日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

原发性免疫缺陷病:基因组学方法揭示异质性孟德尔遗传病

Stray-Pedersen, Asbjørg; Sorte, Hanne Sørmo; Samarakoon, Pubudu; Gambin, Tomasz; Chinn, Ivan K; Coban Akdemir, Zeynep H; Erichsen, Hans Christian; Forbes, Lisa R; Gu, Shen; Yuan, Bo; Jhangiani, Shalini N; Muzny, Donna M; Rødningen, Olaug Kristin; Sheng, Ying; Nicholas, Sarah K; Noroski, Lenora M; Seeborg, Filiz O; Davis, Carla M; Canter, Debra L; Mace, Emily M; Vece, Timothy J; Allen, Carl E; Abhyankar, Harshal A; Boone, Philip M; Beck, Christine R; Wiszniewski, Wojciech; Fevang, Børre; Aukrust, Pål; Tjønnfjord, Geir E; Gedde-Dahl, Tobias; Hjorth-Hansen, Henrik; Dybedal, Ingunn; Nordøy, Ingvild; Jørgensen, Silje F; Abrahamsen, Tore G; Øverland, Torstein; Bechensteen, Anne Grete; Skogen, Vegard; Osnes, Liv T N; Kulseth, Mari Ann; Prescott, Trine E; Rustad, Cecilie F; Heimdal, Ketil R; Belmont, John W; Rider, Nicholas L; Chinen, Javier; Cao, Tram N; Smith, Eric A; Caldirola, Maria Soledad; Bezrodnik, Liliana; Lugo Reyes, Saul Oswaldo; Espinosa Rosales, Francisco J; Guerrero-Cursaru, Nina Denisse; Pedroza, Luis Alberto; Poli, Cecilia M; Franco, Jose L; Trujillo Vargas, Claudia M; Aldave Becerra, Juan Carlos; Wright, Nicola; Issekutz, Thomas B; Issekutz, Andrew C; Abbott, Jordan; Caldwell, Jason W; Bayer, Diana K; Chan, Alice Y; Aiuti, Alessandro; Cancrini, Caterina; Holmberg, Eva; West, Christina; Burstedt, Magnus; Karaca, Ender; Yesil, Gözde; Artac, Hasibe; Bayram, Yavuz; Atik, Mehmed Musa; Eldomery, Mohammad K; Ehlayel, Mohammad S; Jolles, Stephen; Flatø, Berit; Bertuch, Alison A; Hanson, I Celine; Zhang, Victor W; Wong, Lee-Jun; Hu, Jianhong; Walkiewicz, Magdalena; Yang, Yaping; Eng, Christine M; Boerwinkle, Eric; Gibbs, Richard A; Shearer, William T; Lyle, Robert; Orange, Jordan S; Lupski, James R

A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism

一种新的Rab27a突变可与黑素细胞蛋白结合,但不与Munc13-4结合,导致免疫缺陷但不引起白化病。

Netter, Petra; Chan, Sanny K; Banerjee, Pinaki P; Monaco-Shawver, Linda; Noroski, Lenora M; Hanson, Imelda C; Forbes, Lisa R; Mace, Emily M; Chinen, Javier; Gaspar, H Bobby; Sleiman, Patrick; Hakonarson, Hakon; Klein, Christoph; Ehlayel, Mohammad S; Orange, Jordan S

