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Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects
Schwab, Charlotte, Gabrysch, Annemarie, Olbrich, Peter, Patiño, Virginia, Warnatz, Klaus, Wolff, Daniel, Hoshino, Akihiro, Kobayashi, Masao, Imai, Kohsuke, Takagi, Masatoshi, Dybedal, Ingunn, Haddock, Jamanda A., Sansom, David M., Lucena, Jose M., Seidl, Maximilian, Schmitt-Graeff, Annette, Reiser, Veronika, Emmerich, Florian, Frede, Natalie, Bulashevska, Alla, Salzer, Ulrich, Schubert, Desirée, Hayakawa, Seiichi, Okada, Satoshi, Kanariou, Maria, Kucuk, Zeynep Yesim, Chapdelaine, Hugo, Petruzelkova, Lenka, Sumnik, Zdenek, Sediva, Anna, Slatter, Mary, Arkwright, Peter D., Cant, Andrew, Lorenz, Hanns-Martin, Giese, Thomas, Lougaris, Vassilios, Plebani, Alessandro, Price, Christina, Sullivan, Kathleen E., Moutschen, Michel, Litzman, Jiri, Freiberger, Tomas, van de Veerdonk, Frank L., Recher, Mike, Albert, Michael H., Hauck, Fabian, Seneviratne, Suranjith, Pachlopnik Schmid, Jana, Kolios, Antonios, Unglik, Gary, Klemann, Christian, Speckmann, Carsten, Ehl, Stephan, Leichtner, Alan, Blumberg, Richard, Franke, Andre, Snapper, Scott, Zeissig, Sebastian, Cunningham-Rundles, Charlotte, Giulino-Roth, Lisa, Elemento, Olivier, Dückers, Gregor, Niehues, Tim, Fronkova, Eva, Kanderová, Veronika, Platt, Craig D., Chou, Janet, Chatila, Talal A., Geha, Raif, McDermott, Elizabeth, Bunn, Su, Kurzai, Monika, Schulz, Ansgar, Alsina, Laia, Casals, Ferran, Deyà-Martinez, Angela, Hambleton, Sophie, Kanegane, Hirokazu, Taskén, Kjetil, Neth, Olaf, Grimbacher, Bodo
Published in Journal of allergy and clinical immunology (01.12.2018)
Published in Journal of allergy and clinical immunology (01.12.2018)
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Comparison of predicted and actual consequences of missense mutations
Miosge, Lisa A., Field, Matthew A., Sontani, Yovina, Cho, Vicky, Johnson, Simon, Palkova, Anna, Balakishnan, Bhavani, Liang, Rong, Zhang, Yafei, Lyon, Stephen, Beutler, Bruce, Whittle, Belinda, Bertram, Edward M., Enders, Anselm, Goodnow, Christopher C., Andrews, T. Daniel
Published in Proceedings of the National Academy of Sciences - PNAS (15.09.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (15.09.2015)
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Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage
Angulo, Ivan, Vadas, Oscar, Garçon, Fabien, Banham-Hall, Edward, Plagnol, Vincent, Leahy, Timothy R., Baxendale, Helen, Coulter, Tanya, Curtis, James, Wu, Changxin, Blake-Palmer, Katherine, Perisic, Olga, Smyth, Deborah, Maes, Mailis, Fiddler, Christine, Juss, Jatinder, Cilliers, Deirdre, Markelj, Gašper, Chandra, Anita, Farmer, George, Kielkowska, Anna, Clark, Jonathan, Kracker, Sven, Debré, Marianne, Picard, Capucine, Pellier, Isabelle, Jabado, Nada, Morris, James A., Barcenas-Morales, Gabriela, Fischer, Alain, Stephens, Len, Hawkins, Phillip, Barrett, Jeffrey C., Abinun, Mario, Clatworthy, Menna, Durandy, Anne, Doffinger, Rainer, Chilvers, Edwin R., Cant, Andrew J., Kumararatne, Dinakantha, Okkenhaug, Klaus, Williams, Roger L., Condliffe, Alison, Nejentsev, Sergey
Published in Science (American Association for the Advancement of Science) (15.11.2013)
Published in Science (American Association for the Advancement of Science) (15.11.2013)
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Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
Lucas, Carrie L., Zhang, Yu, Venida, Anthony, Wang, Ying, Hughes, Jason, McElwee, Joshua, Butrick, Morgan, Matthews, Helen, Price, Susan, Biancalana, Matthew, Wang, Xiaochuan, Richards, Michael, Pozos, Tamara, Barlan, Isil, Ozen, Ahmet, Rao, V. Koneti, Su, Helen C., Lenardo, Michael J.
