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

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them

134种生殖系PU.1变异体及其携带者的无丙种球蛋白血症患者

Knox, Ainsley V C; Cominsky, Lauren Y; Sun, Di; Cruz Cabrera, Emylette; Nolan, Brian E; Ofray, Edann; Benetti, Elisa; Visconti, Camilla; Barzaghi, Federica; Rosenzweig, Sergio D; Lawrence, Monica G; Sullivan, Kathleen E; Yoon, Samuel; Rachimi, Suzanna; Padem, Nurcicek; Conboy, Erin; Stojanovic, Maja; Petrovic, Gordana; Pasic, Srdjan; Church, Joseph; Ferdman, Ronald M; Candotti, Fabio; Arlabosse, Tiphaine; Theodoropoulou, Katerina; Dutmer, Cullen M; Maródi, László; Szücs, Gabriella; Broides, Arnon; Nahum, Amit; Levy, Jacov; Kettunen, Kaisa; Daddali, Ravindra; Seppänen, Mikko; Vänttinen, Markku; Martelius, Timi; Grönholm, Juha; Peri, Matilde; Azzari, Chiara; Ricci, Silvia; Ojaimi, Samar; Edwards, Emily S J; van Zelm, Menno C; Sun, Jinqiao; Abolhassani, Hassan; Pan-Hammarström, Qiang; Hakonarson, Hakon; Mayr, Daniel; Boztug, Kaan; Boisson, Bertrand; Casanova, Jean-Laurent; Le Coz, Carole; Poon, Gregory M K; Romberg, Neil

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

对人类 RAG 缺陷的多组学分析揭示了独特的免疫失调模式,但具有共同的炎症特征。

Bosticardo Marita, Dobbs Kerry, Delmonte Ottavia M, Martins Andrew J, Pala Francesca, Kawai Tomoki, Kenney Heather, Magro Gloria, Rosen Lindsey B, Yamazaki Yasuhiro, Yu Hsin-Hui, Calzoni Enrica, Lee Yu Nee, Liu Can, Stoddard Jennifer, Niemela Julie, Fink Danielle, Castagnoli Riccardo, Ramba Meredith, Cheng Aristine, Riley Deanna, Oikonomou Vasileios, Shaw Elana, Belaid Brahim, Keles Sevgi, Al-Herz Waleed, Cancrini Caterina, Cifaldi Cristina, Baris Safa, Sharapova Svetlana, Schuetz Catharina, Gennery Andrew R, Freeman Alexandra F, Somech Raz, Choo Sharon, Giliani Silvia C, Güngör Tayfun, Drozdov Daniel, Meyts Isabelle, Moshous Despina, Neven Benedicte, Abraham Roshini S, El-Marsafy Aisha, Kanariou Maria, King Alejandra, Licciardi Francesco, Cruz-Muñoz Mario E, Palma Paolo, Poli Cecilia, Adeli Mehdi, Algeri Mattia, Alroqi Fayhan J, Bastard Paul, Bergerson Jenna R E, Booth Claire, Brett Ana, Burns Siobhan O, Butte Manish J, Padem Nurcicek, de la Morena M, Dbaibo Ghassan, de Ravin Suk See, Dimitrova Dimana, Djidjik Reda, Dorna Mayra B, Dutmer Cullen M, Elfeky Reem, Facchetti Fabio, Fuleihan Ramsay L, Geha Raif S, Gonzalez-Granado Luis I, Haljasmägi Liis, Ale Hanadys, Hayward Anthony, Hifanova Anna M, Ip Winnie, Kaplan Blanka, Kapoor Neena, Karakoc-Aydiner Elif, Kärner Jaanika, Keller Michael D, Dávila Saldaña Blachy J, Kiykim Ayça, Kuijpers Taco W, Kuznetsova Elena E, Latysheva Elena A, Leiding Jennifer W, Locatelli Franco, Alva-Lozada Guisela, McCusker Christine, Celmeli Fatih, Morsheimer Megan, Ozen Ahmet, Parvaneh Nima, Pasic Srdjan, Plebani Alessandro, Preece Kahn, Prockop Susan, Sakovich Inga S, Starkova Elena E, Torgerson Troy, Verbsky James, Walter Jolan E, Ward Brant, Wisner Elizabeth L, Draper Deborah, Myint-Hpu Katherine, Truong Pooi M, Lionakis Michail S, Similuk Morgan B, Walkiewicz Magdalena A, Klion Amy, Holland Steven M, Oguz Cihan, Bogunovic Dusan, Kisand Kai, Su Helen C, Tsang John S, Kuhns Douglas, Villa Anna, Rosenzweig Sergio D, Pittaluga Stefania, Notarangelo Luigi D

Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency.

