Loading…
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)
Get full text
Journal Article
Web Resource
Loading…
Effective “activated PI3Kδ syndrome”–targeted therapy with the PI3Kδ inhibitor leniolisib
Rao, V. Koneti, Webster, Sharon, Dalm, Virgil A.S.H., Šedivá, Anna, van Hagen, P. Martin, Holland, Steven, Rosenzweig, Sergio D., Christ, Andreas D., Sloth, Birgitte, Cabanski, Maciej, Joshi, Aniket D., de Buck, Stefan, Doucet, Julie, Guerini, Danilo, Kalis, Christoph, Pylvaenaeinen, Ilona, Soldermann, Nicolas, Kashyap, Anuj, Uzel, Gulbu, Lenardo, Michael J., Patel, Dhavalkumar D., Lucas, Carrie L., Burkhart, Christoph
Published in Blood (23.11.2017)
Published in Blood (23.11.2017)
Get full text
Journal Article
Loading…
Efficacy and Safety of Subcutaneous Belimumab in Systemic Lupus Erythematosus: A Fifty‐Two–Week Randomized, Double‐Blind, Placebo‐Controlled Study
Stohl, William, Schwarting, Andreas, Okada, Masato, Scheinberg, Morton, Doria, Andrea, Hammer, Anne E., Kleoudis, Christi, Groark, James, Bass, Damon, Fox, Norma Lynn, Roth, David, Gordon, David
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.05.2017)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.05.2017)
Get full text
Journal Article
Loading…
Loading…
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)
Get full text
Journal Article
Loading…
Association between serum IgG concentrations and the incidence of infections in patients with chronic lymphocytic leukemia and secondary immunodeficiency under treatment with Privigen
Otremba, Burkhard, Haslbauer, Ferdinand, Reiser, Marcel, Weide, Rudolf, Obermeier, Michael, Pfründer, Dietmar
Published in International journal of clinical pharmacology and therapeutics (01.06.2024)
Published in International journal of clinical pharmacology and therapeutics (01.06.2024)
Get full text
Journal Article
Loading…
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)
Get full text
Journal Article
Loading…
Loading…
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)
Get full text
Journal Article
Loading…
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)
Get full text
Journal Article
Loading…
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator–dependent autoimmunity
Mathieu, Anne-Laure, Verronese, Estelle, Rice, Gillian I., Fouyssac, Fanny, Bertrand, Yves, Picard, Capucine, Chansel, Marie, Walter, Jolan E., Notarangelo, Luigi D., Butte, Manish J., Nadeau, Kari Christine, Csomos, Krisztian, Chen, David J., Chen, Karin, Delgado, Ana, Rigal, Chantal, Bardin, Christine, Schuetz, Catharina, Moshous, Despina, Reumaux, Héloïse, Plenat, François, Phan, Alice, Zabot, Marie-Thérèse, Balme, Brigitte, Viel, Sébastien, Bienvenu, Jacques, Cochat, Pierre, van der Burg, Mirjam, Caux, Christophe, Kemp, E. Helen, Rouvet, Isabelle, Malcus, Christophe, Méritet, Jean-Francois, Lim, Annick, Crow, Yanick J., Fabien, Nicole, Ménétrier-Caux, Christine, De Villartay, Jean-Pierre, Walzer, Thierry, Belot, Alexandre
Published in Journal of allergy and clinical immunology (01.06.2015)
Published in Journal of allergy and clinical immunology (01.06.2015)
Get full text
Journal Article
Loading…
Immunologic features of Cornelia de Lange syndrome
Jyonouchi, Soma, Orange, Jordan, Sullivan, Kathleen E, Krantz, Ian, Deardorff, Matthew
Published in Pediatrics (Evanston) (01.08.2013)
Published in Pediatrics (Evanston) (01.08.2013)
Get more information
Journal Article
Loading…
Loading…
Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity
Gambineri, Eleonora, Perroni, Lucia, Passerini, Laura, Bianchi, Lucia, Doglioni, Claudio, Meschi, Franco, Bonfanti, Riccardo, Sznajer, Yves, Tommasini, Alberto, Lawitschka, Anita, Junker, Anne, Dunstheimer, Desiree, Heidemann, Peter H., Cazzola, Giantonio, Cipolli, Marco, Friedrich, Wilhelm, Janic, Dragana, Azzi, Nadira, Richmond, Erick, Vignola, Silvia, Barabino, Arrigo, Chiumello, Giuseppe, Azzari, Chiara, Roncarolo, Maria-Grazia, Bacchetta, Rosa
Published in Journal of allergy and clinical immunology (01.12.2008)
Published in Journal of allergy and clinical immunology (01.12.2008)
Get full text
Journal Article
Loading…
Clinical and Molecular Genetic Spectrum of Congenital Deficiency of the Leptin Receptor
Farooqi, I. Sadaf, Wangensteen, Teresia, Collins, Stephan, Kimber, Wendy, Matarese, Giuseppe, Keogh, Julia M, Lank, Emma, Bottomley, Bill, Lopez-Fernandez, Judith, Ferraz-Amaro, Ivan, Dattani, Mehul T, Ercan, Oya, Myhre, Anne Grethe, Retterstol, Lars, Stanhope, Richard, Edge, Julie A, McKenzie, Sheila, Lessan, Nader, Ghodsi, Maryam, De Rosa, Veronica, Perna, Francesco, Fontana, Silvia, Barroso, Inês, Undlien, Dag E, O'Rahilly, Stephen
Published in The New England journal of medicine (18.01.2007)
Published in The New England journal of medicine (18.01.2007)
Get full text
Journal Article
Loading…
The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome
Dale, David C., Bolyard, Audrey Anna, Kelley, Merideth L., Westrup, Ernest C., Makaryan, Vahagn, Aprikyan, Andrew, Wood, Brent, Hsu, Frank J.
Published in Blood (03.11.2011)
Published in Blood (03.11.2011)
Get full text
Journal Article
Loading…
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)
Get full text
Journal Article
Loading…
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)
Get full text
Journal Article
Loading…
Human CD40 ligand deficiency dysregulates the macrophage transcriptome causing functional defects that are improved by exogenous IFN-γ
Cabral-Marques, Otavio, Ramos, Rodrigo Nalio, Schimke, Lena F., Khan, Taj Ali, Amaral, Eduardo Pinheiro, Barbosa Bomfim, Caio César, Junior, Osvaldo Reis, França, Tabata Takahashi, Arslanian, Christina, Carola Correia Lima, Joanna Darck, Weber, Cristina Worm, Ferreira, Janaíra Fernandes, Tavares, Fabiola Scancetti, Sun, Jing, D'Imperio Lima, Maria Regina, Seelaender, Marília, Garcia Calich, Vera Lucia, Marzagão Barbuto, José Alexandre, Costa-Carvalho, Beatriz Tavares, Riemekasten, Gabriela, Seminario, Gisela, Bezrodnik, Liliana, Notarangelo, Luigi, Torgerson, Troy R., Ochs, Hans D., Condino-Neto, Antonio
Published in Journal of allergy and clinical immunology (01.03.2017)
Published in Journal of allergy and clinical immunology (01.03.2017)
Get full text
Journal Article
Loading…
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)
Get full text
Journal Article