31 results on '"Batu, Ezgi D."'
Search Results
2. The impact of the COVID-19 pandemic on pediatric rheumatology practice: an international, cross-sectional survey study
- Author
-
Batu, Ezgi D., Demirkan, Fatma Gül, Sag, Erdal, Lamot, Lovro, Faleye, Ayodele, Marrani, Edoardo, Ziv, Amit, Ardalan, Kaveh, Gmuca, Sabrina, Swart, Joost F., and Uziel, Yosef
- Published
- 2023
- Full Text
- View/download PDF
3. Diagnosing growing pains in children by using machine learning: a cross-sectional multicenter study
- Author
-
Akal, Fuat, Batu, Ezgi D., Sonmez, Hafize Emine, Karadağ, Şerife G., Demir, Ferhat, Ayaz, Nuray Aktay, and Sözeri, Betül
- Published
- 2022
- Full Text
- View/download PDF
4. Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus: A multicenter study
- Author
-
Kısaarslan, Ayşenur Paç, Çiçek, Sümeyra Özdemir, Batu, Ezgi D., Şahin, Sezgin, Gürgöze, Metin K., Çetinkaya, Sibel Balcı, Ekinci, Miray Kışla, Atmış, Bahriye, Barut, Kenan, Adrovic, Amra, Ağar, Buket Esen, Şahin, Nihal, Demir, Ferhat, Bağlan, Esra, Kara, Mehtap Akbalık, Selçuk, Şenay Zırhlı, Özdel, Semanur, Çomak, Elif, Akkoyunlu, Betül, Yener, Gülçin Otar, Yıldırım, Deniz Gezgin, Öztürk, Kübra, Yıldız, Mehmet, Haşlak, Fatih, Şener, Seher, Kısaoğlu, Hakan, Baba, Özge, Kızıldağ, Zehra, İşgüder, Rana, Çağlayan, Şengül, Bilgin, Raziye B. Güven, Aytaç, Gülçin, Yücel, Burcu Bozkaya, Tanatar, Ayşe, Sönmez, Hafize E., Çakan, Mustafa, Kara, Aslıhan, Elmas, Ahmet T., Kılıç, Beltinge Demircioğlu, Ayaz, Nuray Aktay, Kasap, Belde, Acar, Banu Çelikel, Ozkaya, Ozan, Yüksel, Selçuk, Bakkaloğlu, Sevcan, Aydoğ, Özlem, Aksu, Güzide, Akman, Sema, Dönmez, Osman, Bülbül, Mehmet, Büyükçelik, Mithat, Tabel, Yılmaz, Sözeri, Betül, Kalyoncu, Mukaddes, Bilginer, Yelda, Poyrazoğlu, Muammer H., Ünsal, Erbil, Kasapçopur, Özgür, Özen, Seza, and Düşünsel, Ruhan
- Published
- 2023
- Full Text
- View/download PDF
5. Probiotic use in the prophylaxis of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: a retrospective cohort study
- Author
-
Batu, Ezgi D., Kaya Akca, Ummusen, Basaran, Ozge, Bilginer, Yelda, and Özen, Seza
- Published
- 2022
- Full Text
- View/download PDF
6. Galectin-3: a new biomarker for differentiating periodic fever, adenitis, pharyngitis, aphthous stomatitis (PFAPA) syndrome from familial Mediterranean fever?