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

重新审视人类IL-12Rβ1缺乏症:一项对来自30个国家的141名患者的调查

de Beaucoudrey, Ludovic; Samarina, Arina; Bustamante, Jacinta; Cobat, Aurélie; Boisson-Dupuis, Stéphanie; Feinberg, Jacqueline; Al-Muhsen, Saleh; Jannière, Lucile; Rose, Yoann; de Suremain, Maylis; Kong, Xiao-Fei; Filipe-Santos, Orchidée; Chapgier, Ariane; Picard, Capucine; Fischer, Alain; Dogu, Figen; Ikinciogullari, Aydan; Tanir, Gonul; Al-Hajjar, Sami; Al-Jumaah, Suliman; Frayha, Husn H; AlSum, Zobaida; Al-Ajaji, Sulaiman; Alangari, Abdullah; Al-Ghonaium, Abdulaziz; Adimi, Parisa; Mansouri, Davood; Ben-Mustapha, Imen; Yancoski, Judith; Garty, Ben-Zion; Rodriguez-Gallego, Carlos; Caragol, Isabel; Kutukculer, Necil; Kumararatne, Dinakantha S; Patel, Smita; Doffinger, Rainer; Exley, Andrew; Jeppsson, Olle; Reichenbach, Janine; Nadal, David; Boyko, Yaryna; Pietrucha, Barbara; Anderson, Suzanne; Levin, Michael; Schandené, Liliane; Schepers, Kinda; Efira, André; Mascart, Françoise; Matsuoka, Masao; Sakai, Tatsunori; Siegrist, Claire-Anne; Frecerova, Klara; Blüetters-Sawatzki, Renate; Bernhöft, Jutta; Freihorst, Joachim; Baumann, Ulrich; Richter, Darko; Haerynck, Filomeen; De Baets, Frans; Novelli, Vas; Lammas, David; Vermylen, Christiane; Tuerlinckx, David; Nieuwhof, Chris; Pac, Malgorzata; Haas, Walther H; Müller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Levy, Jacob; Raj, Revathi; Cohen, Aileen Cleary; Lewis, David B; Holland, Steven M; Yang, Kuender D; Wang, Xiaochuan; Wang, Xiaohong; Jiang, Liping; Yang, Xiqiang; Zhu, Chaomin; Xie, Yuanyuan; Lee, Pamela Pui Wah; Chan, Koon Wing; Chen, Tong-Xin; Castro, Gabriela; Natera, Ivelisse; Codoceo, Ana; King, Alejandra; Bezrodnik, Liliana; Di Giovani, Daniela; Gaillard, Maria Isabel; de Moraes-Vasconcelos, Dewton; Grumach, Anete Sevciovic; da Silva Duarte, Alberto Jose; Aldana, Ruth; Espinosa-Rosales, Francisco Javier; Bejaoui, Mohammed; Bousfiha, Ahmed Aziz; Baghdadi, Jamila El; Özbek, Namik; Aksu, Guzide; Keser, Melike; Somer, Ayper; Hatipoglu, Nevin; Aydogmus, Çigdem; Asilsoy, Suna; Camcioglu, Yildiz; Gülle, Saniye; Ozgur, Tuba T; Ozen, Meteran; Oleastro, Matias; Bernasconi, Andrea; Mamishi, Setareh; Parvaneh, Nima; Rosenzweig, Sergio; Barbouche, Ridha; Pedraza, Sigifredo; Lau, Yu Lung; Ehlayel, Mohammad S; Fieschi, Claire; Abel, Laurent; Sanal, Ozden; Casanova, Jean-Laurent

Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.

白细胞介素 12 受体 β1 缺乏症的低外显率、广泛耐药性和良好预后:医学和免疫学意义

Fieschi Claire, Dupuis Stéphanie, Catherinot Emilie, Feinberg Jacqueline, Bustamante Jacinta, Breiman Adrien, Altare Frédéric, Baretto Richard, Le Deist Françoise, Kayal Samer, Koch Hartmut, Richter Darko, Brezina Martin, Aksu Guzide, Wood Phil, Al-Jumaah Suliman, Raspall Miquel, Da Silva Duarte Alberto José, Tuerlinckx David, Virelizier Jean-Louis, Fischer Alain, Enright Andrea, Bernhöft Jutta, Cleary Aileen M, Vermylen Christiane, Rodriguez-Gallego Carlos, Davies Graham, Blütters-Sawatzki Renate, Siegrist Claire-Anne, Ehlayel Mohammad S, Novelli Vas, Haas Walther H, Levy Jacob, Freihorst Joachim, Al-Hajjar Sami, Nadal David, De Moraes Vasconcelos Dewton, Jeppsson Olle, Kutukculer Necil, Frecerova Klara, Caragol Isabel, Lammas David, Kumararatne Dinakantha S, Abel Laurent, Casanova Jean-Laurent