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收藏分享 收藏 分享 收藏 The opposing effects of two gene defects in STX11 and SLP76 on the disease in a patient with an inborn error of immunity
Mansour, Rana; El -Hassan, Rana; El-Orfali, Youmna; Saidu, Adam; Al-Kalamouni, Habib; Chen, Qian; Benamar, Mehdi; Dbaibo, Ghassan; Hanna-Wakim, Rima; Chatila, Talal A.; Massaad, Michel J. 分享 收藏 Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6由于转录因子STAT6的功能突变而导致的严重过敏性失调Baris, Safa; Benamar, Mehdi; Chen, Qian; Catak, Mehmet Cihangir; Martinez-Blanco, Monica; Wang, Muyun; Fong, Jason; Massaad, Michel J.; Sefer, Asena Pinar; Kara, Altan; Babayeva, Royala; Eltan, Sevgi Bilgic; Yucelten, Ayse Deniz; Bozkurtlar, Emine; Cinel, Leyla; Karakoc-Aydiner, Elif; Zheng, Yumei; Wu, Hao; Ozen, Ahmet; Schmitz-Abe, Klaus; Chatila, Talal A. 分享 收藏 分享 收藏 分享 收藏 Binding of WIP to Actin Is Essential for T Cell Actin Cytoskeleton Integrity and Tissue HomingMassaad, Michel J.; Oyoshi, Michiko K.; Kane, Jennifer; Koduru, Suresh; Alcaide, Pilar; Nakamura, Fumihiko; Ramesh, Narayanaswamy; Luscinskas, Francis W.; Hartwig, John; Geha, Raif S. 分享 收藏 The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity中东和北非先天性免疫错误的诊断和管理指南Baris, Safa; Abolhassani, Hassan; Massaad, Michel J.; Al-Nesf, Maryam; Chavoshzadeh, Zahra; Keles, Sevgi; Reisli, Ismail; Tahiat, Azzeddine; Shendi, Hiba Mohammad; Abd Elaziz, Dalia; Belaid, Brahim; Al Dhaheri, Fatima; Haskologlu, Sule; Dogu, Figen; Ben-Mustapha, Imen; Sobh, Ali; Galal, Nermeen; Meshaal, Safa; Elhawary, Rabab; El-marsafy, Aisha; Alroqi, Fayhan J.; Al-Saud, Bandar; Al-Ahmad, Mona; Al Farsi, Tariq; AL Sukaiti, Nashat; Al-Tamemi, Salem; Mehawej, Cybel; Dbaibo, Ghassan; ElGhazali, Gehad; Kilic, Sara Sebnem; Genel, Ferah; Kiykim, Ayca; Musabak, Ugur; Artac, Hasibe; Guner, Sukru Nail; Boukari, Rachida; Djidjik, Reda; Kechout, Nadia; Cagdas, Deniz; El-Sayed, Zeinab Awad; Karakoc-Aydiner, Elif; Alzyoud, Raed; Barbouche, Mohamed Ridha; Adeli, Mehdi; Wakim, Rima Hanna; Reda, Shereen M.; Ikinciogullari, Aydan; Ozen, Ahmet; Bousfiha, Aziz; Al-Mousa, Hamoud; Rezaei, Nima; Al-Herz, Waleed; Geha, Raif S. 分享 收藏 分享 收藏 分享 收藏 DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation (vol 13, 612, 2012)Jabara, Haifa H.; McDonald, Douglas R.; Janssen, Erin; Massaad, Michel J.; Ramesh, Narayanaswamy; Borzutzky, Arturo; Rauter, Ingrid; Benson, Halli; Schneider, Lynda; Baxi, Sachin; Recher, Mike; Notarangelo, Luigi D.; Wakim, Rima; Dbaibo, Ghassan; Dasouki, Majed; Al-Herz, Waleed; Barlan, Isil; Baris, Safa; Kutukculer, Necil; Ochs, Hans D.; Plebani, Alessandro; Kanariou, Maria; Lefranc, Gerard; Reisli, Ismail; Fitzgerald, Katherine A.; Golenbock, Douglas; Manis, John; Keles, Sevgi; Ceja, Reuben; Chatila, Talal A.; Geha, Raif S. 分享 收藏 Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complexBainter, Wayne; Platt, Craig D.; Park, Seung-Yeol; Stafstrom, Kelsey; Wallace, Jacqueline G.; Peters, Zachary T.; Massaad, Michel J.; Becuwe, Michel; Salinas, Sandra Andrea; Jones, Jennifer; Beaussant-Cohen, Sarah; Jaber, Faris; Yang, Jia-Shu; Walther, Tobias C.; Orange, Jordan S.; Rao, Chitong; Rakoff-Nahoum, Seth; Tsokos, Maria; Naseem, Shafiq Ur Rehman; Al-Tamemi, Salem; Chou, Janet; Hsu, Victor W.; Geha, Raif S. 分享 收藏 Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activationChou, Janet; Alazami, Anas M.; Jaber, Faris; Hoyos-Bachiloglu, Rodrigo; Jones, Jennifer; Weeks, Sabrina; Alosaimi, Mohammed F.; Bainter, Wayne; Cangemi, Brittney; Badran, Yousef R.; Mohammed, Reem; Alroqi, Fayhan; Almutairi, Abduarahman; Al-Onazi, Noufa; AlAjaji, Sulaiman; Al-Saud, Bander; Arnaout, Rand; Elkins, Megan; Devana, Sridevi; Imperial, Juliet; Li, Betty; Drexhage, Linnea; Rahman, Anas M. Abdel; Jacob, Minnie; Haddad, Hadi; Hanna-Wakim, Rima; Dbaibo, Ghassan; Massaad, Michel J.; Dasouki, Majed; Mikhael, Raymond; Baz, Zeina; Geha, Raif S.; Al-Mousa, Hamoud 分享 收藏 分享 收藏 Inherited human IFN-γ deficiency underlies mycobacterial disease遗传性人ifn-γ 缺乏是分枝杆菌病的基础Kerner, Gaspard; Rosain, Jeremie; Guerin, Antoine; Al-Khabaz, Ahmad; Oleaga-Quintas, Carmen; Rapaport, Franck; Massaad, Michel J.; Ding, Jing-Ya; Khan, Taushif; Al Ali, Fatima; Rahman, Mahbuba; Deswarte, Caroline; Martinez-Barricarte, Ruben; Geha, Raif S.; Jeanne-Julien, Valentine; Garcia, Diane; Chi, Chih-Yu; Yang, Rui; Roynard, Manon; Fleckenstein, Bernhard; Rozenberg, Flore; Boisson-Dupuis, Stephanie; Ku, Cheng-Lung; Seeleuthner, Yoann; Beziat, Vivien; Marr, Nico; Abel, Laurent; Al-Herz, Waleed; Casanova, Jean-Laurent; Bustamante, Jacinta 分享 收藏 Combined immunodeficiency in a patient with c-Rel deficiencyBeaussant-Cohen, Sarah; Jaber, Faris; Massaad, Michel J.; Weeks, Sabrina; Jones, Jennifer; Alosaimi, Mohammed F.; Wallace, Jacqueline; Al-Herz, Waleed; Geha, Raif S.; Chou, Janet 分享 收藏 Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous PopulationAl-Herz, Waleed; Chou, Janet; Delmonte, Ottavia Maria; Massaad, Michel J.; Bainter, Wayne; Castagnoli, Riccardo; Klein, Christoph; Bryceson, Yenan T.; Geha, Raif S.; Notarangelo, Luigi D. 分享 收藏 分享 收藏 
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