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SaveShare Save DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia
Biglari, Sajjad; Youssefian, Leila; Tabatabaiefar, Mohammad Amin; Saeidian, Amir Hossein; Abtahi-Naeini, Bahareh; Khorram, Erfan; Sherkat, Roya; Moghaddam, Atefeh Sohanforooshan; Mohaghegh, Fatemeh; Rahimi, Maziyar; Rahimi, Hamid; Babaei, Sharareh; Shahrooei, Mohammad; Mozafari, Nikoo; Zaresharifi, Shirin; Vahidnezhad, Fatemeh; Homayouni, Vida; Tsoi, Lam C.; Gudjonsson, Johann E.; Jouanguy, Emmanuelle; Beziat, Vivien; Zhang, Qian; Cobat, Aurelie Share Save Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulationBiglari, Sajjad; Shahrooei, Mohammad; Vahidnezhad, Fatemeh; Youssefian, Leila; Ziaee, Vahid; Rezaei, Nima; Moghaddam, Atefeh Sohanforooshan; Sedighzadeh, Sahar; Moravej, Hossein; Safari Foroushani, Parisa; Keivanfar, Majid; Ilkhanipoor, Homa; Hozhabrpour, Amir; Seyedhosseini-Ghaheh, Hooria; Mohammadzadeh, Iraj; Naderi, Majid; Sheikhi Ghayur, Elham; Mansour Samaei, Nader; Dorgaleleh, Saeed; Esmaeilzadeh, Emran; Sherkat, Roya; Khorram Khorshid, Hamid Reza; Tabatabaiefar, Mohammad Amin; Hakonarson, Hakon; Vahidnezhad, Hassan Share Save A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunityAl Qureshah, Fahd; Le Pen, Jeremie; de Weerd, Nicole A.; Moncada-Velez, Marcela; Materna, Marie; Lin, Daniel C.; Milisavljevic, Baptiste; Vianna, Fernanda; Bizien, Lucy; Lorenzo, Lazaro; Lecuit, Marc; Pommier, Jean-David; Keles, Sevgi; Ozcelik, Tayfun; Pedraza-Sanchez, Sigifredo; de Prost, Nicolas; El Zein, Loubna; Hammoud, Hassan; Ng, Lisa F. P.; Halwani, Rabih; Saheb Sharif-Askari, Narjes; Lau, Yu Lung; Tam, Anthony R.; Singh, Neha; Bhattad, Sagar; Berkun, Yackov; Chantratita, Wasun; Aguilar-Lopez, Raul; Shahrooei, Mohammad; Abel, Laurent; Bastard, Paul; Jouanguy, Emmanuelle; Beziat, Vivien; Zhang, Peng; Rice, Charles M.; Cobat, Aurelie; Zhang, Shen-Ying; Hertzog, Paul J.; Casanova, Jean-Laurent; Zhang, Qian Share Save Share Save Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect (vol 221, e20221122, 2024)Koegl, Tamara; Chang, Hsin-Fang; Staniek, Julian; Chiang, Samuel C. C.; Thoulass, Gudrun; Lao, Jessica; Weissert, Kristoffer; Dettmer-Monaco, Viviane; Geiger, Kerstin; Manna, Paul T.; Beziat, Vivien; Momenilandi, Mana; Tu, Szu-Min; Keppler, Selina J.; Pattu, Varsha; Wolf, Philipp; Kupferschmid, Laurence; Tholen, Stefan; Covill, Laura E.; Ebert, Karolina; Straub, Tobias; Gross, Miriam; Gather, Ruth; Engel, Helena; Salzer, Ulrich; Schell, Christoph; Maier, Sarah; Lehmberg, Kai; Cornu, Tatjana I.; Pircher, Hanspeter; Shahrooei, Mohammad; Parvaneh, Nima; Elling, Roland; Rizzi, Marta; Bryceson, Yenan T.; Ehl, Stephan; Aichele, Peter; Ammann, Sandra Share Save Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defectKoegl, Tamara; Chang, Hsin-Fang; Staniek, Julian; Chiang, Samuel C. C.; Thoulass, Gudrun; Lao, Jessica; Weissert, Kristoffer; Dettmer-Monaco, Viviane; Geiger, Kerstin; Manna, Paul T.; Beziat, Vivien; Momenilandi, Mana; Tu, Szu-Min; Keppler, Selina