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International multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disorders 国际多学科关于单基因炎性免疫失调障碍的定义和临床处理方法的共识 Alkwai, Hend M.; Almaghlouth, Ibrahim A.; Mendonca, Leonardo Oliveira; Elkhalifa, Shuayb; Abolhassani, Hassan; Aljumaah, Suliman; Al-Mousa, Hamoud; Alosaimi, Mohammed F.; AlSaleem, Alhanouf; Avcin, Tadej; Chan, Winnie K. Y.; Espada, Graciela; Fremond, Marie-Louise; Gul, Ahmet; Hadef, Djohra; Movahedi, Nasim; Wittkowski, Helmut; Al-Mayouf, Sulaiman M. 分享 收藏
The effects of postponing BCG vaccination on the risk of BCG-related complications among patients with severe combined immunodeficiency disease in Saudi Arabia 推迟卡介苗(BCG)疫苗接种对沙特阿拉伯重症联合免疫缺陷病患者中卡介苗相关并发症风险的影响 Aldhaheri, Amal; Alyabes, Ohoud; Aljumaah, Suliman; Alhuthil, Raghad; Alonazi, Raghad; Alamoudi, Shefa; Alsuhaibani, Mohammed; Alghamdi, Salem; Albanyan, Esam A.; Al-Hajjar, Sami; Mohammed, Reem; Arnaout, Rand; Albuhairi, Sultan; Alrumayyan, Nora; Al-Saud, Bandar; Al-Mousa, Hamoud 分享 收藏
Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency 造血干细胞移植治疗5例常染色体隐性RIPK1-Deficiency的疗效分析 Walsh, Rebecca B.; Mcnaughton, Peter; Nademi, Zohreh; Laberko, Alexandra; Balashov, Dmitry; Al-Mousa, Hamoud; Arkwright, Peter D.; Wynn, Robert F.; Flood, Terry; Williams, Eleri; Cant, Andrew; Abinun, Mario; Hambleton, Sophie; Slatter, Mary; Gennery, Andrew R.; Lum, Su Han; Owens, Stephen 分享 收藏
Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity Alajlan, Huda; Raducanu, Vlad-Stefan; de los Santos, Yossef Lopez; Tehseen, Muhammad; Alruwaili, Hibah; Al-Mazrou, Amer; Mohammad, Reem; Al-Alwan, Monther; De Biasio, Alfredo; Merzaban, Jasmeen S.; Al-Mousa, Hamoud; Hamdan, Samir M.; Alazami, Anas M. 分享 收藏
Outcome of BCG Vaccination in ADA-SCID Patients: A 12-Patient Series Canarutto, Daniele; Oltolini, Chiara; Barzaghi, Federica; Calbi, Valeria; Migliavacca, Maddalena; Tucci, Francesca; Gallo, Vera; Consiglieri, Giulia; Ferrua, Francesca; Recupero, Salvatore; Cervi, Maria Celia; Al-Mousa, Hamoud; Pituch-Noworolska, Anna; Tassan Din, Chiara; Scarpellini, Paolo; Silvani, Paolo; Fossati, Claudia; Casiraghi, Miriam; Cirillo, Daniela Maria; Castagna, Antonella; Bernardo, Maria Ester; Aiuti, Alessandro; Cicalese, Maria Pia 分享 收藏
Quality of Life Evaluation in Saudi Arabian Pediatric Patients with Primary Immunodeficiency Diseases Receiving 20% Subcutaneous IgG Infusions at Home Al-Saud, Bandar; AlRumayyan, Nora; Alfattani, Areej; Abu Awwad, Sawsan; Al Saud, Dema; Mohammed, Reem; Albuhairi, Sultan; Elshorbagi, Sahar; Balhareth, Sakra S.; Al-Dhekri, Hasan; Arnaout, Rand; De Vol, Edward B.; Al-Mousa, Hamoud 分享 收藏
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A homozygous truncating mutation of FGL2 is associated with immune dysregulation Janssen, Erin; Alosaimi, Mohammad F.; Alazami, Anas M.; Alsuliman, Abdullah; Alaiya, Ayodele; Al-Saud, Bandar; Al-Mousa, Hamoud; Al-Zaid, Tariq Jassim; Smith, Emma; Platt, Craig D.; Alruwaili, Hibah; Albanyan, Sarah; Al-Mayouf, Sulaiman M.; 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
