Human gain-of-function STAT1 mutation disturbs IL-17 immunity in mice by Tamaura, Moe, Satoh-Takayama, Naoko, Tsumura, Miyuki, Sasaki, Takaharu, Goda, Satoshi, Kageyama, Tomoko, Hayakawa, Seiichi, Kimura, Shunsuke, Asano, Takaki, Nakayama, Manabu, Koseki, Haruhiko, Ohara, Osamu, Okada, Satoshi, Ohno, Hiroshi, Kobayashi, Masao

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Gain-of-function IKBKB mutation causes human combined immune deficiency by Cardinez, Chelisa, Miraghazadeh, Bahar, Tanita, Kay, da Silva, Elizabeth, Hoshino, Akihiro, Okada, Satoshi, Chand, Rochna, Asano, Takaki, Tsumura, Miyuki, Yoshida, Kenichi, Ohnishi, Hidenori, Kato, Zenichiro, Yamazaki, Masahide, Okuno, Yusuke, Miyano, Satoru, Kojima, Seiji, Ogawa, Seishi, Andrews, T Daniel, Field, Matthew A, Burgio, Gaetan, Morio, Tomohiro, Vinuesa, Carola G, Kanegane, Hirokazu, Cook, Matthew C

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X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia by Abolhassani, Hassan, Vosughimotlagh, Ahmad, Asano, Takaki, Landegren, Nils, Boisson, Bertrand, Delavari, Samaneh, Bastard, Paul, Aranda-Guillén, Maribel, Wang, Yating, Zuo, Fanglei, Sardh, Fabian, Marcotte, Harold, Du, Likun, Zhang, Shen-Ying, Zhang, Qian, Rezaei, Nima, Kämpe, Olle, Casanova, Jean-Laurent, Hammarström, Lennart, Pan-Hammarström, Qiang

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Phosphatase and tensin homolog ( PTEN ) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome–like immunodeficiency by Tsujita, Yuki, MD, Mitsui-Sekinaka, Kanako, MD, Imai, Kohsuke, MD, PhD, Yeh, Tzu-Wen, MSc, Mitsuiki, Noriko, MD, PhD, Asano, Takaki, MD, Ohnishi, Hidenori, MD, PhD, Kato, Zenichiro, MD, PhD, Sekinaka, Yujin, MD, Zaha, Kiyotaka, MD, Kato, Tamaki, MD, PhD, Okano, Tsubasa, MD, Takashima, Takehiro, MD, Kobayashi, Kaoru, MD, PhD, Kimura, Mitsuaki, MD, PhD, Kunitsu, Tomoaki, MD, Maruo, Yoshihiro, MD, PhD, Kanegane, Hirokazu, MD, PhD, Takagi, Masatoshi, MD, PhD, Yoshida, Kenichi, MD, PhD, Okuno, Yusuke, MD, PhD, Muramatsu, Hideki, MD, PhD, Shiraishi, Yuichi, PhD, Chiba, Kenichi, BA, Tanaka, Hiroko, BSc, Miyano, Satoru, PhD, Kojima, Seiji, MD, PhD, Ogawa, Seishi, MD, PhD, Ohara, Osamu, PhD, Okada, Satoshi, MD, PhD, Kobayashi, Masao, MD, PhD, Morio, Tomohiro, MD, PhD, Nonoyama, Shigeaki, MD, PhD

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Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings by Imanaka, Yusuke, Taniguchi, Maki, Doi, Takehiko, Tsumura, Miyuki, Nagaoka, Rie, Shimomura, Maiko, Asano, Takaki, Kagawa, Reiko, Mizoguchi, Yoko, Karakawa, Shuhei, Arihiro, Koji, Imai, Kohsuke, Morio, Tomohiro, Casanova, Jean-Laurent, Puel, Anne, Ohara, Osamu, Kamei, Katsuhiko, Kobayashi, Masao, Okada, Satoshi

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Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome by Asano, Takaki, Okada, Satoshi, Tsumura, Miyuki, Yeh, Tzu-Wen, Mitsui-Sekinaka, Kanako, Tsujita, Yuki, Ichinose, Youjiro, Shimada, Akira, Hashimoto, Kunio, Wada, Taizo, Imai, Kohsuke, Ohara, Osamu, Morio, Tomohiro, Nonoyama, Shigeaki, Kobayashi, Masao

