bhimraj, Adarsh, additional, Birdsall, Holly H., additional, Bisno, Alan L., additional, Blackburn, Brian G., additional, Blanton, Lucas S., additional, Blaser, Martin J., additional, Bleck, Thomas P., additional, Blijlevens, Nicole M.A., additional, Bobak, David A., additional, Bonnez, William, additional, Boothroyd, John C., additional, Borio, Luciana L., additional, Bosque, Patrick J., additional, Bower, John, additional, Bradsher, Robert W., additional, Brook, Itzhak, additional, Brown, Kevin E., additional, Brown, Patricia D., additional, Brown-Elliott, Barbara A., additional, Bruhn, Roberta L., additional, Bryant, Amy E., additional, Burd, Eileen M., additional, Burns, Jane C., additional, Bush, Larry M., additional, Calderwood, Stephen B., additional, Cano, Luz Elena, additional, Carpenter, Charles C.J., additional, Caserta, Mary T., additional, Castagnola, Elio, additional, Chaisson, Richard E., additional, Chambers, Henry F., additional, Chapman, Stephen J., additional, Chappell, James D., additional, Chen, Lea Ann, additional, Chen, Sharon C-A, additional, Chow, Anthony W., additional, Clark, Rebecca A., additional, Cohen, Jeffrey I., additional, Cohen, Myron S., additional, Cohen-Poradosu, Ronit, additional, Cohn, Susan E., additional, Connors, Mark, additional, Corey, Lawrence, additional, Cottrell, Mackenzie L., additional, Cover, Timothy L., additional, Cox, Heather L., additional, Craig, William A., additional, Crossley, Kent B., additional, Crumpacker, Clyde S., additional, Curran, James W., additional, Currie, Bart J., additional, D'Agata, Erika, additional, Damon, Inger K., additional, Darouiche, Rabih O., additional, DeBiasi, Roberta L., additional, Deepe, George S., additional, del Rio, Carlos, additional, Delemos, Andrew S., additional, DeLeo, Frank R., additional, DeMuri, Gregory P., additional, Densen, Peter, additional, Dermody, Terence S., additional, Dewar, Robin, additional, Diaz, James H., additional, Dieffenbach, Carl W., additional, Dienstag, Jules L., additional, Doi, Yohei, additional, Dolin, Raphael, additional, Donnelly, J. Peter, additional, Donnenberg, Michael S., additional, Donowitz, Gerald R., additional, Dormitzer, Philip R., additional, Drake, James M., additional, Dumler, J. Stephen, additional, Dummer, J. Stephen, additional, DuPont, Herbert L., additional, Durack, David T., additional, Durand, Marlene L., additional, Edelstein, Paul H., additional, Edmond, Michael B., additional, Edwards, John E., additional, Edwards, Morven S., additional, Eliopoulos, George M., additional, Ellison, Richard T., additional, Endy, Timothy P., additional, Engleberg, N. Cary, additional, Erdem, Hakan, additional, Ernst, Joel D., additional, Ernst, Peter B., additional, Fairhurst, Rick M., additional, Fairley, Jessica K., additional, Falkow, Stanley, additional, Falsey, Ann R., additional, Fauci, Anthony S., additional, Fekete, Thomas, additional, Fey, Paul D., additional, Fine, Steven M., additional, Fitzgerald, Daniel W., additional, Flores, Anthony R., additional, Forster, Derek, additional, Fowler, Vance G., additional, Freedman, David O., additional, Friedlander, Arthur M., additional, Galgiani, John N., additional, Gallin, John I., additional, Gallo, Robert C., additional, Gandhi, Tejal N., additional, Garrett, Wendy S., additional, Gaydos, Charlotte A., additional, Geisbert, Thomas W., additional, Gelfand, Jeffrey A., additional, Gelone, Steven P., additional, Gerding, Dale N., additional, Gershon, Anne A., additional, Gilsdorf, Janet R., additional, Goldstein, Ellie J.C., additional, Gordin, Fred M., additional, Graman, Paul S., additional, Grayson, M. Lindsay, additional, Greene, Jeffrey Bruce, additional, Griffin, Patricia M., additional, Griffith, David E., additional, Guerrant, Richard L., additional, Gul, H. Cem, additional, Haake, David A., additional, Haas, David W., additional, Haines, Charles, additional, Hall, Caroline Breese, additional, Hallak, Joelle, additional, Halperin, Scott A., additional, Hammerschlag, Margaret R., additional, Haque, Rashidul, additional, Harris, Jason B., additional, Hawkins, Claudia, additional, Hay, Roderick J., additional, Hedberg, Craig W., additional, Henderson, David K., additional, Henderson, Donald A., additional, High, Kevin P., additional, Hill, Adrian V.S., additional, Hill, David R., additional, Hinman, Alan