- Author
-
Batu, Ezgi D., Vezir, Emine, Öğüş, Elmas, Özbaş Demirel, Özlem, Akpınar, Gizem, Demir, Selcan, and Özen, Seza
- Published
- 2022
- Full Text
- View/download PDF
7. Deficiency of Interleukin 1 Receptor Antagonist (DIRA)
- Author
-
Batu, Ezgi D., primary, Berard, Roberta Audrey, additional, and Demirkaya, Erkan, additional
- Published
- 2020
- Full Text
- View/download PDF
8. A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet’s Disease
- Author
-
Taskiran, Ekim Z., Sonmez, Hafize E., Kosukcu, Can, Tavukcuoglu, Ece, Yazici, Gozde, Esendagli, Gunes, Batu, Ezgi D., Kiper, Pelin O. S., Bilginer, Yelda, Alikasifoglu, Mehmet, and Ozen, Seza
- Published
- 2019
- Full Text
- View/download PDF
9. The characteristics of patients with COVID-19-associated pediatric vasculitis: an international, multicenter study
- Author
-
Batu, Ezgi D, Sener, Seher, Ozomay Baykal, Gulcan, Arslanoglu Aydin, Elif, Özdel, Semanur, Gagro, Alenka, Esen, Esra, Heshin-Bekenstein, Merav, Akpınar Tekgöz, Nilufer, Demirkan, Fatma G, Ozturk, Kubra, Vougiouka, Olga, Sonmez, H Emine, Maggio, Maria Cristina, Kaya Akca, Ummusen, Jelusic, Marija, Pac Kısaarslan, Aysenur, Acar, Banu, Aktay Ayaz, Nuray, Sözeri, Betül, Özen, Seza, Batu, Ezgi D, Sener, Seher, Ozomay Baykal, Gulcan, Arslanoglu Aydin, Elif, Özdel, Semanur, Gagro, Alenka, Esen, Esra, Heshin-Bekenstein, Merav, Akpınar Tekgöz, Nilufer, Demirkan, Fatma G, Ozturk, Kubra, Vougiouka, Olga, Sonmez, H Emine, Maggio, Maria Cristina, Kaya Akca, Ummusen, Jelusic, Marija, Pac Kısaarslan, Aysenur, Acar, Banu, Aktay Ayaz, Nuray, Sözeri, Betül, and Özen, Seza
- Subjects
Male ,Vasculitis* / epidemiology ,Pediatric Vasculiti ,Adolescent ,Vasculitis* / etiology ,Kawasaki disease ,SARS-CoV-2 ,Immunology ,COVID-19 ,MIS-C ,IgA Vasculitis* / epidemiology ,Immunoglobulin A ,Mucocutaneous Lymph Node Syndrome* / complications ,Settore MED/38 - Pediatria Generale E Specialistica ,Rheumatology ,COVID-19* / complications ,IgA Vasculitis* / complications ,IgA Vasculitis* / drug therapy ,Immunology and Allergy ,Humans ,Female ,Child - Abstract
Objective: COVID-19-associated pediatric vasculitis, other than Kawasaki disease (KD)-like vasculitis in multisystem inflammatory syndrome in children (MIS-C), is very rare. This study sought to analyze the characteristics, treatment, and outcomes in patients with COVID-19-associated pediatric vasculitis (excluding KD-like vasculitis in MIS-C). Methods: The inclusion criteria were as follows: 1) age
- Published
- 2022
10. The impact of the COVID-19 pandemic on pediatric rheumatology practice: an international, cross-sectional survey study
- Author
-
Research UMC Utrecht, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Batu, Ezgi D., Demirkan, Fatma Gül, Sag, Erdal, Lamot, Lovro, Faleye, Ayodele, Marrani, Edoardo, Ziv, Amit, Ardalan, Kaveh, Gmuca, Sabrina, Swart, Joost F., Uziel, Yosef, Research UMC Utrecht, Immuno/reuma patientenzorg, Child Health, Infection & Immunity, Batu, Ezgi D., Demirkan, Fatma Gül, Sag, Erdal, Lamot, Lovro, Faleye, Ayodele, Marrani, Edoardo, Ziv, Amit, Ardalan, Kaveh, Gmuca, Sabrina, Swart, Joost F., and Uziel, Yosef