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A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis by Sakura, Fumiaki, Noma, Kosuke, Asano, Takaki, Tanita, Kay, Toyofuku, Etsushi, Kato, Kentaro, Tsumura, Miyuki, Nihira, Hiroshi, Izawa, Kazushi, Mitsui-Sekinaka, Kanako, Konno, Ryo, Kawashima, Yusuke, Mizoguchi, Yoko, Karakawa, Shuhei, Hayakawa, Seiichi, Kawaguchi, Hiroshi, Imai, Kohsuke, Nonoyama, Shigeaki, Yasumi, Takahiro, Ohnishi, Hidenori, Kanegane, Hirokazu, Ohara, Osamu, Okada, Satoshi

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Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research by Asano, Takaki, Noma, Kosuke, Mizoguchi, Yoko, Karakawa, Shuhei, Okada, Satoshi

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Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1 by Asano, Takaki, Utsumi, Takanori, Kagawa, Reiko, Karakawa, Shuhei, Okada, Satoshi

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Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy by Okada, Satoshi, Asano, Takaki, Moriya, Kunihiko, Boisson-Dupuis, Stephanie, Kobayashi, Masao, Casanova, Jean-Laurent, Puel, Anne

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Human genetic and immunological determinants of critical COVID-19 pneumonia by Zhang, Qian, Bastard, Paul, Cobat, Aurélie, Casanova, Jean-Laurent

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Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia by Zhang, Qian, Matuozzo, Daniela, Le Pen, Jérémie, Lee, Danyel, Moens, Leen, Asano, Takaki, Bohlen, Jonathan, Liu, Zhiyong, Moncada-Velez, Marcela, Kendir-Demirkol, Yasemin, Jing, Huie, Bizien, Lucy, Marchal, Astrid, Abolhassani, Hassan, Delafontaine, Selket, Bucciol, Giorgia, Bayhan, Gulsum Ical, Keles, Sevgi, Kiykim, Ayca, Hancerli, Selda, Haerynck, Filomeen, Florkin, Benoit, Hatipoglu, Nevin, Ozcelik, Tayfun, Morelle, Guillaume, Zatz, Mayana, Ng, Lisa F P, Lye, David Chien, Young, Barnaby Edward, Leo, Yee-Sin, Dalgard, Clifton L, Lifton, Richard P, Renia, Laurent, Meyts, Isabelle, Jouanguy, Emmanuelle, Hammarström, Lennart, Pan-Hammarström, Qiang, Boisson, Bertrand, Bastard, Paul, Su, Helen C, Boisson-Dupuis, Stéphanie, Abel, Laurent, Rice, Charles M, Zhang, Shen-Ying, Cobat, Aurélie, Casanova, Jean-Laurent

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X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 by Asano, Takaki, Boisson, Bertrand, Onodi, Fanny, Matuozzo, Daniela, Moncada-Velez, Marcela, Maglorius Renkilaraj, Majistor Raj Luxman, Zhang, Peng, Meertens, Laurent, Bolze, Alexandre, Materna, Marie, Korniotis, Sarantis, Gervais, Adrian, Talouarn, Estelle, Bigio, Benedetta, Seeleuthner, Yoann, Bilguvar, Kaya, Zhang, Yu, Neehus, Anna-Lena, Ogishi, Masato, Pelham, Simon J, Le Voyer, Tom, Rosain, Jérémie, Philippot, Quentin, Soler-Palacín, Pere, Colobran, Roger, Martin-Nalda, Andrea, Rivière, Jacques G, Tandjaoui-Lambiotte, Yacine, Chaïbi, Khalil, Shahrooei, Mohammad, Darazam, Ilad Alavi, Olyaei, Nasrin Alipour, Mansouri, Davood, Hatipoğlu, Nevin, Palabiyik, Figen, Ozcelik, Tayfun, Novelli, Giuseppe, Novelli, Antonio, Casari, Giorgio, Aiuti, Alessandro, Carrera, Paola, Bondesan, Simone, Barzaghi, Federica, Rovere-Querini, Patrizia, Tresoldi, Cristina, Franco, Jose Luis, Rojas, Julian, Reyes, Luis Felipe, Bustos, Ingrid G, Arias, Andres Augusto, Morelle, Guillaume, Christèle, Kyheng, Troya, Jesús, Planas-Serra, Laura, Schlüter, Agatha, Gut, Marta, Pujol, Aurora, Allende, Luis M, Rodriguez-Gallego, Carlos, Flores, Carlos, Cabrera-Marante, Oscar, Pleguezuelo, Daniel E, de Diego, Rebeca Pérez, Keles, Sevgi, Aytekin, Gokhan, Akcan, Ozge Metin, Bryceson, Yenan T, Bergman, Peter, Brodin, Petter, Smole, Daniel, Smith, C I Edvard, Norlin, Anna-Carin, Campbell, Tessa M, Covill, Laura E, Hammarström, Lennart, Pan-Hammarström, Qiang, Abolhassani, Hassan, Mane, Shrikant, Marr, Nico, Ata, Manar, Al Ali, Fatima, Khan, Taushif, Spaan, András N, Dalgard, Clifton L, Bonfanti, Paolo, Biondi, Andrea, Tubiana, Sarah, Burdet, Charles, Nussbaum, Robert, Kahn-Kirby, Amanda, Snow, Andrew L, Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Zhang, Shen-Ying, Béziat, Vivien, Lifton, Richard P, Bastard, Paul, Notarangelo, Luigi D, Abel, Laurent