R., additional, Hirsch, Martin S., additional, Hodowanec, Aimee, additional, Hohl, Tobias M., additional, Holland, Steven M., additional, Holzman, Robert S., additional, Hook, Edward W., additional, Hooper, David C., additional, Hooton, Thomas M., additional, Horowitz, Harold W., additional, Horsburgh, C. Robert, additional, Horton, James M., additional, Hospenthal, Duane R., additional, Hsueh, Kevin, additional, Hughes, James M., additional, Hynes, Noreen A., additional, Iovine, Nicole M., additional, Iredell, Jonathan R., additional, Ison, Michael G., additional, Janda, J. Michael, additional, Janoff, Edward N., additional, Johannsen, Eric C., additional, Kashuba, Angela D.M., additional, Kasper, Dennis L., additional, Kaye, Donald, additional, Kaye, Keith S., additional, Kaye, Kenneth M., additional, Kazura, James W., additional, Keystone, Jay S., additional, Khabbaz, Rima, additional, Khan, David A., additional, Khudyakov, Yury, additional, Kim, Rose, additional, King, Charles H., additional, Kirchhoff, Louis V., additional, Klein, Jerome O., additional, Klompas, Michael, additional, Knoll, Bettina M., additional, Knowlton, Kirk U., additional, Koehler, Jane E., additional, Kohlhoff, Stephan A., additional, Könönen, Eija, additional, Kontoyiannis, Dimitrios P., additional, Koralnik, Igor J., additional, Korpe, Poonum S., additional, Koshy, Anita A., additional, Kovacs, Joseph A., additional, Kozarsky, Phyllis, additional, Krieger, John, additional, Kroger, Andrew T., additional, Kuehnert, Matthew J., additional, Kumar, Nalin M., additional, Kuruvilla, Merin Elizabeth, additional, LaRocque, Regina C., additional, Leggett, James E., additional, Legido-Quigley, Helena, additional, Levett, Paul N., additional, Levine, Donald P., additional, Levison, Matthew E., additional, Levitt, Alexandra, additional, Lewis, Russell E., additional, Liles, W. Conrad, additional, Lima, Aldo A.M., additional, Limaye, Ajit P., additional, Lipkin, W. Ian, additional, Litman, Nathan, additional, Lorber, Bennett, additional, Luna, Ruth Ann, additional, MacDougall, Conan, additional, Roy, Rob, additional, Mackowiak, Philip A., additional, Madoff, Lawrence C., additional, Magill, Alan J., additional, Maguire, James H., additional, Maldarelli, Frank, additional, Markoff, Lewis, additional, Marrazzo, Jeanne M., additional, Marrie, Thomas J., additional, Marth, Thomas, additional, Martin, David H., additional, Martin, Gregory J., additional, Marty, Francisco M., additional, Maslow, Melanie Jane, additional, Masur, Henry, additional, Mawle, Alison, additional, Mayer, Kenneth H., additional, McBride, John T., additional, McCarthy, James S., additional, McCormack, William M., additional, McGowan, Catherine C., additional, McIntosh, Kenneth, additional, Mead, Paul S., additional, Mikulska, Malgorzata, additional, Miller, Robert F., additional, Miller, Samuel I., additional, Mitchell, David H., additional, Modlin, John F., additional, Mody, Rajal K., additional, Moellering, Robert C., additional, Moffa, Matthew, additional, Moir, Susan, additional, Montoya, José G., additional, Moore, Thomas A., additional, Moreillon, Philippe, additional, Morris, J. Glenn, additional, Morse, Caryn Gee, additional, Moseley, Robin, additional, Munford, Robert S., additional, Murphy, Edward L., additional, Murphy, Timothy F., additional, Murray, Barbara E., additional, Murray, Clinton K., additional, Murray, Patrick R., additional, Musher, Daniel M., additional, Nagel, Jerod L., additional, Nannini, Esteban C., additional, Narezkina, Anna, additional, Nash, Theodore E., additional, Nauseef, William M., additional, Nayak, Jennifer L., additional, Neill, Marguerite A., additional, O'Donnell, Judith A., additional, Ohl, Christopher A., additional, Okhuysen, Pablo C., additional, Onderdonk, Andrew B., additional, Opal, Steven M., additional, Orenstein, Walter A., additional, Osmon, Douglas R., additional, Osterholm, Michael T., additional, Ostroff, Stephen M., additional, Oxman, Michael N., additional, Paessler, Slobodan, additional, Page, Andrea V., additional, Pai, Manjunath P., additional, Palmore, Tara N., additional, Palraj, Raj, additional, Pappas, Peter G., additional, Pasternack, Mark S., additional, Patterson, Thomas F., additional, Pavan-Langston, Deborah, additional, Pegues, David A., additional, Penn, Robert L., additional, Perfect, John