Zobrazeno 1 - 10
of 91
pro vyhledávání: '"David H. McDermott"'
Autor:
Adrienne Anginot, Julie Nguyen, Zeina Abou Nader, Vincent Rondeau, Amélie Bonaud, Maria Kalogeraki, Antoine Boutin, Julia P. Lemos, Valeria Bisio, Joyce Koenen, Lea Hanna Doumit Sakr, Amandine Picart, Amélie Coudert, Sylvain Provot, Nicolas Dulphy, Michel Aurrand-Lions, Stéphane J. C. Mancini, Gwendal Lazennec, David H. McDermott, Fabien Guidez, Claudine Blin-Wakkach, Philip M. Murphy, Martine Cohen-Solal, Marion Espéli, Matthieu Rouleau, Karl Balabanian
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
Abstract WHIM Syndrome is a rare immunodeficiency caused by gain-of-function CXCR4 mutations. Here we report a decrease in bone mineral density in 25% of WHIM patients and bone defects leading to osteoporosis in a WHIM mouse model. Imbalanced bone ti
Externí odkaz:
https://doaj.org/article/71e743108c284ff4a7d508b10f487735
Autor:
David H. McDermott, Daniel Velez, Elena Cho, Edward W. Cowen, John J. DiGiovanna, Diana V. Pastrana, Christopher B. Buck, Katherine R. Calvo, Pamela J. Gardner, Sergio D. Rosenzweig, Pamela Stratton, Melissa A. Merideth, H. Jeffrey Kim, Carmen Brewer, James D. Katz, Douglas B. Kuhns, Harry L. Malech, Dean Follmann, Michael P. Fay, Philip M. Murphy
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 19 (2023)
BACKGROUND Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a primary immunodeficiency disorder caused by heterozygous gain-of-function CXCR4 mutations. Myelokathexis is a kind of neutropenia caused by neutrophil retenti
Externí odkaz:
https://doaj.org/article/98358f563c30456d8a0d14cbd0e6b4b5
Autor:
David H. McDermott, Lauren E. Heusinkveld, Wadih M. Zein, H. Nida Sen, Martha M. Marquesen, Mark Parta, Sergio D. Rosenzweig, Gary A. Fahle, Michael D. Keller, Henry E. Wiley, Philip M. Murphy
Publikováno v:
F1000Research, Vol 8 (2019)
A patient with WHIM syndrome immunodeficiency presented with sudden painless right eye blindness associated with advanced retinal and optic nerve damage. Toxoplasma gondii was detected by PCR in vitreous fluid but not serum. The patient was treated w
Externí odkaz:
https://doaj.org/article/dcbc679e4ede4d2fae6f91f8f6d502d2
Autor:
David H. McDermott, Lauren E. Heusinkveld, Wadih M. Zein, H. Nida Sen, Martha M. Marquesen, Mark Parta, Sergio D. Rosenzweig, Gary A. Fahle, Michael D. Keller, Henry E. Wiley, Philip M. Murphy
Publikováno v:
F1000Research, Vol 8 (2019)
A patient with WHIM syndrome immunodeficiency presented with sudden painless right eye blindness associated with advanced retinal and optic nerve damage. Toxoplasma gondii was detected by PCR in vitreous fluid but not serum. The patient was treated w
Externí odkaz:
https://doaj.org/article/64e10cff075145eda6f00ed6633defbd
Autor:
Diana V. Pastrana, Alberto Peretti, Nicole L. Welch, Cinzia Borgogna, Carlotta Olivero, Raffaele Badolato, Lucia D. Notarangelo, Marisa Gariglio, Peter C. FitzGerald, Carl E. McIntosh, Jesse Reeves, Gabriel J. Starrett, Valery Bliskovsky, Daniel Velez, Isaac Brownell, Robert Yarchoan, Kathleen M. Wyvill, Thomas S. Uldrick, Frank Maldarelli, Andrea Lisco, Irini Sereti, Christopher M. Gonzalez, Elliot J. Androphy, Alison A. McBride, Koenraad Van Doorslaer, Francisco Garcia, Israel Dvoretzky, Joceline S. Liu, Justin Han, Philip M. Murphy, David H. McDermott, Christopher B. Buck
Publikováno v:
mSphere, Vol 3, Iss 6 (2018)
ABSTRACT Several immunodeficiencies are associated with high susceptibility to persistent and progressive human papillomavirus (HPV) infection leading to a wide range of cutaneous and mucosal lesions. However, the HPV types most commonly associated w
Externí odkaz:
https://doaj.org/article/23f9f824fd734e23af44698af7c43b3a
Autor:
Shamik Majumdar, Sergio M. Pontejo, Hemant Jaiswal, Ji-Liang Gao, Abigail Salancy, Elizabeth Stassenko, Hidehiro Yamane, David H. McDermott, Karl Balabanian, Françoise Bachelerie, Philip M. Murphy
Publikováno v:
The Journal of Immunology.
