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

Multidimensional Assessment of Patient-Reported-Outcomes in a Multicenter Cohort of Inborn Errors of Immunity

多中心先天性免疫缺陷队列中患者报告结局的多维度评估

Yorgun Altunbas, Melek; Sefer, Asena Pinar; Bilgic-Eltan, Sevgi; Yildirimcakar, Cebbar; Ozturk, Pelin; Dikici, Ümmügülsüm; Tüsüz Önata, Ece; Atik, Özge; Eke-Gungor, Hatice; Kolukisa, Burcu; Bekis Bozkurt, Hayrunnisa; Kocatepe, Gaye; Kökcü Karadağ, Şefika İlknur; İlhan Yalaki, Aysu; Canitez Oral, Zeycan; Iskender, Nagihan; Kıratlı Yolcu, Tuğba Kıratlı; Şirin, Dilan; Gumusburun, Reyhan; Tekcan, Demet; Celik, Iknur Kulhas; Can, Salim; Amirov, Razin; Ozturk, Necmiye; Bozkurt, Selcen; Colak, Burkay Cagan; Mahmudov, Ramin; Yalcın Gungoren, Ezgi; Karabiber, Esra; Artac, Hasibe; Ardeniz, Omur; Eser Simsek, Isıl; Çelmeli, Fatih; Arikoglu, Tuğba; Özçeker, Deniz; Kocacik Uygun, Dilara; Bingol, Aysen; Tepetam, Fatma Merve; Özdemir, Öner; Ar, Muhlis Cem; Arik Yilmaz, Ebru; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif

The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants

安纳托利亚中部一家三级参考中心在携带 ZAP-70 变异体(包括两种新变异体)的儿童中的经验

Göktaş, Serdar; Kalaycik Sengul, Ozlem; Erdem, Şerife; Eke Güngör, Hatice; Babayeva, Royala; Bilgic-Eltan, Sevgi; Güzel, Turan; Dörterler, Koray; Rohlfs, Meino; Özcan, Alper; Yilmaz, Ebru; Karakukcu, Musa; Akar, Haluk Himmet; Karakoc-Aydiner, Elif; Özen, Ahmet; Elmas, Muhsin; Patiroğlu, Türkan; Doğan, Muhammet E; Baş, Hasan; Taylor, Naomi; Baris, Safa; Klein, Christoph; Eken, Ahmet; Ünal, Ekrem

A Comprehensive Assessment of Health-Related Quality of Life in Hereditary Angioedema as a Patient-Centered Approach

以患者为中心的遗传性血管性水肿患者健康相关生活质量综合评估

Yalcin Gungoren, Ezgi; Karabiber, Esra; Yorgun Altunbas, Melek; Can, Salim; Tusuz Onata, Ece; Atik, Ozge; Dikici, Ummugulsum; Meric, Zeynep; Ozanli, Ismail; Amirov, Razin; Ozturk, Necmiye; Bozkurt, Selcen; Eser Simsek, Isil; Kiykim, Ayca; Ozek Yucel, Esra; Bogatekin, Gulhan; Aydogan, Metin; Tepetam, Fatma Merve; Ozdemir, Oner; Yilmaz, Ebru Arik; Mete Gokmen, Emine Nihal; Bilgic-Eltan, Sevgi; Baris, Safa; Ozen, Ahmet; Karakoc-Aydiner, Elif

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

IgG4-Related Disease: Emerging Roles of Novel Genetic Variants, Immune Cell Subsets and Therapeutic Targets

IgG4相关疾病:新型基因变异、免疫细胞亚群和治疗靶点的新兴作用

Tedesco, Louisa; Ali, Syed B; Erman, Baran; Baris, Safa; Pant, Harshita; Hissaria, Pravin; Bilginer, Yelda; Tumes, Damon J; Cildir, Gökhan

Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP

32例JAGN1缺陷患者的扩展临床表型和治疗方式:ESID和EBMT IEWP的多中心研究

Fekadu-Siebald, Julia; Salzmann-Manrique, Emilia; Heusel, Jan Robert; Willasch, Andre; Hauck, Fabian; Gonzalez-Granado, Luis Ignacio; Chavoshzadeh, Zahra; Sharafian, Samin; Cuntz, Franziska; Baris, Safa; Finocchi, Andrea; Algeri, Mattia; Sherkat, Roya; Klaudel-Dreszler, Maja; Zeidler, Cornelia; Bellanné-Chantelot, Christine; Kindle, Gerhard; Beaupain, Blandine; Paillard, Catherine; Seidel, Markus; Bader, Peter; Albert, Michael H; Neven, Bénédicte; Donadieu, Jean; Bakhtiar, Shahrzad

