Known and potential molecules associated with altered B cell development leading to predominantly antibody deficiencies

Authors: Amirifar, Parisa, Yazdani, Reza, Azizi, Gholamreza, Ranjouri, Mohammad Reza, Durandy, Anne, Plebani, Alessandro, Lougaris, Vassilios, Hammarstrom, Lennart, Aghamohammadi, Asghar, Abolhassani, Hassan, Candotti, Fabio

Source: Pediatric allergy and immunology. 32(8):1601-1615

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100133141208.0x000001&indx=1&recIds=ETOCvdc_100133141208.0x000001

Increased activation of PI3 kinase-δ predisposes to B-cell lymphoma

Authors: Durandy, Anne ^{1, *, *}, Kracker, Sven ^{*, *}

Source: In Blood 27 February 2020 135(9):638-643

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

Authors: Abinun, Mario, Albert, Michael, Cohen, Sarah Beaussant, Bustamante, Jacinta, Cant, Andrew, Casanova, Jean-Laurent, Chapel, Helen, de Saint Basile, Genevieve, de Vries, Esther, Dokal, Inderjeet, Donadieu, Jean, Durandy, Anne, Edgar, David, Espanol, Teresa, Etzioni, Amos, Fischer, Alain, Gaspar, Bobby, Gatti, Richard, Gennery, Andrew, Grigoriadou, Sofia, Holland, Steven, Janka, Gritta, Kanariou, Maria, Klein, Christoph, Lachmann, Helen, Lilic, Desa, Manson, Ania, Martinez, Natalia, Meyts, Isabelle, Moes, Nicolette, Moshous, Despina, Neven, Benedicte, Ochs, Hans, Picard, Capucine, Renner, Ellen, Rieux-Laucat, Frederic, Seger, Reinhard, Soresina, Annarosa, Stoppa-Lyonnet, Dominique, Thon, Vojtech, Thrasher, Adrian, van de Veerdonk, Frank, Villa, Anna, Weemaes, Corry, Warnatz, Klaus, Wolska, Beata, Zhang, Shen-Yin, Seidel, Markus G., Kindle, Gerhard, Gathmann, Benjamin, Quinti, Isabella, Buckland, Matthew, van Montfrans, Joris, Scheible, Raphael, Rusch, Stephan, Gasteiger, Lukas M., Grimbacher, Bodo, Mahlaoui, Nizar, Ehl, Stephan

Source: In The Journal of Allergy and Clinical Immunology: In Practice July-August 2019 7(6):1763-1770

Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1

Authors: Okano, Tsubasa, Imai, Kohsuke, Tsujita, Yuki, Mitsuiki, Noriko, Yoshida, Kenichi, Kamae, Chikako, Honma, Kenichi, Mitsui-Sekinaka, Kanako, Sekinaka, Yujin, Kato, Tamaki, Hanabusa, Katsuyuki, Endo, Eri, Takashima, Takehiro, Hiroki, Haruka, Yeh, Tzu-Wen, Tanaka, Keisuke, Nagahori, Masakazu, Tsuge, Ikuya, Bando, Yuki, Iwasaki, Fuminori, Shikama, Yoshiaki, Inoue, Masami, Kimoto, Tomiko, Moriguchi, Naohiko, Yuza, Yuki, Kaneko, Takashi, Suzuki, Kyoko, Matsubara, Tomoyo, Maruo, Yoshihiro, Kunitsu, Tomoaki, Waragai, Tomoko, Sano, Hideki, Hashimoto, Yuko, Tasaki, Kazuhiro, Suzuki, Osamu, Shirakawa, Toshihiko, Kato, Motohiro, Uchiyama, Toru, Ishimura, Masataka, Tauchi, Tetsuzo, Yagasaki, Hiroshi, Jou, Shiann-Tarng, Yu, Hsin-Hui, Kanegane, Hirokazu, Kracker, Sven, Durandy, Anne, Kojima, Daiei, Muramatsu, Hideki, Wada, Taizo, Inoue, Yuzaburo, Takada, Hidetoshi, Kojima, Seiji, Ogawa, Seishi, Ohara, Osamu, Nonoyama, Shigeaki, Morio, Tomohiro