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency Levy, Romain; Gothe, Florian; Momenilandi, Mana; Magg, Thomas; Materna, Marie; Peters, Philipp; Raedler, Johannes; Philippot, Quentin; Rack-Hoch, Anita Lena; Langlais, David; Bourgey, Mathieu; Lanz, Anna-Lisa; Ogishi, Masato; Rosain, Jeremie; Martin, Emmanuel; Latour, Sylvain; Vladikine, Natasha; Distefano, Marco; Khan, Taushif; Rapaport, Franck; Schulz, Marian S.; Holzer, Ursula; Fasth, Anders; Sogkas, Georgios; Speckmann, Carsten; Troilo, Arianna; Bigley, Venetia; Roppelt, Anna; Dinur-Schejter, Yael; Toker, Ori; Martinsen, Karen Helene Bronken; Sherkat, Roya; Somekh, Ido; Somech, Raz; Shouval, Dror S.; Kuehl, Joern-Sven; Ip, Winnie; McDermott, Elizabeth M.; Cliffe, Lucy; Ozen, Ahmet; Baris, Safa; Rangarajan, Hemalatha G.; Jouanguy, Emmanuelle; Puel, Anne; Bustamante, Jacinta; Alyanakian, Marie-Alexandra; Fusaro, Mathieu; Wang, Yi; Kong, Xiao-Fei; Cobat, Aurelie; Boutboul, David; Castelle, Martin; Aguilar, Claire; Hermine, Olivier; Cheminant, Morgane; Suarez, Felipe; Yildiran, Alisan; Bousfiha, Aziz; Al-Mousa, Hamoud; Alsohime, Fahad; Cagdas, Deniz; Abraham, Roshini S.; Knutsen, Alan P.; Fevang, Borre; Bhattad, Sagar; Kiykim, Ayca; Erman, Baran; Arikoglu, Tugba; Unal, Ekrem; Kumar, Ashish; Geier, Christoph B.; Baumann, Ulrich; Neven, Benedicte; Rohlfs, Meino; Walz, Christoph; Abel, Laurent; Malissen, Bernard; Marr, Nico; Klein, Christoph; Casanova, Jean-Laurent; Hauck, Fabian; Beziat, Vivien 分享 收藏
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia Sheikh, Farrukh; Alajlan, Huda; Albanyan, Maram; Alruwaili, Hibah; Alawami, Fatimah; Sumayli, Safia; Al Gazlan, Sulaiman; Abu Awwad, Sawsan; Al-Dhekri, Hasan; Al-Saud, Bandar; Arnaout, Rand; Alrayes, Hassan; Sayes, Najla; Al-Hamed, Mohamed H.; Al-Mousa, Hamoud; AlShareef, Saad; Alazami, Anas M. 分享 收藏
Proteomics Profiling to Distinguish DOCK8 Deficiency From Atopic Dermatitis Jacob, Minnie; Masood, Afshan; Shinwari, Zakiya; Jabbar, Mai Abdel; Al-Mousa, Hamoud; Arnaout, Rand; AlSaud, Bandar; Dasouki, Majed; Alaiya, Ayodele A.; Rahman, Anas M. Abdel M. 分享 收藏
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency Le Voyer, Tom; Sakata, Sonoko; Tsumura, Miyuki; Khan, Taushif; Esteve-Sole, Ana; Al-Saud, Bandar K.; Gungor, Hatice Eke; Taur, Prasad; Jeanne-Julien, Valentine; Christiansen, Mette; Koehler, Lisa-Maria; ElGhazali, Gehad Eltayeb; Rosain, Jeremie; Nishimura, Shiho; Sakura, Fumiaki; Bouaziz, Matthieu; Oleaga-Quintas, Carmen; Nieto-Patlan, Alejandro; Deya-Martinez, Angela; Torun, Yasemin Altuner; Neehus, Anna-Lena; Roynard, Manon; Bozdemir, Sefika Elmas; Al Kaabi, Nawal; Al Hassani, Moza; Mersiyanova, Irina; Rozenberg, Flore; Speckmann, Carsten; Hainmann, Ina; Hauck, Fabian; Alzahrani, Mohammed Hamdan; Alhajjar, Sami Hussain; Al-Muhsen, Saleh; Cole, Theresa; Fuleihan, Ramsay; Arkwright, Peter D.; Badolato, Raffaele; Alsina, Laia; Abel, Laurent; Desai, Mukesh; Al-Mousa, Hamoud; Shcherbina, Anna; Marr, Nico; Boisson-Dupuis, Stephanie; Casanova, Jean-Laurent; Okada, Satoshi; Bustamante, Jacinta 分享 收藏
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Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients Aljohani, Amal H.; Al-Mousa, Hamoud; Arnaout, Rand; Al-Dhekri, Hasan; Mohammed, Reem; Alsum, Zobaida; Nicolas-Jilwan, Manal; Alrogi, Fayhan; Al-Muhsen, Saleh; Alazami, Anas M.; Al-Saud, Bandar 分享 收藏
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TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity TREC和KREC分析代表患有各种先天性免疫缺陷的患者的胸腺和骨髓输出 Dasouki, M.; Jabr, A.; AlDakheel, G.; Elbadaoui, F.; Alazami, A. M.; Al-Saud, B.; Arnaout, R.; Aldhekri, H.; Alotaibi, I; Al-Mousa, H.; Hawwari, A. 分享 收藏
Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation Chou, 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