部分 RAG 缺乏症炎症性肠病的免疫病理学和微生物学特征

Castagnoli Riccardo, Pala Francesca, Subramanian Poorani, Oguz Cihan, Schwarz Benjamin, Lim Ai Ing, Burns Andrew S, Fontana Elena, Bosticardo Marita, Corsino Cristina, Angelova Angelina, Delmonte Ottavia M, Kenney Heather, Riley Deanna, Smith Grace, Ott de Bruin Lisa, Oikonomou Vasileios, Dos Santos Dias Lucas, Fink Danielle, Bohrnsen Eric, Kimzey Cole D, Marseglia Gian Luigi, Alva-Lozada Guisela, Bergerson Jenna R E, Brett Ana, Brigatti Karlla W, Dimitrova Dimana, Dutmer Cullen M, Freeman Alexandra F, Ale Hanadys, Holland Steven M, Licciardi Francesco, Pasic Srdjan, Poskitt Laura E, Potts David E, Dasso Joseph F, Sharapova Svetlana O, Strauss Kevin A, Ward Brant R, Yilmaz Melis, Kuhns Douglas B, Lionakis Michail S, Daley Stephen R, Kong Heidi H, Segre Julia A, Villa Anna, Pittaluga Stefania, Walter Jolan E, Vujkovic-Cvijin Ivan, Belkaid Yasmine, Notarangelo Luigi D

Association of Antiphospholipid Antibodies with Clinical Manifestations in Children with Systemic Lupus Erythematosus

抗磷脂抗体与系统性红斑狼疮患儿临床表现的相关性

Petrovic, Gordana; Pasic, Srdjan; Soldatovic, Ivan

Analysis of cardiac manifestation and treatment of multisystem inflammatory syndrome in children related to SARS-CoV-2

对儿童SARS-CoV-2相关多系统炎症综合征的心脏表现及治疗进行分析

Krasic, Stasa; Ninic, Sanja; Prijic, Sergej; Popovic, Sasa; Pasic, Srdjan; Petrovic, Gordana; Zec, Boris; Ristic, Snezana; Nesic, Dejan; Nikolic, Luka; Vukomanovic, Vladislav

Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021

2004年至2021年间,30个J项目国家先天性免疫缺陷患者的护理情况

Abolhassani, Hassan; Avcin, Tadej; Bahceciler, Nerin; Balashov, Dmitry; Bata, Zsuzsanna; Bataneant, Mihaela; Belevtsev, Mikhail; Bernatowska, Ewa; Bidló, Judit; Blazsó, Péter; Boisson, Bertrand; Bolkov, Mikhail; Bondarenko, Anastasia; Boyarchuk, Oksana; Bundschu, Anna; Casanova, Jean-Laurent; Chernishova, Liudmyla; Ciznar, Peter; Csürke, Ildikó; Erdős, Melinda; Farkas, Henriette; Fomina, Daria S; Galal, Nermeen; Goda, Vera; Guner, Sukru Nail; Hauser, Péter; Ilyina, Natalya I; Iremadze, Teona; Iritsyan, Sevan; Ismaili-Jaha, Vlora; Jesenak, Milos; Kelecic, Jadranka; Keles, Sevgi; Kindle, Gerhard; Kondratenko, Irina V; Kostyuchenko, Larysa; Kovzel, Elena; Kriván, Gergely; Kuli-Lito, Georgina; Kumánovics, Gábor; Kurjane, Natalja; Latysheva, Elena A; Latysheva, Tatiana V; Lázár, István; Markelj, Gasper; Markovic, Maja; Maródi, László; Mammadova, Vafa; Medvecz, Márta; Miltner, Noémi; Mironska, Kristina; Modell, Fred; Modell, Vicki; Mosdósi, Bernadett; Mukhina, Anna A; Murdjeva, Marianna; Műzes, Györgyi; Nabieva, Umida; Nasrullayeva, Gulnara; Naumova, Elissaveta; Nagy, Kálmán; Onozó, Beáta; Orozbekova, Bubusaira; Pac, Malgorzata; Pagava, Karaman; Pampura, Alexander N; Pasic, Srdjan; Petrosyan, Mery; Petrovic, Gordana; Pocek, Lidija; Prodeus, Andrei P; Reisli, Ismail; Ress, Krista; Rezaei, Nima; Rodina, Yulia A; Rumyantsev, Alexander G; Sciuca, Svetlana; Sediva, Anna; Serban, Margit; Sharapova, Svetlana; Shcherbina, Anna; Sitkauskiene, Brigita; Snimshchikova, Irina; Spahiu-Konjusha, Shqipe; Szolnoky, Miklós; Szűcs, Gabriella; Toplak, Natasa; Tóth, Beáta; Tsyvkina, Galina; Tuzankina, Irina; Vlasova, Elena; Volokha, Alla

Case Report: Early Onset Systemic Lupus Erythematosus Due to Hereditary C1q Deficiency Treated With Fresh Frozen Plasma

病例报告:由遗传性C1q缺乏症引起的早发性系统性红斑狼疮采用新鲜冰冻血浆治疗

Zecevic, Milica; Minic, Aleksandra; Pasic, Srdjan; Perovic, Vladimir; Prohászka, Zoltán