Published in The Journal of experimental medicine (15.12.2014)
Published in The Journal of experimental medicine (15.12.2014)
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PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
Stray-Pedersen, Asbjørg, Backe, Paul H., Sorte, Hanne S., Mørkrid, Lars, Chokshi, Niti Y., Erichsen, Hans Christian, Gambin, Tomasz, Elgstøen, Katja B.P., Bjørås, Magnar, Wlodarski, Marcin W., Krüger, Marcus, Jhangiani, Shalini N., Muzny, Donna M., Patel, Ankita, Raymond, Kimiyo M., Sasa, Ghadir S., Krance, Robert A., Martinez, Caridad A., Abraham, Shirley M., Speckmann, Carsten, Ehl, Stephan, Hall, Patricia, Forbes, Lisa R., Merckoll, Else, Westvik, Jostein, Nishimura, Gen, Rustad, Cecilie F., Abrahamsen, Tore G., Rønnestad, Arild, Osnes, Liv T., Egeland, Torstein, Rødningen, Olaug K., Beck, Christine R., Boerwinkle, Eric A., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., Lausch, Ekkehart, Hanson, I. Celine
Published in American journal of human genetics (03.07.2014)
Published in American journal of human genetics (03.07.2014)
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Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies
Ma, Cindy S., Wong, Natalie, Rao, Geetha, Avery, Danielle T., Torpy, James, Hambridge, Thomas, Bustamante, Jacinta, Okada, Satoshi, Stoddard, Jennifer L., Deenick, Elissa K., Pelham, Simon J., Payne, Kathryn, Boisson-Dupuis, Stéphanie, Puel, Anne, Kobayashi, Masao, Arkwright, Peter D., Kilic, Sara Sebnem, El Baghdadi, Jamila, Nonoyama, Shigeaki, Minegishi, Yoshiyuki, Mahdaviani, Seyed Alireza, Mansouri, Davood, Bousfiha, Aziz, Blincoe, Annaliesse K., French, Martyn A., Hsu, Peter, Campbell, Dianne E., Stormon, Michael O., Wong, Melanie, Adelstein, Stephen, Smart, Joanne M., Fulcher, David A., Cook, Matthew C., Phan, Tri Giang, Stepensky, Polina, Boztug, Kaan, Kansu, Aydan, İkincioğullari, Aydan, Baumann, Ulrich, Beier, Rita, Roscioli, Tony, Ziegler, John B., Gray, Paul, Picard, Capucine, Grimbacher, Bodo, Warnatz, Klaus, Holland, Steven M., Casanova, Jean-Laurent, Uzel, Gulbu, Tangye, Stuart G.
Published in Journal of allergy and clinical immunology (01.10.2015)
Published in Journal of allergy and clinical immunology (01.10.2015)
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Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)
Schubert, Desirée, Klein, Marie-Christine, Hassdenteufel, Sarah, Caballero-Oteyza, Andrés, Yang, Linlin, Proietti, Michele, Bulashevska, Alla, Kemming, Janine, Kühn, Johannes, Winzer, Sandra, Rusch, Stephan, Fliegauf, Manfred, Schäffer, Alejandro A., Pfeffer, Stefan, Geiger, Roger, Cavalié, Adolfo, Cao, Hongzhi, Yang, Fang, Li, Yong, Rizzi, Marta, Eibel, Hermann, Kobbe, Robin, Marks, Amy L., Peppers, Brian P., Hostoffer, Robert W., Puck, Jennifer M., Zimmermann, Richard, Grimbacher, Bodo
Published in Journal of allergy and clinical immunology (01.04.2018)
Published in Journal of allergy and clinical immunology (01.04.2018)
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Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes