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Novel NF-kappa B Inhibitor Alpha Gain-of-Function Variant in an Infant with Lymphocytosis and Recurrent Serratia Bacteremia by Gunderman, Lauren M., Asano, Takaki, Casanova, Jean-Laurent, Boisson, Bertrand, Khojah, Amer

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Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency by Lévy, Romain, Okada, Satoshi, Béziat, Vivien, Moriya, Kunihiko, Liu, Caini, Chai, Louis Yi Ann, Migaud, Mélanie, Hauck, Fabian, Ali, Amein Al, Cyrus, Cyril, Vatte, Chittibabu, Patiroglu, Turkan, Unal, Ekrem, Ferneiny, Marie, Hyakuna, Nobuyuki, Nepesov, Serdar, Oleastro, Matias, Ikinciogullari, Aydan, Dogu, Figen, Asano, Takaki, Ohara, Osamu, Yun, Ling, Mina, Erika Della, Bronnimann, Didier, Itan, Yuval, Gothe, Florian, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Tahuil, Natalia, Aytekin, Caner, Salhi, Aicha, Muhsen, Saleh Al, Kobayashi, Masao, Toubiana, Julie, Abel, Laurent, Li, Xiaoxia, Camcioglu, Yildiz, Celmeli, Fatih, Klein, Christoph, AlKhater, Suzan A., Casanova, Jean-Laurent, Puel, Anne

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Prolonged diagnostic journey in delayed-onset adenosine deaminase deficiency by Tomomasa, Dan, Takagi, Masatoshi, Watanabe, Ryohei, Wakatsuki, Ryosuke, Miyamoto, Satoshi, Hoshino, Akihiro, Kamiya, Takahiro, Isoda, Takeshi, Kobayashi, Anju, Kosaki, Kenjiro, Sakura, Fumiaki, Asano, Takaki, Uchiyama, Toru, Okada, Satoshi, Morio, Tomohiro, Kanegane, Hirokazu

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Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study by Elkaim, Elodie, MD, Neven, Benedicte, MD, PhD, Bruneau, Julie, MD, PhD, Mitsui-Sekinaka, Kanako, MD, Stanislas, Aurelie, MSc, Heurtier, Lucie, MSc, Lucas, Carrie L., PhD, Matthews, Helen, BSc, Deau, Marie-Céline, MSc, Sharapova, Svetlana, PhD, Curtis, James, BSc, Reichenbach, Janine, MD, Glastre, Catherine, MD, Parry, David A., PhD, Arumugakani, Gururaj, FRCPath, PhD, McDermott, Elizabeth, MD, Kilic, Sara Sebnem, MD, Yamashita, Motoi, MD, Moshous, Despina, MD, PhD, Lamrini, Hicham, MSc, Otremba, Burkhard, MD, Gennery, Andrew, MD, Coulter, Tanya, MRCPI, Quinti, Isabella, MD, Stephan, Jean-Louis, MD, Lougaris, Vassilios, MD, Brodszki, Nicholas, MD, Barlogis, Vincent, MD, Asano, Takaki, MD, Galicier, Lionel, MD, Boutboul, David, MD, PhD, Nonoyama, Shigeaki, MD, PhD, Cant, Andrew, MD, PhD, Imai, Kohsuke, MD, Picard, Capucine, MD, PhD, Nejentsev, Sergey, PhD, Molina, Thierry Jo, MD, PhD, Lenardo, Michael, MD, Savic, Sinisa, FRCPath, PhD, Cavazzana, Marina, MD, PhD, Fischer, Alain, MD, PhD, Durandy, Anne, MD, PhD, Kracker, Sven, PhD

