Not logged inNovel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia
Daddali, Ravindra; Kettunen, Kaisa; Turunen, Tanja; Knox, Ainsley V. C.; Laine, Pia; Chowdhury, Iftekhar; Vanttinen, Markku; Mamia, Nanni; Stiegler, Amy L.; Boggon, Titus J.; Kere, Juha; Romberg, Neil; Seppanen, Mikko R. J.; Varjosalo, Markku; Martelius, Timi; Gronholm, Juha .png)
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SaveA deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusionOchoa, Sebastian; Hsu, Amy P.; Oler, Andrew J.; Kumar, Dhaneshwar; Chauss, Daniel; van Hamburg, Jan Piet; van Laar, Gustaaf G.; Oikonomou, Vasileios; Ganesan, Sundar; Ferre, Elise M. N.; Schmitt, Monica M.; Dimaggio, Tom; Barber, Princess; Constantine, Gregory M.; Rosen, Lindsey B.; Auwaerter, Paul G.; Gandhi, Bhumika; Miller, Jennifer L.; Eisenberg, Rachel; Rubinstein, Arye; Schussler, Edith; Balliu, Erjola; Shashi, Vandana; Neth, Olaf; Olbrich, Peter; Le, Kim My; Mamia, Nanni; Laakso, Saila; Nevalainen, Pasi I.; Groenholm, Juha; Seppaenen, Mikko R. J.; Boon, Louis; Uzel, Gulbu; Franco, Luis M.; Heller, Theo; Winer, Karen K.; Ghosh, Rajarshi; Seifert, Bryce A.; Walkiewicz, Magdalena; Notarangelo, Luigi D.; Zhou, Qing; Askentijevich, Ivona; Gahl, William; Dalgard, Cliffton L.; Perera, Lalith; Afzali, Behdad; Tas, Sander W.; Holland, Steven M.; Lionakis, Michail S. Share Save Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated SignalingTuovinen, Elina A.; Poysti, Sakari; Hamdan, Firas; Le, Kim My; Keskitalo, Salla; Turunen, Tanja; Minier, Lea; Mamia, Nanni; Heiskanen, Kaarina; Varjosalo, Markku; Cerullo, Vincenzo; Kere, Juha; Seppanen, Mikko R. J.; Hanninen, Arno; Gronholm, Juha Share Save Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined ImmunodeficiencyTuovinen, Elina A.; Gronholm, Juha; Ohman, Tiina; Poysti, Sakari; Toivonen, Raine; Kreutzman, Anna; Heiskanen, Kaarina; Trotta, Luca; Toiviainen-Salo, Sanna; Routes, John M.; Verbsky, James; Mustjoki, Satu; Saarela, Janna; Kere, Juha; Varjosalo, Markku; Hanninen, Arno; Seppanen, Mikko R. J. Share Save STAT5B: A Differential Regulator of the Life and Death of CD4+ Effector Memory T CellsMajri, Sonia S.; Fritz, Jill M.; Villarino, Alejandro V.; Zheng, Lixin; Kanellopoulou, Chrysi; Chaigne-Delalande, Benjamin; Gronholm, Juha; Niemela, Julie E.; Afzali, Behdad; Biancalana, Matthew; Pittaluga, Stefania; Sun, Ashleigh; Cohen, Jose L.; Holland, Steven M.; O'Shea, John J.; Uzel, Gulbu; Lenardo, Michael J. Share Save BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiencyAfzali, Behdad; Gronholm, Juha; Vandrovcova, Jana; O'Brien, Charlotte; Sun, Hong-Wei; Vanderleyden, Ine; Davis, Fred P.; Khoder, Ahmad; Zhang, Yu; Hegazy, Ahmed N.; Villarino, Alejandro V.; Palmer, Ira W.; Kaufman, Joshua; Watts, Norman R.; Kazemian, Majid; Kamenyeva, Olena; Keith, Julia; Sayed, Anwar; Kasperaviciute, Dalia; Mueller, Michael; Hughes, Jason D.; Fuss, Ivan J.; Sadiyah, Mohammed F.; Montgomery-Recht, Kim; McElwee, Joshua; Restifo, Nicholas P.; Strober, Warren; Linterman, Michelle A.; Wingfield, Paul T.; Uhlig, Holm H.; Roychoudhuri, Rahul; Aitman, Timothy J.; Kelleher, Peter; Lenardo, Michael J.; O'Shea, John J.; Cooper, Nichola; Laurence, Arian D. J. Share Save Share Save Share Save Share Save 
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