Kaustio, Meri, Haapaniemi, Emma, Göös, Helka, Hautala, Timo, Park, Giljun, Syrjänen, Jaana, Einarsdottir, Elisabet, Sahu, Biswajyoti, Kilpinen, Sanna, Rounioja, Samuli, Fogarty, Christopher L., Glumoff, Virpi, Kulmala, Petri, Katayama, Shintaro, Tamene, Fitsum, Trotta, Luca, Morgunova, Ekaterina, Krjutškov, Kaarel, Nurmi, Katariina, Eklund, Kari, Lagerstedt, Anssi, Helminen, Merja, Martelius, Timi, Mustjoki, Satu, Taipale, Jussi, Saarela, Janna, Kere, Juha, Varjosalo, Markku, Seppänen, Mikko
Published in Journal of allergy and clinical immunology (01.09.2017)
Published in Journal of allergy and clinical immunology (01.09.2017)
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Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases
Al-Mousa, Hamoud, Abouelhoda, Mohamed, Monies, Dorota M., Al-Tassan, Nada, Al-Ghonaium, Abdulaziz, Al-Saud, Bandar, Al-Dhekri, Hasan, Arnaout, Rand, Al-Muhsen, Saleh, Ades, Nazema, Elshorbagi, Sahar, Al Gazlan, Sulaiman, Sheikh, Farrukh, Dasouki, Majed, El-Baik, Lina, Elamin, Tanzeil, Jaber, Amal, Kheir, Omnia, El-Kalioby, Mohamed, Subhani, Shazia, Al Idrissi, Eman, Al-Zahrani, Mofareh, Alhelale, Maryam, Alnader, Noukha, Al-Otaibi, Afaf, Kattan, Rana, Al Abdelrahman, Khalid, Al Breacan, Muna M., Bin Humaid, Faisal S., Wakil, Salma Majid, Alzayer, Fadi, Al-Dusery, Haya, Faquih, Tariq, Al-Hissi, Safa, Meyer, Brian F., Hawwari, Abbas
Published in Journal of allergy and clinical immunology (01.06.2016)
Published in Journal of allergy and clinical immunology (01.06.2016)
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BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency
Afzali, Behdad, Grönholm, 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
Published in Nature immunology (01.07.2017)
Published in Nature immunology (01.07.2017)
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IRF8 Mutations and Human Dendritic-Cell Immunodeficiency
Hambleton, Sophie, Salem, Sandra, Bustamante, Jacinta, Bigley, Venetia, Boisson-Dupuis, Stéphanie, Azevedo, Joana, Fortin, Anny, Haniffa, Muzlifah, Ceron-Gutierrez, Lourdes, Bacon, Chris M, Menon, Geetha, Trouillet, Céline, McDonald, David, Carey, Peter, Ginhoux, Florent, Alsina, Laia, Zumwalt, Timothy J, Kong, Xiao-Fei, Kumararatne, Dinakantha, Butler, Karina, Hubeau, Marjorie, Feinberg, Jacqueline, Al-Muhsen, Saleh, Cant, Andrew, Abel, Laurent, Chaussabel, Damien, Doffinger, Rainer, Talesnik, Eduardo, Grumach, Anete, Duarte, Alberto, Abarca, Katia, Moraes-Vasconcelos, Dewton, Burk, David, Berghuis, Albert, Geissmann, Frédéric, Collin, Matthew, Casanova, Jean-Laurent, Gros, Philippe
Published in The New England journal of medicine (14.07.2011)
Published in The New England journal of medicine (14.07.2011)
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Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae
Tuovinen, Elina A., Kuismin, Outi, Soikkonen, Leila, Martelius, Timi, Kaustio, Meri, Hämäläinen, Sari, Viskari, Hanna, Syrjänen, Jaana, Wartiovaara-Kautto, Ulla, Eklund, Kari K., Saarela, Janna, Varjosalo, Markku, Kere, Juha, Hautala, Timo, Seppänen, Mikko R.J.