- Published
- 2023
11. Editorial: DADA2 and other monogenic vasculitides
- Author
-
Lee, Pui Y., primary, Batu, Ezgi D., additional, and Ozen, Seza, additional
- Published
- 2022
- Full Text
- View/download PDF
12. The Characteristics of Patients With COVID‐19–Associated Pediatric Vasculitis: An International, Multicenter Study.
- Author
-
Batu, Ezgi D., Sener, Seher, Ozomay Baykal, Gulcan, Arslanoglu Aydin, Elif, Özdel, Semanur, Gagro, Alenka, Esen, Esra, Heshin‐Bekenstein, Merav, Akpınar Tekgöz, Nilüfer, Demirkan, Fatma G., Ozturk, Kubra, Vougiouka, Olga, Sonmez, H. Emine, Maggio, Maria Cristina, Kaya Akca, Ummusen, Jelusic, Marija, Pac Kısaarslan, Aysenur, Acar, Banu, Aktay Ayaz, Nuray, and Sözeri, Betül
- Subjects
- *
VASCULITIS treatment , *RESEARCH , *COVID-19 , *CONVALESCENCE , *TREATMENT effectiveness , *COMPARATIVE studies , *SYMPTOMS , *DESCRIPTIVE statistics , *IMMUNOSUPPRESSIVE agents , *DISEASE remission , *EVALUATION , *CHILDREN ,THERAPEUTIC use of glucocorticoids - Abstract
Objective: COVID‐19–associated pediatric vasculitis, other than Kawasaki disease (KD)–like vasculitis in multisystem inflammatory syndrome in children (MIS‐C), is very rare. This study sought to analyze the characteristics, treatment, and outcomes in patients with COVID‐19–associated pediatric vasculitis (excluding KD‐like vasculitis in MIS‐C). Methods: The inclusion criteria were as follows: 1) age <18 years at vasculitis onset; 2) evidence of vasculitis; 3) evidence of SARS–CoV‐2 exposure; and 4) ≤3 months between SARS–CoV‐2 exposure and vasculitis onset. Patients with MIS‐C were excluded. The features of the subset of patients in our cohort who had COVID‐19–associated pediatric IgA vasculitis/Henoch Schönlein purpura (IgAV/HSP) were compared against a pre‐pandemic cohort of pediatric IgAV/HSP patients. Results: Forty‐one patients (median age 8.3 years; male to female ratio 1.3) were included from 14 centers and 6 countries. The most frequent vasculitis subtype was IgAV/HSP (n = 30). The median duration between SARS–CoV‐2 exposure and vasculitis onset was 13 days. Involvement of the skin (92.7%) and of the gastrointestinal system (61%) were the most common manifestations of vasculitis. Most patients (68.3%) received glucocorticoids, and 14.6% also received additional immunosuppressive drugs. Remission was achieved in all patients. All of the patients with IgAV/HSP in our cohort had skin manifestations, while 18 (60%) had gastrointestinal involvement and 13 (43.3%) had renal involvement. When we compared the features of this subset of 30 patients to those of a pre‐pandemic pediatric IgAV/HSP cohort (n = 159), the clinical characteristics of fever and renal involvement were more common in our COVID‐19–associated pediatric IgAV/HSP cohort (fever, 30% versus 5%, respectively [P < 0.001]; renal involvement, 43.3% versus 17.6%, respectively [P = 0.002]). Recovery without treatment and complete recovery were each less frequent among our COVID‐19‐associated pediatric IgAV/HSP patients compared to the pre‐pandemic pediatric IgAV/HSP cohort (recovery without treatment, 10% versus 39%, respectively [P = 0.002]; complete recovery, 86.7% versus 99.4%, respectively [P = 0.002]). Conclusion: This is the largest cohort of children with COVID‐19–associated vasculitis (excluding MIS‐C) studied to date. Our findings suggest that children with COVID‐19–associated IgAV/HSP experience a more severe disease course compared to pediatric IgAV/HSP patients before the pandemic. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
13. Subcutaneous nodules as a clinical biomarker of Farber disease