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

斯拉夫国家82例RAG缺陷患者的临床和遗传谱,包括c.256_257delAA创始变异

Sharapova, Svetlana O; Skomska-Pawliszak, Małgorzata; Rodina, Yulia A; Wolska-Kuśnierz, Beata; Dabrowska-Leonik, Nel; Mikołuć, Bozena; Pashchenko, Olga E; Pasic, Srdjan; Freiberger, Tomáš; Milota, Tomáš; Formánková, Renata; Szaflarska, Anna; Siedlar, Maciej; Avčin, Tadej; Markelj, Gašper; Ciznar, Peter; Kalwak, Krzysztof; Kołtan, Sylwia; Jackowska, Teresa; Drabko, Katarzyna; Gagro, Alenka; Pac, Małgorzata; Naumova, Elissaveta; Kandilarova, Snezhina; Babol-Pokora, Katarzyna; Varabyou, Dzmitry S; Barendregt, Barbara H; Raykina, Elena V; Varlamova, Tatiana V; Pavlova, Anna V; Grombirikova, Hana; Debeljak, Maruša; Mersiyanova, Irina V; Bondarenko, Anastasiia V; Chernyshova, Liudmyla I; Kostyuchenko, Larysa V; Guseva, Marina N; Rascon, Jelena; Muleviciene, Audrone; Preiksaitiene, Egle; Geier, Christoph B; Leiss-Piller, Alexander; Yamazaki, Yasuhiro; Kawai, Tomoki; Walter, Jolan E; Kondratenko, Irina V; Šedivá, Anna; van der Burg, Mirjam; Kuzmenko, Natalia B; Notarangelo, Luigi D; Bernatowska, Ewa; Aleinikova, Olga V

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders

造血细胞移植治疗DNA双链断裂修复障碍的疗效

Slack, James; Albert, Michael H; Balashov, Dmitry; Belohradsky, Bernd H; Bertaina, Alice; Bleesing, Jack; Booth, Claire; Buechner, Jochen; Buckley, Rebecca H; Ouachée-Chardin, Marie; Deripapa, Elena; Drabko, Katarzyna; Eapen, Mary; Feuchtinger, Tobias; Finocchi, Andrea; Gaspar, H Bobby; Ghosh, Sujal; Gillio, Alfred; Gonzalez-Granado, Luis I; Grunebaum, Eyal; Güngör, Tayfun; Heilmann, Carsten; Helminen, Merja; Higuchi, Kohei; Imai, Kohsuke; Kalwak, Krzysztof; Kanazawa, Nubuo; Karasu, Gülsün; Kucuk, Zeynep Y; Laberko, Alexandra; Lange, Andrzej; Mahlaoui, Nizar; Meisel, Roland; Moshous, D; Muramatsu, Hideki; Parikh, Suhag; Pasic, Srdjan; Schmid, Irene; Schuetz, Catharina; Schulz, Ansgar; Schultz, Kirk R; Shaw, Peter J; Slatter, Mary A; Sykora, Karl-Walter; Tamura, Shinobu; Taskinen, Mervi; Wawer, Angela; Wolska-Kuśnierz, Beata; Cowan, Morton J; Fischer, Alain; Gennery, Andrew R

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

176例接受或未接受造血干细胞移植治疗的X连锁高IgM综合征患者的长期疗效

de la Morena, M Teresa; Leonard, David; Torgerson, Troy R; Cabral-Marques, Otavio; Slatter, Mary; Aghamohammadi, Asghar; Chandra, Sharat; Murguia-Favela, Luis; Bonilla, Francisco A; Kanariou, Maria; Damrongwatanasuk, Rongras; Kuo, Caroline Y; Dvorak, Christopher C; Meyts, Isabelle; Chen, Karin; Kobrynski, Lisa; Kapoor, Neena; Richter, Darko; DiGiovanni, Daniela; Dhalla, Fatima; Farmaki, Evangelia; Speckmann, Carsten; Español, Teresa; Shcherbina, Anna; Hanson, Imelda Celine; Litzman, Jiri; Routes, John M; Wong, Melanie; Fuleihan, Ramsay; Seneviratne, Suranjith L; Small, Trudy N; Janda, Ales; Bezrodnik, Liliana; Seger, Reinhard; Raccio, Andrea Gomez; Edgar, J David M; Chou, Janet; Abbott, Jordan K; van Montfrans, Joris; González-Granado, Luis Ignacio; Bunin, Nancy; Kutukculer, Necil; Gray, Paul; Seminario, Gisela; Pasic, Srdjan; Aquino, Victor; Wysocki, Christian; Abolhassani, Hassan; Dorsey, Morna; Cunningham-Rundles, Charlotte; Knutsen, Alan P; Sleasman, John; Costa Carvalho, Beatriz Tavares; Condino-Neto, Antonio; Grunebaum, Eyal; Chapel, Helen; Ochs, Hans D; Filipovich, Alexandra; Cowan, Mort; Gennery, Andrew; Cant, Andrew; Notarangelo, Luigi D; Roifman, Chaim M