PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants

Autor: Abbott, Jordan K., Aldave Becerra, Juan Carlos, Allenspach, Eric J., Assing, Kristian, Atkinson, T. Prescott, Bargir, Umair A., Baxter, Sarah K., Bergerson, Jenna R.E., Bista, Ranjan, Blanche, Stephane, Buckley, Lenore M., Butte, Manish, Carcamo, Benjamin, Chandrakala, Shanmukhaiah, Chen, Karin, Chervinskiy, Sheva, Chinn, Ivan K., Chong, Hey J., Coffey, Kara E., Copland, Andrew P., Cowen, Edward W., Cros, Guilhem, De Bruycker, Jean Jacques, Teresa de la Morena, Maria, Ehlayel, Mohammed, Forbes Satter, Lisa R., Gelfand, Erwin W., Gilliaux, Olivier, Glover, Sara C., Gorman, Mark, Griffin, Thomas A., Grimbacher, Bodo, Gru, Alejandro A., Haddad, Elie, Hadjadj, Jerome, Hajjar, Joud, Hauck, Fabian, Hautala, Timo, Holland, Steven M., Hsieh, Elena W.Y., Hsu, Florence Ida, Jacquemin, Emmanuel, Jindal, Ankur Kumar, Kahn, Stacy A., Keller, Michael D., Kobayashi, Roger H., Krupski, Christa, Larkin, Allyson, Lawrence, Monica G., Madkaikar, Manisha, Malphettes, Marion, Martelius, Timi, Mehta, Mehek, Metcalfe, Dean D., Meyts, Isabelle, Nannapaneni, Naveen, Ocejo Vinyals, J. Gonzalo, Olivier, Kenneth, Ombrello, Amanda K., Orange, Jordan S., Rabinovitch, Nathan, Rauscher, Christine K., Redfern, Ann, Reynolds, Paul R., Rieux-Laucat, Frederic, Secord, Elizabeth, Seeborg, Filiz O., Seppänen, Mikko R.J., Sereti, Irini, Shin, Daniel S., Shin, Junghee J., Snapper, Scott B., Suri, Deepti, Tangcheewinsirikul, Sirikarn, Thatayatikom, Akaluck, Torgerson, Troy, Touzot, Fabien, Uzel, Gulbu, Varjosalo, Markku, Vasconcelos, Dewton F.P., von Bernuth, Horst, Walsh, Thomas, Walter, Jolan E., Ward, Brant R., Wittkowski, Helmut, Wysocki, Christian A., Baysac, Kathleen, Sun, Guangping, Nakano, Hiroto, Schmitz, Elizabeth G., Cruz, Anthony C., Fisher, Charles, Bailey, Alexis C., Mace, Emily, Milner, Joshua D., Ombrello, Michael J.

Publikováno v: In The Journal of Allergy and Clinical Immunology January 2024 153(1):230-242

Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management

Autor: Baxter, Sarah K., Walsh, Tom, Casadei, Silvia, Eckert, Mary M., Allenspach, Eric J., Hagin, David, Segundo, Gesmar, Lee, Ming K., Gulsuner, Suleyman, Shirts, Brian H., Sullivan, Kathleen E., Keller, Michael D., Torgerson, Troy R., King, Mary-Claire

Publikováno v: In The Journal of Allergy and Clinical Immunology January 2022 149(1):327-339

Multiplexed Functional Assessment of Genetic Variants in CARD11

Autor: Meitlis, Iana, Allenspach, Eric J., Bauman, Bradly M., Phan, Isabelle Q., Dabbah, Gina, Schmitt, Erica G., Camp, Nathan D., Torgerson, Troy R., Nickerson, Deborah A., Bamshad, Michael J., Hagin, David, Luthers, Christopher R., Stinson, Jeffrey R., Gray, Jessica, Lundgren, Ingrid, Church, Joseph A., Butte, Manish J., Jordan, Mike B., Aceves, Seema S., Schwartz, Daniella M., Milner, Joshua D., Schuval, Susan, Skoda-Smith, Suzanne, Cooper, Megan A., Starita, Lea M., Rawlings, David J., Snow, Andrew L., James, Richard G.

Publikováno v: In The American Journal of Human Genetics 3 December 2020 107(6):1029-1043

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype

Autor: Tirosh, Irit, Yamazaki, Yasuhiro, Frugoni, Francesco, Ververs, Francesca A., Allenspach, Eric J., Zhang, Yu, Burns, Siobhan, Al-Herz, Waleed, Noroski, Lenora, Walter, Jolan E., Gennery, Andrew R., van der Burg, Mirjam, Notarangelo, Luigi D., Lee, Yu Nee

Publikováno v: In The Journal of Allergy and Clinical Immunology February 2019 143(2):726-735

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