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

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

Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency

除了皮肤科表现之外:脯氨酸酶缺乏症的多系统受累

Gungoren, Ezgi Yalcin; Meric, Zeynep; Sefer, Asena Pinar; Deveci Ozkan, Asuman; Can, Salim; Babayeva, Royala; Kasap, Nurhan; Nain, Ercan; Ozek Yucel, Esra; Kiykim, Ayca; Bilgic-Eltan, Sevgi; Yucelten, Ayse Deniz; Karakoc-Aydiner, Elif; Ozen, Ahmet; Baris, Safa

LTβR deficiency causes lymph node aplasia and impaired B cell differentiation.

LTβR 缺乏会导致淋巴结发育不全和 B 细胞分化受损

Ransmayr Bernhard, Bal Sevgi Köstel, Thian Marini, Svaton Michael, van de Wetering Cheryl, Hafemeister Christoph, Segarra-Roca Anna, Block Jana, Frohne Alexandra, Krolo Ana, Altunbas Melek Yorgun, Bilgic-Eltan Sevgi, Kıykım Ayça, Aydiner Omer, Kesim Selin, Inanir Sabahat, Karakoc-Aydiner Elif, Ozen Ahmet, Aba Ümran, Çomak Aylin, Tuğcu Gökçen Dilşa, Pazdzior Robert, Huber Bettina, Farlik Matthias, Kubicek Stefan, von Bernuth Horst, Simonitsch-Klupp Ingrid, Rizzi Marta, Halbritter Florian, Tumanov Alexei V, Kraakman Michael J, Metin Ayşe, Castanon Irinka, Erman Baran, Baris Safa, Boztug Kaan

Insights into Patient Experiences with Facilitated Subcutaneous Immunoglobulin Therapy in Primary Immune Deficiency: A Prospective Observational Cohort

深入探究原发性免疫缺陷患者接受皮下注射免疫球蛋白辅助治疗的体验:一项前瞻性观察队列研究

Yalcin Gungoren, Ezgi; Yorgun Altunbas, Melek; Dikici, Ummugulsum; Meric, Zeynep; Eser Simsek, Isil; Kiykim, Ayca; Can, Salim; Karabiber, Esra; Yakici, Nalan; Orhan, Fazil; Cokugras, Haluk; Aydogan, Metin; Ozdemir, Oner; Bilgic Eltan, Sevgi; Baris, Safa; Ozen, Ahmet; Karakoc-Aydiner, Elif

Corrigendum to "Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients" [Clinical Immunology 255 (2023) 109757]

对“扩展 PAX1 缺陷型 SCID 和 CID 患者的临床和免疫表型”的更正 [临床免疫学 255 (2023) 109757]

Yakici, Nalan; Kreins, Alexandra Y; Catak, Mehmet Cihangir; Babayeva, Royala; Erman, Baran; Kenney, Heather; Eke-Gungor, Hatice; Cea, Pablo A; Kawai, Tomoki; Bosticardo, Marita; Delmonte, Ottavia Maria; Adams, Stuart; Fan, Yu-Tong; Pala, Francesca; Turkyilmaz, Ayberk; Howley, Evey; Worth, Austen; Kot, Hakan; Sefer, Asena Pinar; Kara, Altan; Bulutoglu, Alper; Bilgic-Eltan, Sevgi; Yorgun Altunbas, Melek; Bayram Catak, Feyza; Karakus, Ibrahim Serhat; Karatay, Emrah; Tekeoglu, Sidem Didar; Eser, Metin; Albayrak, Davut; Citli, Senol; Kiykim, Ayca; Karakoc-Aydiner, Elif; Ozen, Ahmet; Ghosh, Sujal; Gohlke, Holger; Orhan, Fazil; Notarangelo, Luigi D; Davies, E Graham; Baris, Safa

Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency

CARMIL2缺陷引起的联合免疫缺陷的演变和长期预后

Kolukisa, Burcu; Baser, Dilek; Akcam, Bengu; Danielson, Jeffrey; Bilgic Eltan, Sevgi; Haliloglu, Yesim; Sefer, Asena Pinar; Babayeva, Royale; Akgun, Gamze; Charbonnier, Louis-Marie; Schmitz-Abe, Klaus; Kendir Demirkol, Yasemin; Zhang, Yu; Gonzaga-Jauregui, Claudia; Jimenez Heredia, Raul; Kasap, Nurhan; Kiykim, Ayca; Ozek Yucel, Esra; Gok, Veysel; Unal, Ekrem; Pac Kisaarslan, Aysenur; Nepesov, Serdar; Baysoy, Gokhan; Onal, Zerrin; Yesil, Gozde; Celkan, Tulin Tiraje; Cokugras, Haluk; Camcioglu, Yildiz; Eken, Ahmet; Boztug, Kaan; Lo, Bernice; Karakoc-Aydiner, Elif; Su, Helen C; Ozen, Ahmet; Chatila, Talal A; Baris, Safa