Source: In The Journal of Allergy and Clinical Immunology January 2019 143(1):266-275

Genotoxic stress increases cytoplasmic mitochondrial DNA editing by human APOBEC3 mutator enzymes at a single cell level

Authors: Mussil, Bianka, Suspène, Rodolphe, Caval, Vincent, Durandy, Anne, Wain-Hobson, Simon, Vartanian, Jean-Pierre

Source: Scientific reports. 9(1):1-11

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125129838.0x000001&indx=1&recIds=ETOCvdc_100125129838.0x000001

Mutations of CD40 Gene Cause an Autosomal Recessive Form of Immunodeficiency with Hyper IgM

Authors: Ferrari, Simona, Giliani, Silvia, Insalaco, Antonella, Al-Ghonaium, Abdulaziz, Soresina, Anna R., Loubser, Michael, Avanzini, Maria A., Marconi, Massimo, Badolato, Raffaele, Ugazio, Alberto G., Levy, Yves, Catalan, Nadia, Durandy, Anne, Tbakhi, Abdelghani, Notarangelo, Luigi D., Plebani, Alessandro

Source: Proceedings of the National Academy of Sciences of the United States of America, 2001 Oct . 98(22), 12614-12619.

Access URL: https://www.jstor.org/stable/3056954

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

Authors: Coulter, Tanya I., Chandra, Anita, Bacon, Chris M., Babar, Judith, Curtis, James, Screaton, Nick, Goodlad, John R., Farmer, George, Steele, Cathal Laurence, Leahy, Timothy Ronan, Doffinger, Rainer, Baxendale, Helen, Bernatoniene, Jolanta, Edgar, J. David M., Longhurst, Hilary J., Ehl, Stephan, Speckmann, Carsten, Grimbacher, Bodo, Sediva, Anna, Milota, Tomas, Faust, Saul N., Williams, Anthony P., Hayman, Grant, Kucuk, Zeynep Yesim, Hague, Rosie, French, Paul, Brooker, Richard, Forsyth, Peter, Herriot, Richard, Cancrini, Caterina, Palma, Paolo, Ariganello, Paola, Conlon, Niall, Feighery, Conleth, Gavin, Patrick J., Jones, Alison, Imai, Kohsuke, Ibrahim, Mohammad A.A., Markelj, Gašper, Abinun, Mario, Rieux-Laucat, Frédéric, Latour, Sylvain, Pellier, Isabelle, Fischer, Alain, Touzot, Fabien, Casanova, Jean-Laurent, Durandy, Anne, Burns, Siobhan O., Savic, Sinisa, Kumararatne, D.S., Moshous, Despina, Kracker, Sven, Vanhaesebroeck, Bart, Okkenhaug, Klaus, Picard, Capucine, Nejentsev, Sergey, Condliffe, Alison M., Cant, Andrew James

Source: In The Journal of Allergy and Clinical Immunology February 2017 139(2):597-606

Impairment of Mycobacterial Immunity in Human Interleukin-12 Receptor Deficiency

Authors: Altare, Frédéric, Durandy, Anne, Lammas, David, Emile, Jean-François, Lamhamedi, Salma, Le Deist, Françoise, Drysdale, Pam, Jouanguy, Emmanuelle, Döffinger, Rainer, Bernaudin, Françoise, Jeppsson, Olle, Gollob, Jared A., Meinl, Edgar, Segal, Antony W., Fischer, Alain, Kumararatne, Dinakantha, Casanova, Jean-Laurent

Source: Science, 1998 May . 280(5368), 1432-1435.