- Author
-
Mitchell, John, primary, Harmatz, Paul, additional, Selim, Laila, additional, Din, Iman Gamal El, additional, Mungan, Neslihan, additional, Bulut, Fatma, additional, Lampe, Christina, additional, Grant, Christina L., additional, Ferreira, Carlos R., additional, Puri, Ratna D., additional, Bijarnia-Mahay, Sunita, additional, Guelbert, Noberto, additional, Arslan, Nur, additional, Zaki, Maha S., additional, Kapoor, Seema, additional, Hahn, Andreas, additional, Magnusson, Bo, additional, Sundberg, Erik, additional, Ozen, Seza, additional, Batu, Ezgi D., additional, Di Rocco, Maja, additional, Gokcay, Gulden, additional, Crosby, Kathleen, additional, and Solyom, Alexander, additional
- Published
- 2022
- Full Text
- View/download PDF
14. WITHDRAWN: Hematological involvement in pediatric systemic lupus erythematosus: A multi-center study
- Author
-
K Akca, Ümmüşen, primary, Batu, Ezgi D, additional, Kısaarslan, Ayşenur P, additional, Poyrazoğlu, Hakan, additional, Ayaz, Nuray A, additional, Sözeri, Betül, additional, Sağ, Erdal, additional, Atalay, Erdal, additional, Demir, Selcan, additional, Karadağ, Şerife G, additional, Demir, Ferhat, additional, Bilginer, Yelda, additional, Gümrük, Fatma, additional, and Özen, Seza, additional
- Published
- 2021
- Full Text
- View/download PDF
15. Galectin-3: a new biomarker for differentiating periodic fever, adenitis, pharyngitis, aphthous stomatitis (PFAPA) syndrome from familial Mediterranean fever?
- Author
-
Batu, Ezgi D., primary, Vezir, Emine, additional, Öğüş, Elmas, additional, Özbaş Demirel, Özlem, additional, Akpınar, Gizem, additional, Demir, Selcan, additional, and Özen, Seza, additional
- Published
- 2021
- Full Text
- View/download PDF
16. The Performances of the ACR 1997, SLICC 2012, and EULAR/ACR 2019 Classification Criteria in Pediatric Systemic Lupus Erythematosus
- Author
-
Batu, Ezgi D., primary, Akca, Ummusen Kaya, additional, Kısaarslan, Aysenur Pac, additional, Sağ, Erdal, additional, Demir, Ferhat, additional, Demir, Selcan, additional, Çiçek, Sümeyra Özdemir, additional, Poyrazoglu, Hakan, additional, Sozeri, Betül, additional, Bilginer, Yelda, additional, and Ozen, Seza, additional
- Published
- 2020
- Full Text
- View/download PDF
17. Farber disease (acid ceramidase deficiency) natural history study: Prospective and retrospective clinical data
- Author
-
Mitchell, John, primary, Harmatz, Paul, additional, Grant, Christina, additional, Ferreira, Carlos R., additional, Lampe, Christina, additional, Selim, Laila, additional, el Din, Iman Gamal, additional, Mungan, Neslihan, additional, Bulut, Fatma D., additional, Puri, Ratna D., additional, Bijarnia-Mahay, Sunita, additional, Guelbert, Norberto, additional, Zaki, Maha S., additional, DiRocco, Maja, additional, Kapoor, Seema, additional, Magnusson, Bo, additional, Sundberg, Erik, additional, Arslan, Nur, additional, Makay, Balahan, additional, Hahn, Andreas, additional, Ozen, Seza, additional, Batu, Ezgi D., additional, Gokcay, Gulden, additional, Torcoletti, Marta, additional, and Solyom, Alexander, additional
- Published
- 2020
- Full Text
- View/download PDF
18. Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis
- Author
-
Taşkıran, Ekim Z., Sönmez, Hafize E., Ayvaz, Deniz Ç., Koşukcu, Can, Batu, Ezgi D., Esenboğa, Saliha, Topaloğlu, Rezan, Orhan, Diclehan, Bilginer, Yelda, Alikaşifoğlu, Mehmet, Özen, Seza, and Tezcan, İlhan
- Published
- 2018
- Full Text
- View/download PDF
19. The Performances of the ACR 1997, SLICC 2012, and EULAR/ACR 2019 Classification Criteria in Pediatric Systemic Lupus Erythematosus.