J.; Pattu, Varsha; Wolf, Philipp; Kupferschmid, Laurence; Tholen, Stefan; Covill, Laura E.; Ebert, Karolina; Straub, Tobias; Gross, Miriam; Gather, Ruth; Engel, Helena; Salzer, Ulrich; Schell, Christoph; Maier, Sarah; Lehmberg, Kai; Cornu, Tatjana I.; Pircher, Hanspeter; Shahrooei, Mohammad; Parvaneh, Nima; Elling, Roland; Rizzi, Marta; Bryceson, Yenan T.; Ehl, Stephan; Aichele, Peter; Ammann, Sandra Share Save Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiencyOda, Hirotsugu; Manthiram, Kalpana; Chavan, Pallavi Pimpale; Rieser, Eva; Veli, Oenay; Kaya, Oeykue; Rauch, Charles; Nakabo, Shuichiro; Kuehn, Hye Sun; Swart, Mariel; Wang, Yanli; Celik, Nisa Ilgim; Molitor, Anne; Ziaee, Vahid; Movahedi, Nasim; Shahrooei, Mohammad; Parvaneh, Nima; Alipour-Olyei, Nasrin; Carapito, Raphael; Xu, Qin; Preite, Silvia; Beck, David B.; Chae, Jae Jin; Nehrebecky, Michele; Ombrello, Amanda K.; Hoffmann, Patrycja; Romeo, Tina; Deuitch, Natalie T.; Matthiasardottir, Brynja; Mullikin, James; Komarow, Hirsh; Stoddard, Jennifer; Niemela, Julie; Dobbs, Kerry; Sweeney, Colin L.; Anderton, Holly; Lawlor, Kate E.; Yoshitomi, Hiroyuki; Yang, Dan; Boehm, Manfred; Davis, Jeremy; Mudd, Pamela; Randazzo, Davide; Tsai, Wanxia Li; Gadina, Massimo; Kaplan, Mariana J.; Toguchida, Junya; Mayer, Christian T.; Rosenzweig, Sergio D.; Notarangelo, Luigi D.; Iwai, Kazuhiro; Silke, John; Schwartzberg, Pamela L.; Boisson, Bertrand; Casanova, Jean-Laurent; Bahram, Seiamak; Rao, Anand Prahalad; Peltzer, Nieves; Walczak, Henning; Lalaoui, Najoua; Aksentijevich, Ivona; Kastner, Daniel L. Share Save A novel pediatric polycystic lung disease caused by CCR2 deficiencyNeehus, Anna-Lena; Landekic, Marija; Rinchai, Darawan; Panikulam, Patricia; Philippot, Quentin; Le Voyer, Tom; Ogishi, Masato; Rosain, Jeremie; Momenilandi, Mana; Franco, Carlos Andres Arango; Martin-Fernandez, Marta; Khan, Taushif; Bohlen, Jonathan; Manry, Jeremy; Han, Ji Eun; Deslys, Alexandre; Gajardo-Carrasco, Tania; Soudee, Camille; Migaud, Melanie; Seeleuthner, Yoann; Nikolouli, Eirini; Seyedpour, Simin; Begueret, Hugues; Brouzes, Chantal; Vargas, Pablo; Lachmann, Nico; Boire, Raphael; Marr, Nico; Bugonovic, Dusan; Modaresi, Mohammadreza; Nogee, Larry; Craven, Daniel; Mohamadzadeh, Iraj; Rezai, Nima; Shahrooei, Mohammad; Boisson-Dupuis, Stephanie; Sepulveda, Fernando; Beziat, Vivien; Aladjidi, Nathalie; Abel, Laurent; Gros, Philippe; Malo, Danielle; Young, Lisa; Deterding, Robin; Deutsch, Gail; Carey, Brenna; Trapnell, Bruce; Casanova, Jean-Laurent; Bustamante, Jacinta Share Save Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian PopulationKhorshidi, Mohadese Sadat Mousavi; Seeleuthner, Yoann; Chavoshzadeh, Zahra; Behfar, Maryam; Hamidieh, Amir Ali; Alimadadi, Hosein; Sherkat, Roya; Momen, Tooba; Behniafard, Nasrin; Eskandarzadeh, Shabnam; Mansouri, Mahboubeh; Behnam, Mahdiyeh; Mahdavi, Mohadese; Zadeh, Maryam Heydarazad; Shokri, Mehdi; Alizadeh, Fatemeh; Movahedi, Mahshid; Momenilandi, Mana; Keramatipour, Mohammad; Casanova, Jean-Laurent; Cobat, Aurelie; Abel, Laurent; Shahrooei, Mohammad; Parvaneh, Nima