Access URL: https://www.jstor.org/stable/2895916

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene

Authors: Lagresle-Peyrou, Chantal, Luce, Sonia, Ouchani, Farid, Soheili, Tayebeh Shabi, Sadek, Hanem, Chouteau, Myriam, Durand, Amandine, Pic, Isabelle, Majewski, Jacek, Brouzes, Chantal, Lambert, Nathalie, Bohineust, Armelle, Verhoeyen, Els, Cosset, François-Loïc, Magerus-Chatinet, Aude, Rieux-Laucat, Frédéric, Gandemer, Virginie, Monnier, Delphine, Heijmans, Catherine, van Gijn, Marielle, Dalm, Virgil A., Mahlaoui, Nizar, Stephan, Jean-Louis, Picard, Capucine, Durandy, Anne, Kracker, Sven, Hivroz, Claire, Jabado, Nada, de Saint Basile, Geneviève, Fischer, Alain, Cavazzana, Marina, André-Schmutz, Isabelle

Source: In The Journal of Allergy and Clinical Immunology December 2016 138(6):1681-1689

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study

Authors: Elkaim, Elodie, Neven, Benedicte, Bruneau, Julie, Mitsui-Sekinaka, Kanako, Stanislas, Aurelie, Heurtier, Lucie, Lucas, Carrie L., Matthews, Helen, Deau, Marie-Céline, Sharapova, Svetlana, Curtis, James, Reichenbach, Janine, Glastre, Catherine, Parry, David A., Arumugakani, Gururaj, McDermott, Elizabeth, Kilic, Sara Sebnem, Yamashita, Motoi, Moshous, Despina, Lamrini, Hicham, Otremba, Burkhard, Gennery, Andrew, Coulter, Tanya, Quinti, Isabella, Stephan, Jean-Louis, Lougaris, Vassilios, Brodszki, Nicholas, Barlogis, Vincent, Asano, Takaki, Galicier, Lionel, Boutboul, David, Nonoyama, Shigeaki, Cant, Andrew, Imai, Kohsuke, Picard, Capucine, Nejentsev, Sergey, Molina, Thierry Jo, Lenardo, Michael, Savic, Sinisa, Cavazzana, Marina ^‡, Fischer, Alain ^‡, Durandy, Anne ^‡, Kracker, Sven

Source: In The Journal of Allergy and Clinical Immunology July 2016 138(1):210-218

Activation-Induced Cytidine Deaminase Expression in Human B Cell Precursors Is Essential for Central B Cell Tolerance

Authors: Cantaert, Tineke, Schickel, Jean-Nicolas, Bannock, Jason M., Ng, Yen-Shing, Massad, Christopher, Oe, Tyler, Wu, Renee, Lavoie, Aubert, Walter, Jolan E., Notarangelo, Luigi D., Al-Herz, Waleed, Kilic, Sara Sebnem, Ochs, Hans D., Nonoyama, Shigeaki, Durandy, Anne, Meffre, Eric

Source: In Immunity 17 November 2015 43(5):884-895

An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex

Authors: Kracker, Sven, Di Virgilio, Michela, Schwartzentruber, Jeremy, Cuenin, Cyrille, Forveille, Monique, Deau, Marie-Céline, McBride, Kevin M., Majewski, Jacek, Gazumyan, Anna, Seneviratne, Suranjith, Grimbacher, Bodo, Kutukculer, Necil, Herceg, Zdenko, Cavazzana, Marina, Jabado, Nada, Nussenzweig, Michel C., Fischer, Alain, Durandy, Anne

Source: In The Journal of Allergy and Clinical Immunology April 2015 135(4):998-1007

Class Switch Recombination Defects: impact on B cell maturation and antibody responses

Authors: Renner, Ellen D., Krätz, Carolin E., Orange, Jordan S., Hagl, Beate, Rylaarsdam, Stacey, Notheis, Gundula, Durandy, Anne, Torgerson, Troy R., Ochs, Hans D.