R., additional, Perlman, Stanley, additional, Petersen, Brett W., additional, Peterson, Phillip K., additional, Petri, William A., additional, Petti, Cathy A., additional, Philips, Jennifer A., additional, Philley, Julie V., additional, Phillips, Michael, additional, Pickering, Larry K., additional, Piot, Peter, additional, Pogue, Jason M., additional, Pop-Vicas, Aurora, additional, Portal-Celhay, Cynthia, additional, Powers, John H., additional, Price, Richard N., additional, Que, Yok-Ai, additional, Radolf, Justin D., additional, Ram, Sanjay, additional, Raoult, Didier, additional, Ravdin, Jonathan I., additional, Ray, Stuart C., additional, Reboli, Annette C., additional, Reitz, Marvin S., additional, Relman, David A., additional, Renault, Cybèle A., additional, Restrepo, Angela, additional, Rex, John H., additional, Rhee, Elizabeth G., additional, Roberts, Norbert J., additional, Romero, José R., additional, Rothman, Alan L., additional, Roy, Craig R., additional, Ruoff, Kathryn L., additional, Rupp, Mark E., additional, Rupprecht, Charles E., additional, Russo, Thomas A., additional, Rutala, William A., additional, Ryan, Edward T., additional, Safdar, Amar, additional, Sajadi, Mohammad M., additional, Salazar, Juan C., additional, Sarria, Juan Carlos, additional, Savoia, Maria C., additional, Sax, Paul E., additional, Scheld, W. Michael, additional, Schiffer, Joshua T., additional, Schlossberg, David, additional, Schneider, Thomas, additional, Schuchat, Anne, additional, Schwebke, Jane R., additional, Sears, Cynthia L., additional, Segal, Leopoldo N., additional, Sendi, Parham, additional, Sepkowitz, Kent A., additional, Septimus, Edward J., additional, Seregin, Alexey, additional, Shulman, Stanford T., additional, Siberry, George K., additional, Siddiqi, Omar K., additional, Sifri, Costi D., additional, Simberkoff, Michael S., additional, Simonetti, Francesco R., additional, Singh, Kamaljit, additional, Singh, Nina, additional, Singh, Upinder, additional, Sinner, Scott W., additional, Sivapalasingam, Sumathi, additional, Slater, Leonard N., additional, Smulian, A. George, additional, Sobel, Jack D., additional, Sohail, M. Rizwan, additional, Soper, David E., additional, Sorrell, Tania C., additional, Steckelberg, James M., additional, Steere, Allen C., additional, Steigbigel, Neal H., additional, Steinberg, James P., additional, Stephens, David S., additional, Sterling, Timothy R., additional, Stevens, David A., additional, Stevens, Dennis L., additional, Strahilevitz, Jacob, additional, Stratton, Charles W., additional, Suffredini, Anthony F., additional, Suh, Kathryn N., additional, Sulkowski, Mark S., additional, Swartz, Morton N., additional, Talbot, Thomas R., additional, Tan, C. Sabrina, additional, Tan, Ming, additional, Thio, Chloe Lynne, additional, Thomas, David L., additional, Thomas, Lora D., additional, Thomas, Stephen J., additional, Thorner, Anna R., additional, María Tobón, Angela, additional, Tramont, Edmund C., additional, Treanor, John J., additional, Trubiano, Jason, additional, Tsibris, Athe M.N., additional, Tunkel, Allan R., additional, Turner, Ronald B., additional, Tyler, Kenneth L., additional, Uluer, Ahmet, additional, van de Beek, Diederik, additional, van der Velden, Walter J.F.M., additional, Vannier, Edouard G., additional, Van, Trevor C., additional, Versalovic, James, additional, Viscoli, Claudio, additional, Wald, Ellen R., additional, Waldor, Matthew K., additional, Walker, David H., additional, Wallace, Richard J., additional, Walsh, Edward E., additional, Walsh, Stephen R., additional, Walzer, Peter D., additional, Wanke, Christine A., additional, Warren, Cirle A., additional, Washburn, Ronald G., additional, Waters, Valerie, additional, Weber, David J., additional, Weiden, Michael D., additional, Weinberg, Geoffrey A., additional, Weisdorf, Daniel J., additional, Weiss, Louis M., additional, Welch, David F., additional, Wellems, Thomas E., additional, Wenzel, Richard P., additional, Wharton, Melinda, additional, White, A. Clinton, additional, Whitley, Richard J., additional, Wilson, Walter R., additional, Wortmann, Glenn W., additional, Wright, William F., additional, Young, Jo-Anne H., additional, Young, Vincent B., additional, Yun, Nadezhda, additional, Zimmerli, Werner, additional, Zinner, Stephen H., additional, and Zurlo, John J., additional