- Author
-
Batu, Ezgi D., Akca, Ummusen Kaya, Kısaarslan, Aysenur Pac, Sağ, Erdal, Demir, Ferhat, Demir, Selcan, Çiçek, Sümeyra Özdemir, Poyrazoglu, Hakan, Sozeri, Betül, Bilginer, Yelda, Ozen, Seza, Kaya Akca, Ummusen, Pac Kısaarslan, Aysenur, and Özdemir Çiçek, Sümeyra
- Published
- 2021
- Full Text
- View/download PDF
20. A20 haploinsufficiency (HA20) : Clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease
- Author
-
Aeschlimann, Florence A., Batu, Ezgi D., Canna, Scott W., Go, Ellen, Gül, Ahmet, Hoffmann, Patrycja, Leavis, Helen L., Ozen, Seza, Schwartz, Daniella M., Stone, Deborah L., Van Royen-Kerkhof, Annet, Kastner, Daniel L., Aksentijevich, Ivona, Laxer, Ronald M., Aeschlimann, Florence A., Batu, Ezgi D., Canna, Scott W., Go, Ellen, Gül, Ahmet, Hoffmann, Patrycja, Leavis, Helen L., Ozen, Seza, Schwartz, Daniella M., Stone, Deborah L., Van Royen-Kerkhof, Annet, Kastner, Daniel L., Aksentijevich, Ivona, and Laxer, Ronald M.
- Published
- 2018
21. A20 haploinsufficiency (HA20): Clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease
- Author
-
MS Reumatologie/Immunologie/Infectie, Infection & Immunity, Immuno/reuma patientenzorg, Child Health, Aeschlimann, Florence A., Batu, Ezgi D., Canna, Scott W., Go, Ellen, Gül, Ahmet, Hoffmann, Patrycja, Leavis, Helen L., Ozen, Seza, Schwartz, Daniella M., Stone, Deborah L., Van Royen-Kerkhof, Annet, Kastner, Daniel L., Aksentijevich, Ivona, Laxer, Ronald M., MS Reumatologie/Immunologie/Infectie, Infection & Immunity, Immuno/reuma patientenzorg, Child Health, Aeschlimann, Florence A., Batu, Ezgi D., Canna, Scott W., Go, Ellen, Gül, Ahmet, Hoffmann, Patrycja, Leavis, Helen L., Ozen, Seza, Schwartz, Daniella M., Stone, Deborah L., Van Royen-Kerkhof, Annet, Kastner, Daniel L., Aksentijevich, Ivona, and Laxer, Ronald M.
- Published
- 2018
22. A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease
- Author
-
Aeschlimann, Florence A, primary, Batu, Ezgi D, additional, Canna, Scott W, additional, Go, Ellen, additional, Gül, Ahmet, additional, Hoffmann, Patrycja, additional, Leavis, Helen L, additional, Ozen, Seza, additional, Schwartz, Daniella M, additional, Stone, Deborah L, additional, van Royen-Kerkof, Annet, additional, Kastner, Daniel L, additional, Aksentijevich, Ivona, additional, and Laxer, Ronald M, additional