Source: Clinical immunology. 222

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Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients

Authors: Neven, Bénédicte ^*, Bruneau, Julie, Stolzenberg, Marie-Claude, Meyts, Isabelle, Magerus-Chatinet, Aude, Moens, Leen, Lanzarotti, Nina, Weller, Sandra, Amiranoff, Denise, Florkin, Benoit, Bader-Meunier, Brigitte, Leverger, Guy, Ferster, Alice, Chantrain, Christophe, Blanche, Stéphane, Picard, Capucine, Molina, Thierry Jo, Brousse, Nicole, Durandy, Anne, Rizzi, Marta, Bossuyt, Xavier, Fischer, Alain, Rieux-Laucat, Frederic

Source: In Blood 4 September 2014 124(10):1597-1609

The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency

Authors: Turvey, Stuart E., Durandy, Anne, Fischer, Alain, Fung, Shan-Yu, Geha, Raif S., Gewies, Andreas, Giese, Thomas, Greil, Johann, Keller, Bärbel, McKinnon, Margaret L., Neven, Bénédicte, Rozmus, Jacob, Ruland, Jürgen, Snow, Andrew L., Stepensky, Polina, Warnatz, Klaus

Source: In The Journal of Allergy and Clinical Immunology August 2014 134(2):276-284

Analysis of somatic hypermutations in the IgM switch region in human B cells

Authors: Horiuchi, Katsuyuki, Imai, Kohsuke, Mitsui-Sekinaka, Kanako, Yeh, Tzu-Wen, Ochs, Hans D., Durandy, Anne, Nonoyama, Shigeaki

Source: In The Journal of Allergy and Clinical Immunology August 2014 134(2):411-419

IL-21 signalling via STAT3 primes human naïve B cells to respond to IL-2 to enhance their differentiation into plasmablasts

Authors: Berglund, Lucinda J., Avery, Danielle T., Ma, Cindy S., Moens, Leen, Deenick, Elissa K., Bustamante, Jacinta, Boisson-Dupuis, Stephanie, Wong, Melanie, Adelstein, Stephen, Arkwright, Peter D., Bacchetta, Rosa, Bezrodnik, Liliana, Dadi, Harjit, Roifman, Chaim M., Fulcher, David A., Ziegler, John B., Smart, Joanne M., Kobayashi, Masao, Picard, Capucine, Durandy, Anne, Cook, Matthew C., Casanova, Jean-Laurent, Uzel, Gulbu, Tangye, Stuart G.

Source: In Blood 5 December 2013 122(24):3940-3950

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8+ T-cell memory formation and function

Authors: Ives, Megan L., Ma, Cindy S., Palendira, Umaimainthan, Chan, Anna, Bustamante, Jacinta, Boisson-Dupuis, Stephanie, Arkwright, Peter D., Engelhard, Dan, Averbuch, Diana, Magdorf, Klaus, Roesler, Joachim, Peake, Jane, Wong, Melanie, Adelstein, Stephen, Choo, Sharon, Smart, Joanne M., French, Martyn A., Fulcher, David A., Cook, Matthew C., Picard, Capucine, Durandy, Anne, Tsumura, Miyuki, Kobayashi, Masao, Uzel, Gulbu, Casanova, Jean-Laurent, Tangye, Stuart G., Deenick, Elissa K.

Source: In The Journal of Allergy and Clinical Immunology August 2013 132(2):400-411

Blood CD4+CD45RO+CXCR5+ T cells are decreased but partially functional in signal transducer and activator of transcription 3 deficiency

Authors: Mazerolles, Fabienne, Picard, Capucine, Kracker, Sven, Fischer, Alain, Durandy, Anne

Source: In The Journal of Allergy and Clinical Immunology April 2013 131(4):1146-1156

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years

Authors: Fadlallah, Jehane, Chentout, Loic, Boisson, Bertrand, Pouliet, Aurore, Masson, Cecile, Morin, Florence, Durandy, Anne, Casanova, Jean-Laurent, Oksenhendler, Eric, Kracker, Sven

Source: Journal of pediatrics. 223:207-211.e1

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100116982451.0x000001&indx=1&recIds=ETOCvdc_100116982451.0x000001