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis

超越皮肤层面:ALOX12B相关常染色体隐性先天性鱼鳞病的免疫学特征和感染并发症

Sefer, Asena Pinar; Catak, Mehmet Cihangir; An, Isa; Keser Ozturk, Necmiye; Baykal Selcuk, Leyla; Dincer, Oguz Salih; Benamar, Mehdi; Getachew, Feven; Schmitz-Abe, Klaus; Agrawal, Pankaj B; Bayram Catak, Feyza; Erman, Baran; Bilgic Eltan, Sevgi; Karakoc Aydiner, Elif; Ozen, Ahmet; Chatila, Talal; Baris, Safa

Activated PI3Kδ syndrome in inborn errors of immunity: diagnostic strategies and clinical challenges

先天性免疫缺陷中的PI3Kδ激活综合征:诊断策略和临床挑战

Bozkurt, Selcen; Ozturk, Necmiye; Altunbas, Melek Yorgun; Can, Salim; Amirov, Razin; Mahmudov, Ramin; Colak, Burkay Cagan; Karabiber, Esra; Baronio, Manuela; Lougaris, Vassilios; Tessarin, Giulio; Bilgic-Eltan, Sevgi; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif

Invasive Mould Infections in Chronic Granulomatous Disease: A Multicenter Study From Türkiye

慢性肉芽肿病中的侵袭性霉菌感染:一项来自土耳其的多中心研究

Ergenc, Zeynep; Eltan, Sevgi Bilgic; Karaaslan, Betul Gemici; Kiykim, Ayca; Tuncay, Sevgi Aslan; Yilmaz, Seyhan; Erdemli, Pinar Canizci; Dizi Isik, Aylin; Parlak, Burcu; Serbes, Mahir; Warris, Adilia; Ozen, Ahmet; Karakoc-Aydiner, Elif; Ozcan, Dilek; Cokugras, Haluk; Baris, Safa; Kepenekli, Eda

Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry

肌动蛋白相关先天性免疫缺陷的临床和分子研究结果:中东和北非登记研究

Chavoshzadeh, Zahra; Fallah, Shahrzad; Zeinali, Vahide; Sharafian, Samin; Delavari, Samaneh; Mesdaghi, Mehrnaz; Djidjik, Reda; Belaid, Brahim; Ikinciogullari, Aydan; Haskologlu, Sule; Dogu, Figen; Genel, Ferah; Gulez, Nesrin; Baris, Safa; Ozen, Ahmet; Karakoc-Aydiner, Elif; Kiykim, Ayça; Meric, Zeynep; Kutukculer, Necil; Aygun, Ayse; Aksu, Guzide; Karaca, Neslihan Edeer; Geyik, Mehmet; Keles, Sevgi; Reisli, Ismail; Nail Guner, Sukru; Boukari, Rachida; Hakem, Saliha; Belbouab, Reda; Barbouche, Mohamed-Ridha; Ben-Mustapha, Imen; Mekki, Najla; Ben-Ali, Meriem; Sobh, Ali; Elnagdy, Marwa; Djenouhat, Kamel; Tahiat, Azzeddine; Shendi, Hiba Mohammed; Alkuwaiti, Amna; Nasrullayeva, Gulnara; Alfars, Tariq; Alsukaiti, Nashat; Massaad, Michel; Mehawej, Cybel; Megarbane, Andre; Irani, Carla; Elghazali, Gehad; Al-Tamemi, Salem; Khalifa, Nisreen; Alzyoud, Raed; Gultekin, Sara Sebnem Kilic; Kose, Hulya; Khodaverdy, Hedieh; Shamsian, Bibi Shahin; Eslami, Narges; Momen, Tooba; Sherkat, Roya; Aleyasin, Soheila; Esmaeilzadeh, Hossein; Ahanchian, Hamid; Salami, Fereshte; Fekrvand, Saba; Dupre, Loïc; Ochs, Hans D; Rezaei, Nima; Al-Herz, Waleed; Abolhassani, Hassan