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Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children by Bastard, Paul, Gervais, Adrian, Taniguchi, Maki, Saare, Liisa, Särekannu, Karita, Le Voyer, Tom, Philippot, Quentin, Rosain, Jérémie, Bizien, Lucy, Asano, Takaki, Garcia-Prat, Marina, Parra-Martínez, Alba, Migaud, Mélanie, Tsumura, Miyuki, Conti, Francesca, Belot, Alexandre, Rivière, Jacques G, Morio, Tomohiro, Tanaka, Junko, Javouhey, Etienne, Haerynck, Filomeen, Duvlis, Sotirija, Ozcelik, Tayfun, Keles, Sevgi, Tandjaoui-Lambiotte, Yacine, Escoda, Simon, Husain, Maya, Pan-Hammarström, Qiang, Hammarström, Lennart, Ahlijah, Gloria, Abi Haidar, Anthony, Soudee, Camille, Arseguel, Vincent, Abolhassani, Hassan, Sahanic, Sabina, Tancevski, Ivan, Nukui, Yoko, Hayakawa, Seiichi, Chrousos, George P, Michos, Athanasios, Tatsi, Elizabeth-Barbara, Filippatos, Filippos, Rodriguez-Palmero, Agusti, Troya, Jesus, Tipu, Imran, Meyts, Isabelle, Roussel, Lucie, Ostrowski, Sisse Rye, Schidlowski, Laire, Prando, Carolina, Condino-Neto, Antonio, Cheikh, Nathalie, Bousfiha, Ahmed A, El Bakkouri, Jalila, Peterson, Pärt, Pujol, Aurora, Lévy, Romain, Quartier, Pierre, Vinh, Donald C, Boisson, Bertrand, Béziat, Vivien, Zhang, Shen-Ying, Borghesi, Alessandro, Pession, Andrea, Andreakos, Evangelos, Marr, Nico, Mentis, Alexios-Fotios A, Mogensen, Trine H, Rodríguez-Gallego, Carlos, Soler-Palacin, Pere, Colobran, Roger, Tillmann, Vallo, Neven, Bénédicte, Trouillet-Assant, Sophie, Brodin, Petter, Abel, Laurent, Jouanguy, Emmanuelle, Zhang, Qian, Martinón-Torres, Federico, Salas, Antonio, Gómez-Carballa, Alberto, Gonzalez-Granado, Luis I, Kisand, Kai, Okada, Satoshi, Puel, Anne, Cobat, Aurélie, Casanova, Jean-Laurent

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Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity by Moriya, Kunihiko, Nakano, Tomohiro, Honda, Yoshitaka, Tsumura, Miyuki, Ogishi, Masato, Sonoda, Motoshi, Nishitani-Isa, Masahiko, Uchida, Takashi, Hbibi, Mohamed, Mizoguchi, Yoko, Ishimura, Masataka, Izawa, Kazushi, Asano, Takaki, Kakuta, Fumihiko, Abukawa, Daiki, Rinchai, Darawan, Zhang, Peng, Kambe, Naotomo, Bousfiha, Aziz, Yasumi, Takahiro, Boisson, Bertrand, Puel, Anne, Casanova, Jean-Laurent, Nishikomori, Ryuta, Ohga, Shouichi, Okada, Satoshi, Sasahara, Yoji, Kure, Shigeo

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A case of primary ciliary dyskinesis with DRC1 deletion and literature review: Additional evidence on the founder effect by Ohya, Ayami, Tomomasa, Dan, Sakura, Fumiaki, Asano, Takaki, Arisaka, Atsuko, Akashi, Takumi, van Zelm, Menno C, Morio, Tomohiro, Okada, Satoshi, Kanegane, Hirokazu

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