Gene Therapies for Primary Immune Deficiencies

Autor: Lisa A. Kohn, Donald B. Kohn

Publikováno v: Frontiers in Immunology, Vol 12 (2021)

Gene therapy is an innovative treatment for Primary Immune Deficiencies (PIDs) that uses autologous hematopoietic stem cell transplantation to deliver stem cells with added or edited versions of the missing or malfunctioning gene that causes the PID.

Externí odkaz: https://doaj.org/article/299372c413db47b7a977a9d916035a76

Novel Compound Heterozygote Variations in FADD Identified to Cause FAS-Associated Protein with Death Domain Deficiency

Autor: Lisa A. Kohn, Joseph Long, Edward C. Trope, Caroline Y. Kuo

Publikováno v: Journal of Clinical Immunology

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5411f97551c6599b07266415c847799e
http://europepmc.org/articles/PMC7253512

Prevention of Cytomegalovirus (CMV) Transmission via Maternal Breast Milk to an Infant with Severe Combined Immunodeficiency (SCID) using Kimie: New Compact Breast Milk Pasteurizer

Autor: Lisa A. Kohn, Heather Horowitz, Manish J. Butte, Uday P. Devaskar

Publikováno v: Journal of Pediatrics & Neonatology. 3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::22e445d0d1e312f841b6b06881514bbc
https://doi.org/10.33425/2689-1085.1025

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Autor: Vivien, Béziat, Simon J, Tavernier, Yin-Huai, Chen, Cindy S, Ma, Marie, Materna, Arian, Laurence, Jens, Staal, Dominik, Aschenbrenner, Lisa, Roels, Lisa, Worley, Kathleen, Claes, Lisa, Gartner, Lisa A, Kohn, Marieke, De Bruyne, Klaus, Schmitz-Abe, Louis-Marie, Charbonnier, Sevgi, Keles, Justine, Nammour, Natasha, Vladikine, Majistor Raj Luxman, Maglorius Renkilaraj, Yoann, Seeleuthner, Mélanie, Migaud, Jérémie, Rosain, Mohamed, Jeljeli, Bertrand, Boisson, Eva, Van Braeckel, Jill A, Rosenfeld, Hongzheng, Dai, Lindsay C, Burrage, David R, Murdock, Bart N, Lambrecht, Véronique, Avettand-Fenoel, Tiphanie P, Vogel, Charles R, Esther, Sule, Haskologlu, Figen, Dogu, Peter, Ciznar, David, Boutboul, Marie, Ouachée-Chardin, Jean, Amourette, Marie-Noëlle, Lebras, Clément, Gauvain, Colas, Tcherakian, Aydan, Ikinciogullari, Rudi, Beyaert, Laurent, Abel, Joshua D, Milner, Bodo, Grimbacher, Louis-Jean, Couderc, Manish J, Butte, Alexandra F, Freeman, Émilie, Catherinot, Claire, Fieschi, Talal A, Chatila, Stuart G, Tangye, Holm H, Uhlig, Filomeen, Haerynck, Jean-Laurent, Casanova, Anne, Puel

Publikováno v: Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2020, 217 (6), ⟨10.1084/jem.20191804⟩
The Journal of Experimental Medicine

International audience; Autosomal dominant hyper-IgE syndrome (AD-HIES) is typically caused by dominant-negative (DN) STAT3 mutations. Patients suffer from cold staphylococcal lesions and mucocutaneous candidiasis, severe allergy, and skeletal abnorm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::986f4b8ecddc725ede6ea398366d425a
https://hal.uvsq.fr/hal-02549533

Systematic screens of a Candida albicans homozygous deletion library decouple morphogenetic switching and pathogenicity

Autor: Lisa A Kohn, Victoria Chen, Sarah French, Alexander D. Johnson, Suzanne M. Noble

Publikováno v: Nature genetics

Candida albicans is the most common cause of serious fungal disease in humans. Creation of isogenic null mutants of this diploid organism, which requires sequential gene targeting, allows dissection of virulence mechanisms. Published analyses of such

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9a2fca71748f052c13391b7e6575b27
https://doi.org/10.1038/ng.605