Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Mary Garofalo"'
Autor:
Cristiane J. Nunes-Santos, HyeSun Kuehn, Brigette Boast, SuJin Hwang, Douglas B. Kuhns, Jennifer Stoddard, Julie E. Niemela, Danielle L. Fink, Stefania Pittaluga, Mones Abu-Asab, John S. Davies, Valarie A. Barr, Tomoki Kawai, Ottavia M. Delmonte, Marita Bosticardo, Mary Garofalo, Magda Carneiro-Sampaio, Raz Somech, Mohammad Gharagozlou, Nima Parvaneh, Lawrence E. Samelson, Thomas A. Fleisher, Anne Puel, Luigi D. Notarangelo, Bertrand Boisson, Jean-Laurent Casanova, Beata Derfalvi, Sergio D. Rosenzweig
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)
Abstract We describe the first cases of germline biallelic null mutations in ARPC5, part of the Arp2/3 actin nucleator complex, in two unrelated patients presenting with recurrent and severe infections, early-onset autoimmunity, inflammation, and dys
Externí odkaz:
https://doaj.org/article/70df5eaacfeb4302a635c2f9e2561b5d
Autor:
Mary GAROFALO, Matthew GRAZİANO
Publikováno v:
Research in Educational Administration and Leadership. 8:88-140
This article examines the relationship between teacher efficacy, leadership, and how they intersect with complex and layered school system dynamics. Using the Listening Guide Method for Qualitative Inquiry (the Listening Guide, Gilligan, 1993), teach
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::acab669a00a912a2340c9480a993114b
https://doi.org/10.30828/real.1072648
https://doi.org/10.30828/real.1072648
Autor:
Vasileios Oikonomou, Sophia Samir, Jennifer Stoddard, Daisuke Yamanaka, Anne Puel, Julie E. Niemela, Michail S. Lionakis, Mary Garofalo, Mélanie Migaud, Shubham Goel, Hye Sun Kuehn, Thomas A. Fleisher, Javier Chinen, Sergio D. Rosenzweig
Publikováno v:
J Clin Immunol
BACKGROUND: CARD9 deficiency is an autosomal recessive primary immunodeficiency underlying increased susceptibility to fungal infection primarily presenting as invasive CNS Candida and/or cutaneous/invasive dermatophyte infections. More recently, a r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92249a86e801742dd723c366829fd2e8
https://doi.org/10.1007/s10875-021-01173-6
https://doi.org/10.1007/s10875-021-01173-6
Autor:
Cedar J. Fowler, Ian N. Moore, Alexandra F. Freeman, Dirk A. Darnell, Mary Garofalo, Mark D. Kieh, Steven M. Holland, Pamela Welch, Arian Laurence, Sundar Ganesan, Portia Gough, John I. Gallin, Kelli W. Williams, Erik D. Anderson, Noah J. Earland, Arhum Saleem, Sandip K. Datta, Ian A. Myles, Inka Sastalla, Kol A. Zarember, Douglas B. Kuhns
Publikováno v:
Journal of Clinical Investigation. 128:3595-3604
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 h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d20b39fede875853222359ed157ee378
https://doi.org/10.1172/jci121486
https://doi.org/10.1172/jci121486
Autor:
Hye Sun, Kuehn, Julie E, Niemela, Karthik, Sreedhara, Jennifer L, Stoddard, Jennifer, Grossman, Christian A, Wysocki, M Teresa, de la Morena, Mary, Garofalo, Jingga, Inlora, Michael P, Snyder, David B, Lewis, Constantine A, Stratakis, Thomas A, Fleisher, Sergio D, Rosenzweig
Publikováno v:
Blood. 130(13)
NFKB2 GOF mutations are associated with CID without endocrine or ectodermal manifestations.As most autosomal-dominant primary immunodeficiencies, NFKB2 GOF changes have incomplete penetrance and variable expressivity.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bcb7b8050d8b3e7ee7baaeeaf3c5e395
https://pubmed.ncbi.nlm.nih.gov/28778864
https://pubmed.ncbi.nlm.nih.gov/28778864
Autor:
John M. Routes, Sergio D. Rosenzweig, Jennifer Stoddard, Mary Hintermeyer, Heather N. Hartman, Julie E. Niemela, Mary Garofalo, James W. Verbsky