Published
2015
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34. Hematologically important mutations: X-linked chronic granulomatous disease (third update)

Author

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, and Gallin, John I.

Published
2010
Full Text
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43. Gastrointestinal Computed Tomography Findings in Chronic Granulomatous Disease with Subgroup Clinicopathologic Analysis

Author

Bhattacharya, Sumona, primary, Koethe, Yilun, additional, Ling, Alexander, additional, Kamal, Natasha, additional, Khangura, Sajneet, additional, Alimchandani, Meghna, additional, Quezado, Martha M., additional, Zerbe, Christa S., additional, Malech, Harry L., additional, Gallin, John I., additional, Holland, Steven M., additional, Heller, Theo, additional, Jones, Elizabeth, additional, and Venkatesan, Aradhana M., additional

Published
2021
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44. Residual NADPH oxidase and survival in chronic granulomatous disease

Author

Kuhns, Douglas B., Alvord, 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., and Gallin, John I.

Subjects
Chronic granulomatous disease -- Genetic aspects, Chronic granulomatous disease -- Care and treatment, Chromosome deletion -- Health aspects, Oxygen consumption -- Health aspects, Outcome and process assessment (Health Care)
Abstract

Heparinized blood specimens from both healthy subjects and patients with chronic granulomatous disease starting in 1993 were obtained to assess the risks of illness and death among 287 patients with chronic granulomatous disease and determine the link between residual reactive oxygen intermediates (ROIs) and survival in patients. Patients with chronic granulomatous disease and modest residual production of ROI were found to have significantly less severe illness and a greater likelihood of long-term survival than patients with little residual ROI production.

Published
2010

46. Granulibacter bethesdensis, a Pathogen from Patients with Chronic Granulomatous Disease, Produces a Penta-Acylated Hypostimulatory Glycero-D-talo-oct-2-ulosonic Acid–Lipid A Glycolipid (Ko-Lipid A)

Author

Muszyński, Artur, primary, Zarember, Kol A., additional, Heiss, Christian, additional, Shiloach, Joseph, additional, Berg, Lars J., additional, Audley, John, additional, Kozyr, Arina, additional, Greenberg, David E., additional, Holland, Steven M., additional, Malech, Harry L., additional, Azadi, Parastoo, additional, Carlson, Russell W., additional, and Gallin, John I., additional

Published
2021
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48. STAT3 mutations in the hyper-IgE syndrome

Author

Holland, Steven M., DeLeo, Frank R., Elloumi, Haouda Z., Brodsky, Nina, Freeman, Alexandra F., Davis, Joie, Turner, Maria L., Anderson, Victoria L., Darnell, Dirk N., Welch, Pamela A., Kuhns, Douglas B., Frucht,, David M., Malech, Harry L., Gallin, John I., Kobayashi, Scott D., Whitney, Adeline R., Voyich, Joavnka M., Musser, James M., Woellner, Cristina, Schaffer, Alejandro A., Puck, Jennifer M., and Grimbacher, Bodo

Subjects
Immunologic diseases -- Physiological aspects, Immunologic diseases -- Genetic aspects, Phagocyte bactericidal dysfunction -- Research, DNA binding proteins -- Research
Abstract

The signal transducer and activator of transcription 3 gene (STAT3) mutations in the hyper-IgE syndrome, a rare immunity disorder are analyzed. The unstimulated neurophils of the patients suffering from the disorder are found to contain increased levels of proinflammatory gene transcripts.

Published
2007

49. Introduction of Anthony S. Fauci, MD

Author

Gallin, John I.

Abstract

2007 Association of American Physicians George M. Kober Medal President Ausiello, members and guests of the association: I am very proud to have the honor to introduce this year's George [...]

Published
2007

50. Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease

Author

Siddiqui, Sophia, Anderson, Victoria L., Hilligoss, Diane M., Abinun, Mario, Kuijpers, Taco W., Masur, Henry, Witebsky, Frank G., Shea, Yvonne R., Gallin, John I., Malech, Henry L., and Holland, Steven M.

Subjects
Chronic granulomatous disease -- Causes of, Chronic granulomatous disease -- Genetic aspects, Chronic granulomatous disease -- Case studies, Chronic granulomatous disease -- Patient outcomes, Bacterial pneumonia -- Care and treatment, Pneumonia -- Care and treatment, Aspergillosis -- Patient outcomes, Medical emergencies -- Management, Company business management, Health, Health care industry
Published
2007

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