Published in Clinical immunology (Orlando, Fla.) (01.01.2023)
Published in Clinical immunology (Orlando, Fla.) (01.01.2023)
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Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects
Stepensky, Polina, Keller, Baerbel, Buchta, Mary, Kienzler, Anne-Kathrin, Elpeleg, Orly, Somech, Raz, Cohen, Sivan, Shachar, Idit, Miosge, Lisa A., Schlesier, Michael, Fuchs, Ilka, Enders, Anselm, Eibel, Hermann, Grimbacher, Bodo, Warnatz, Klaus
Published in Journal of allergy and clinical immunology (01.02.2013)
Published in Journal of allergy and clinical immunology (01.02.2013)
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Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions
Ombrello, Michael J, Remmers, Elaine F, Sun, Guangping, Freeman, Alexandra F, Datta, Shrimati, Torabi-Parizi, Parizad, Subramanian, Naeha, Bunney, Tom D, Baxendale, Rhona W, Martins, Marta S, Romberg, Neil, Komarow, Hirsh, Aksentijevich, Ivona, Kim, Hun Sik, Ho, Jason, Cruse, Glenn, Jung, Mi-Yeon, Gilfillan, Alasdair M, Metcalfe, Dean D, Nelson, Stanley F, Nelson, Celeste, O'Brien, Michelle, Wisch, Laura, Stone, Kelly, Douek, Daniel C, Gandhi, Chhavi, Wanderer, Alan A, Lee, Hane, Shianna, Kevin V, Cirulli, Elizabeth T, Goldstein, David B, Long, Eric O, Moir, Susan, Meffre, Eric, Holland, Steven M, Kastner, Daniel L, Katan, Matilda, Hoffman, Hal M, Milner, Joshua D
Published in The New England journal of medicine (26.01.2012)
Published in The New England journal of medicine (26.01.2012)
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Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy
Göös, Helka, Fogarty, Christopher L., Sahu, Biswajyoti, Plagnol, Vincent, Rajamäki, Kristiina, Nurmi, Katariina, Liu, Xiaonan, Einarsdottir, Elisabet, Jouppila, Annukka, Pettersson, Tom, Vihinen, Helena, Krjutskov, Kaarel, Saavalainen, Päivi, Järvinen, Asko, Muurinen, Mari, Greco, Dario, Scala, Giovanni, Curtis, James, Nordström, Dan, Flaumenhaft, Robert, Vaarala, Outi, Kovanen, Panu E., Keskitalo, Salla, Ranki, Annamari, Kere, Juha, Lehto, Markku, Notarangelo, Luigi D., Nejentsev, Sergey, Eklund, Kari K., Varjosalo, Markku, Taipale, Jussi, Seppänen, Mikko R.J.
Published in Journal of allergy and clinical immunology (01.11.2019)
Published in Journal of allergy and clinical immunology (01.11.2019)
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Effects of Complement C4 Gene Copy Number Variations, Size Dichotomy, and C4A Deficiency on Genetic Risk and Clinical Presentation of Systemic Lupus Erythematosus in East Asian Populations
Yih Chen, Ji, Ling Wu, Yee, Yin Mok, Mo, Jan Wu, Yeong‐Jian, Lintner, Katherine E., Wang, Chin‐Man, Chung, Erwin K., Yang, Yan, Zhou, Bi, Wang, Huanyu, Yu, Denise J. H. C., Alhomosh, Alaaedin, Jones, Karla, Spencer, Charles H., Nagaraja, Haikady N., Lung Lau, Yu, Lau, Chak‐Sing, Yung Yu, C.
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.06.2016)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.06.2016)
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An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation
Le Guen, Tangui, Touzot, Fabien, André-Schmutz, Isabelle, Lagresle-Peyrou, Chantal, France, Benoit, Kermasson, Laetitia, Lambert, Nathalie, Picard, Capucine, Nitschke, Patrick, Carpentier, Wassila, Bole-Feysot, Christine, Lim, Annick, Cavazzana, Marina, Callebaut, Isabelle, Soulier, Jean, Jabado, Nada, Fischer, Alain, de Villartay, Jean-Pierre, Revy, Patrick
Published in Journal of allergy and clinical immunology (01.12.2015)
Published in Journal of allergy and clinical immunology (01.12.2015)
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Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias
Chen, Rui, Giliani, Silvia, Lanzi, Gaetana, Mias, George I., Lonardi, Silvia, Dobbs, Kerry, Manis, John, Im, Hogune, Gallagher, Jennifer E., Phanstiel, Douglas H., Euskirchen, Ghia, Lacroute, Philippe, Bettinger, Keith, Moratto, Daniele, Weinacht, Katja, Montin, Davide, Gallo, Eleonora, Mangili, Giovanna, Porta, Fulvio, Notarangelo, Lucia D., Pedretti, Stefania, Al-Herz, Waleed, Alfahdli, Wasmi, Comeau, Anne Marie, Traister, Russell S., Pai, Sung-Yun, Carella, Graziella, Facchetti, Fabio, Nadeau, Kari C., Snyder, Michael, Notarangelo, Luigi D.
Published in Journal of allergy and clinical immunology (01.09.2013)
Published in Journal of allergy and clinical immunology (01.09.2013)
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A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy
Spivak, Ilia, Lev, Atar, Simon, Amos J., Barel, Ortal, Somekh, Ido, Somech, Raz
Published in Immunogenetics (New York) (01.12.2025)
Published in Immunogenetics (New York) (01.12.2025)
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