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is an ultra-rare combined primary immunodeficiency disease caused by heterozygous gain-of-function mutations in the chemokine receptor CXCR4. WHIM patients typically present
Autor:
Morgan N. Similuk, Jia Yan, Rajarshi Ghosh, Andrew J. Oler, Luis M. Franco, Michael R. Setzer, Michael Kamen, Colleen Jodarski, Thomas DiMaggio, Joie Davis, Rachel Gore, Leila Jamal, Adrienne Borges, Nicole Gentile, Julie Niemela, Chenery Lowe, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Amy P. Hsu, Celine Hong, Patricia Littel, Bryce A. Seifert, Joshua Milner, Jennifer J. Johnston, Xi Cheng, Zhiwen Li, Daniel Veltri, Ke Huang, Krishnaveni Kaladi, Jason Barnett, Lingwen Zhang, Nikita Vlasenko, Yongjie Fan, Eric Karlins, Satishkumar Ranganathan Ganakammal, Robert Gilmore, Emily Tran, Alvin Yun, Joseph Mackey, Svetlana Yazhuk, Justin Lack, Vasudev Kuram, Wenjia Cao, Susan Huse, Karen Frank, Gary Fahle, Sergio Rosenzweig, Yan Su, SuJin Hwang, Weimin Bi, John Bennett, Ian A. Myles, Suk See De Ravin, Ivan Fuss, Warren Strober, Bibiana Bielekova, Adriana Almeida de Jesus, Raphaela Goldbach-Mansky, Peter Williamson, Kelly Kumar, Caeden Dempsy, Pamela Frischmeyer-Guerrerio, Robin Fisch, Hyejeong Bolan, Dean D. Metcalfe, Hirsh Komarow, Melody Carter, Kirk M. Druey, Irini Sereti, Lesia Dropulic, Amy D. Klion, Paneez Khoury, Elise M. O' Connell, Nicole C. Holland-Thomas, Thomas Brown, David H. McDermott, Philip M. Murphy, Vanessa Bundy, Michael D. Keller, Christine Peng, Helen Kim, Stephanie Norman, Ottavia M. Delmonte, Elizabeth Kang, Helen C. Su, Harry Malech, Alexandra Freeman, Christa Zerbe, Gulbu Uzel, Jenna R.E. Bergerson, V. Koneti Rao, Kenneth N. Olivier, Jonathan J. Lyons, Andrea Lisco, Jeffrey I. Cohen, Michail S. Lionakis, Leslie G. Biesecker, Sandhya Xirasagar, Luigi D. Notarangelo, Steven M. Holland, Magdalena A. Walkiewicz
Publikováno v:
J Allergy Clin Immunol
BACKGROUND: Prospective genetic evaluation of patients at our referral research hospital presents clinical research challenges. OBJECTIVE: This study sought not only a single-gene explanation for participants’ immune-related presentations, but view
Autor:
Ji-Liang Gao, Albert Owusu-Ansah, Alexander Yang, Erin Yim, David H McDermott, Paejonette Jacobs, Shamik Majumdar, Uimook Choi, Colin L Sweeney, Harry L Malech, Philip M Murphy
Publikováno v:
Blood.
WHIM syndrome is an autosomal dominant immunodeficiency disorder caused by gain-of-function mutations in chemokine receptor CXCR4 that promote severe panleukopenia due to bone marrow (BM) retention of mature leukocytes. We previously reported that Cx
Autor:
Elise M. N. Ferré, Alexandra F. Freeman, Jean Ulrick, Eugenia Quiros-Roldan, Amanda Urban, Jessica Durkee-Shock, Monica M. Schmitt, Jenna R.E. Bergerson, Christine Lafeer, Justina Pfister, Deborah Draper, Tom DiMaggio, Luigi D. Notarangelo, Marita Bosticardo, Luisa Imberti, Michael D. Keller, David H. McDermott, Michail S. Lionakis, Dimana Dimitrova, Emily Ricotta, Jeffrey I. Cohen, Steven M. Holland, V. Koneti Rao, Ottavia M. Delmonte, Peter D. Burbelo, Kerry Dobbs, Meng Truong, Dawn Shaw
Publikováno v:
The Journal of Allergy and Clinical Immunology
Background SARS-CoV-2 vaccination is recommended in patients with inborn errors of immunity (IEIs); however, little is known about immunogenicity and safety in these patients. Objective We sought to evaluate the impact of genetic diagnosis, age, and
Autor:
Saber Tadros, Shamik Majumdar, Ottavia Delmonte, Jenna Bergerson, Irene Cortese, David H. McDermott, Jaspal Khillan, Kyoungin Cho, Luigi D. Notarangelo, Philip M. Murphy, Katherine R. Calvo
Publikováno v:
Blood. 140:1650-1651