Share Save Human germline heterozygous gain-of-function STAT6 variants cause severe allergic diseaseSharma, Mehul; Leung, Daniel; Momenilandi, Mana; Jones, Lauren C. W.; Pacillo, Lucia; James, Alyssa E.; Murrell, Jill R.; Delafontaine, Selket; Maimaris, Jesmeen; Vaseghi-Shanjani, Maryam; Del Bel, Kate L.; Lu, Henry Y.; Chua, Gilbert T.; Di Cesare, Silvia; Fornes, Oriol; Liu, Zhongyi; Di Matteo, Gigliola; Fu, Maggie P.; Amodio, Donato; Tam, Issan Yee San; Chan, Gavin Shueng Wai; Sharma, Ashish A.; Dalmann, Joshua; van der Lee, Robin; Blanchard-Rohner, Geraldine; Lin, Susan; Philippot, Quentin; Richmond, Phillip A.; Lee, Jessica J.; Matthews, Allison; Seear, Michael; Turvey, Alexandra K.; Philips, Rachael L.; Brown-Whitehorn, Terri F.; Gray, Christopher J.; Izumi, Kosuke; Treat, James R.; Wood, Kathleen H.; Lack, Justin; Khleborodova, Asya; Niemela, Julie E.; Yang, Xingtian; Liang, Rui; Kui, Lin; Wong, Christina Sze Man; Poon, Grace Wing Kit; Hoischen, Alexander; van der Made, Caspar I.; Yang, Jing; Chan, Koon Wing; Rosa Duque, Jaime Sou Da; Lee, Pamela Pui Wah; Ho, Marco Hok Kung; Chung, Brian Hon Yin; Le, Huong Thi Minh; Yang, Wanling; Rohani, Pejman; Fouladvand, Ali; Rokni-Zadeh, Hassan; Changi-Ashtiani, Majid; Miryounesi, Mohammad; Puel, Anne; Shahrooei, Mohammad; Finocchi, Andrea; Rossi, Paolo; Rivalta, Beatrice; Cifaldi, Cristina; Novelli, Antonio; Passarelli, Chiara; Arasi, Stefania; Bullens, Dominique; Sauer, Kate; Claeys, Tania; Biggs, Catherine M.; Morris, Emma C.; Rosenzweig, Sergio D.; O'Shea, John J.; Wasserman, Wyeth W.; Bedford, H. Melanie; van Karnebeek, Clara D. M.; Palma, Paolo; Burns, Siobhan O.; Meyts, Isabelle; Casanova, Jean-Laurent; Lyons, Jonathan J.; Parvaneh, Nima; Nguyen, Anh Thi Van; Cancrini, Caterina; Heimall, Jennifer; Ahmed, Hanan; McKinnon, Margaret L.; Lau, Yu Lung; Beziat, Vivien; Turvey, Stuart E. Share Save Human IL-23 is essential for IFN-y-dependent immunity to mycobacteriaPhilippot, Quentin; Ogishi, Masato; Bohlen, Jonathan; Puchan, Julia; Arias, Andres Augusto; Nguyen, Tina; Martin-Fernandez, Marta; Conil, Clement; Rinchai, Darawan; Momenilandi, Mana; Mandaviani, Seyed Alireza; Keramatipour, Mohammad; Rosain, Jeremie; Yang, Rui; Khan, Taushif; Neehus, Anna-Lena; Materna, Marie; Han, Ji Eun; Peel, Jessica; Mele, Federico; Weisshaar, Marc; Jovic, Sandra; Bastard, Paul; Levy, Romain; Le Voyer, Tom; Zhang, Peng; Renkilaraj, Majistor Raj Luxman Maglorius; Arango-Franco, Carlos A.; Pelham, Simon; Seeleuthner, Yoann; Pochon, Mathieu; Ata, Manar Mahmoud Ahmad; Al Ali, Fatima; Migaud, Melanie; Soudee, Camille; Kochetkov, Tatiana; Molitor, Anne; Carapito, Raphael; Bahram, Seiamak; Boisson, Bertrand; Fieschi, Claire; Mansouri, Davood; Marr, Nico; Okada, Satoshi; Shahrooei, Mohammad; Parvaneh, Nima; Chavoshzadeh, Zahra; Cobat, Aurelie; Bogunovic, Dusan; Abel, Laurent; Tangye, Stuart G.; Ma, Cindy S.; Beziat, Vivien; Sallusto, Federica; Boisson-Dupuis, Stephanie; Bustamante, Jacinta; Casanova, Jean-Laurent; Puel, Anne Share