Publikováno v:
Journal of Clinical Immunology. 35:11-14
Gain of function (GOF) mutation in the p110δ catalytic subunit of the phosphatidylinositol-3-OH kinase (PIK3CD) is the cause of a primary immunodeficiency (PID) characterized by recurrent sinopulmonary infections and lymphoproliferation. We describe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80ba34b8bbad31508273622ff9a1eef0
https://doi.org/10.1007/s10875-014-0109-1
https://doi.org/10.1007/s10875-014-0109-1
Autor:
Mohammed A. Sadat, Susan Moir, Tae-Wook Chun, Paolo Lusso, Gerardo Kaplan, Lynne Wolfe, Matthew J. Memoli, Miao He, Hugo Vega, Leo J.Y. Kim, Yan Huang, Nadia Hussein, Elma Nievas, Raquel Mitchell, Mary Garofalo, Aaron Louie, Derek C. Ireland, Claire Grunes, Raffaello Cimbro, Vyomesh Patel, Genevieve Holzapfel, Daniel Salahuddin, Tyler Bristol, David Adams, Beatriz E. Marciano, Madhuri Hegde, Yuxing Li, Katherine R. Calvo, Jennifer Stoddard, J. Shawn Justement, Jerome Jacques, Debra A. Long Priel, Danielle Murray, Peter Sun, Douglas B. Kuhns, Cornelius F. Boerkoel, John A. Chiorini, Giovanni Di Pasquale, Daniela Verthelyi, Sergio D. Rosenzweig
Publikováno v:
New England Journal of Medicine. 370:1615-1625
Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a699d9c38f36980f0ddcb70ddadea948
https://doi.org/10.1056/nejmoa1302846
https://doi.org/10.1056/nejmoa1302846
Autor:
Pachai Natarajan, Angelia Viley, Uimook Choi, Lela Kardava, Sherry Koontz, Linhong Li, Narda Theobald-Whiting, Janet Lee, Harry L. Malech, Colin L. Sweeney, Ling Su, Jessica Chu, Xiaolin Wu, Mary Garofalo, Kol A. Zarember, Suk See De Ravin, Cornell Allen, Madhusudan Peshwa, Douglas B. Kuhns, Susan Moir
Publikováno v:
Science translational medicine. 9(372)
Targeted gene therapy has been hampered by the inability to correct mutations in stem cells that can reconstitute the immune system after transplant into patients. De Ravin et al . now report that CRISPR, a DNA editing technology, corrected blood ste
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a274019432b08c8b389eac4dd10cd6b9
https://pubmed.ncbi.nlm.nih.gov/28077679
https://pubmed.ncbi.nlm.nih.gov/28077679
Autor:
Sandra Anaya-O'Brien, Debra A. Long Priel, Harry L. Malech, Qian Liu, Corin Kelly, Diane Hilligoss, Patricia Littel, Douglas B. Kuhns, Rosamma DeCastro, Martha Marquesen, Jean Ulrick, Philip M. Murphy, Joao Oliveira Filho, Mary Garofalo, Scott R. Penzak, Nana Kwatemaa, David H. McDermott, Thomas A. Fleisher
Publikováno v:
Blood. 118:4957-4962
WHIM syndrome is a rare congenital immunodeficiency disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexis (neutropenia because of impaired egress from the BM); most patients also have severe panleukopenia. Because WHIM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40ab60e5d5de4f7d73ef863b1d1a74b1
https://doi.org/10.1182/blood-2011-07-368084
https://doi.org/10.1182/blood-2011-07-368084
Autor:
Philip M. Murphy, Qian Liu, Dianne Hilligoss, Jean Ulrick, Corin Kelly, Joseph Lopez, Mary Garofalo, Francis Deng, Haoqian Chen, Rosamma DeCastro, Sandra Anaya-O'Brien, Harry L. Malech, Martha Marquesen, Teresa Ojode, David H. McDermott, Nana Kwatemaa
Publikováno v:
Journal of Cellular and Molecular Medicine
WHIM is an acronym for a rare immunodeficiency syndrome (OMIM #193670) caused by autosomal dominant mutations truncating the C-terminus of the chemokine receptor CXC chemokine receptor 4 (CXCR4). WHIM mutations may potentiate CXCR4 signalling, sugges
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d26355bf3da4a45bde4b203692eb6ae
https://doi.org/10.1111/j.1582-4934.2010.01210.x
https://doi.org/10.1111/j.1582-4934.2010.01210.x