Save Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency (vol 219, e20220202, 2022)Campbell, Tessa Mollie; Liu, Zhiyong; Zhang, Qian; Moncada-Velez, Marcela; Covill, Laura E.; Zhang, Peng; Darazam, Ilad Alavi; Bastard, Paul; Bizien, Lucy; Bucciol, Giorgia; Enoksson, Sara Lind; Jouanguy, Emmanuelle; Karabela, Semsi Nur; Khan, Taushif; Kendir-Demirkol, Yasemin; Arias, Andres Augusto; Mansouri, Davood; Marits, Per; Marr, Nico; Migeotte, Isabelle; Moens, Leen; Ozcelik, Tayfun; Pellier, Isabelle; Sendel, Anton; Senoglu, Sevtap; Shahrooei, Mohammad; Smith, C. I. Edvard; Vandernoot, Isabelle; Willekens, Karen; Yasar, Kadriye Kart; COVID Human Genetic Effort, Peter; Bergman, Peter; Abel, Laurent; Cobat, Aurelie; Casanova, Jean-Laurent; Meyts, Isabelle T.; Bryceson, Yenan Share Save Share Save Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosisOgishi, Masato; Yang, Rui; Rodriguez, Remy; Golec, Dominic P.; Martin, Emmanuel; Philippot, Quentin; Bohlen, Jonathan; Pelham, Simon J.; Arias, Andres Augusto; Khan, Taushif; Ata, Manar; Al Ali, Fatima; Rozenberg, Flore; Kong, Xiao-Fei; Chrabieh, Maya; Laine, Candice; Lei, Wei-Te; Han, Ji Eun; Seeleuthner, Yoann; Kaul, Zenia; Jouanguy, Emmanuelle; Beziat, Vivien; Youssefian, Leila; Vahidnezhad, Hassan; Rao, V. Koneti; Neven, Benedicte; Fieschi, Claire; Mansouri, Davood; Shahrooei, Mohammad; Pekcan, Sevgi; Alkan, Gulsum; Emiroglu, Melike; Tokgoez, Hueseyin; Uitto, Jouni; Hauck, Fabian; Bustamante, Jacinta; Abel, Laurent; Keles, Sevgi; Parvaneh, Nima; Marr, Nico; Schwartzberg, Pamela L.; Latour, Sylvain; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie Share Save Share Save Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 DeficiencyDarazam, Ilad Alavi; Hakamifard, Atousa; Momenilandi, Mana; Materna, Marie; Gharehbagh, Farid Javandoust; Shahrooei, Mohammad; Olyaei, Nasrin Alipour; Zerehpoosh, Farahnaz Bidari; Fayand, Antoine; Hatami, Firouze; Lotfollahi, Legha; Mansouri, Nahal; Casanova, Jean-Laurent; Beziat, Vivien; Mansouri, Davood Share Save Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcificationsRosenhahn, Erik; O'Brien, Thomas J.; Zaki, Maha S.; Sorge, Ina; Wieczorek, Dagmar; Rostasy, Kevin; Vitobello, Antonio; Nambot, Sophie; Alkuraya, Fowzan S.; Hashem, Mais O.; Alhashem, Amal; Tabarki, Brahim; Alamri, Abdullah S.; Al Safar, Ayat H.; Bubshait, Dalal K.; Alahmady, Nada F.; Gleeson, Joseph G.; Abdel-Hamid, Mohamed S.; Lesko, Nicole; Ygberg, Sofia; Correia, Sandrina P.; Wredenberg, Anna; Alavi, Shahryar; Seyedhassani, Seyed M.; Nasab, Mahya Ebrahimi; Hussien, Haytham; Omar, Tarek E., I; Harzallah, Ines; Touraine, Renaud; Tajsharghi, Homa; Morsy, Heba; Houlden, Henry; Shahrooei, Mohammad; Ghavideldarestani, Maryam; Abdel-Salam, Ghada M. H.; Torella, Annalaura; Zanobio, Mariateresa; Terrone, Gaetano; Brunetti-Pierri, Nicola; Omrani, Abdolmajid; Hentschel, Julia; Lemke, Johannes R.; Sticht, Heinrich; Abou Jamra, Rami; Brown, Andre E. X.; Maroofian, Reza; Platzer, Konrad Share Save 
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