- Published
- 2018
- Full Text
- View/download PDF
23. Reply.
- Author
-
Batu, Ezgi D., Sener, Seher, and Özen, Seza
- Subjects
- *
RAYNAUD'S disease , *COVID-19 , *SCHOENLEIN-Henoch purpura , *RISK assessment , *FROSTBITE , *VASCULITIS , *EARLY medical intervention , *SYMPTOMS - Published
- 2023
- Full Text
- View/download PDF
24. Comparing polyarteritis nodosa in children and adults: a single center study
- Author
-
Erden, Abdulsamet, primary, Batu, Ezgi D., additional, Sönmez, Hafize E., additional, Sarı, Alper, additional, Armagan, Berkan, additional, Arıcı, Zehra S., additional, Bilgin, Emre, additional, Kalyoncu, Umut, additional, Karadağ, Ömer, additional, Bilginer, Yelda, additional, Ertenli, Ali Ihsan, additional, and Özen, Seza, additional
- Published
- 2017
- Full Text
- View/download PDF
25. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
- Author
-
Zhou, Qing, Wang, Hongying, Schwartz, Daniella M, Stoffels, Monique, Park, Yong Hwan, Zhang, Yuan, Yang, Dan, Demirkaya, Erkan, Takeuchi, Masaki, Tsai, Wanxia Li, Lyons, Jonathan J, Yu, Xiaomin, Ouyang, Claudia, Chen, Celeste, Chin, David T, Zaal, Kristien, Chandrasekharappa, Settara C, P Hanson, Eric, Yu, Zhen, Mullikin, James C, Hasni, Sarfaraz A, Wertz, Ingrid E, Ombrello, Amanda K, Stone, Deborah L, Hoffmann, Patrycja, Jones, Anne, Barham, Beverly K, Leavis, Helen L, van Royen, Annet, Sibley, Cailin, Batu, Ezgi D, Gül, Ahmet, Siegel, Richard M, Boehm, Manfred, Milner, Joshua D, Ozen, Seza, Gadina, Massimo, Chae, JaeJin, Laxer, Ronald M, Kastner, Daniel L, Aksentijevich, Ivona, Zhou, Qing, Wang, Hongying, Schwartz, Daniella M, Stoffels, Monique, Park, Yong Hwan, Zhang, Yuan, Yang, Dan, Demirkaya, Erkan, Takeuchi, Masaki, Tsai, Wanxia Li, Lyons, Jonathan J, Yu, Xiaomin, Ouyang, Claudia, Chen, Celeste, Chin, David T, Zaal, Kristien, Chandrasekharappa, Settara C, P Hanson, Eric, Yu, Zhen, Mullikin, James C, Hasni, Sarfaraz A, Wertz, Ingrid E, Ombrello, Amanda K, Stone, Deborah L, Hoffmann, Patrycja, Jones, Anne, Barham, Beverly K, Leavis, Helen L, van Royen, Annet, Sibley, Cailin, Batu, Ezgi D, Gül, Ahmet, Siegel, Richard M, Boehm, Manfred, Milner, Joshua D, Ozen, Seza, Gadina, Massimo, Chae, JaeJin, Laxer, Ronald M, Kastner, Daniel L, and Aksentijevich, Ivona
- Published
- 2015
26. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
- Author
-
MS Reumatologie/Immunologie/Infectie, Infection & Immunity, Child Health, Reumatologie patientenzorg, Zhou, Qing, Wang, Hongying, Schwartz, Daniella M, Stoffels, Monique, Park, Yong Hwan, Zhang, Yuan, Yang, Dan, Demirkaya, Erkan, Takeuchi, Masaki, Tsai, Wanxia Li, Lyons, Jonathan J, Yu, Xiaomin, Ouyang, Claudia, Chen, Celeste, Chin, David T, Zaal, Kristien, Chandrasekharappa, Settara C, P Hanson, Eric, Yu, Zhen, Mullikin, James C, Hasni, Sarfaraz A, Wertz, Ingrid E, Ombrello, Amanda K, Stone, Deborah L, Hoffmann, Patrycja, Jones, Anne, Barham, Beverly K, Leavis, Helen L, van Royen, Annet, Sibley, Cailin, Batu, Ezgi D, Gül, Ahmet, Siegel, Richard M, Boehm, Manfred, Milner, Joshua D, Ozen, Seza, Gadina, Massimo, Chae, JaeJin, Laxer, Ronald M, Kastner, Daniel L, Aksentijevich, Ivona, MS Reumatologie/Immunologie/Infectie, Infection & Immunity, Child Health, Reumatologie patientenzorg, Zhou, Qing, Wang, Hongying, Schwartz, Daniella M, Stoffels, Monique, Park, Yong Hwan, Zhang, Yuan, Yang, Dan, Demirkaya, Erkan, Takeuchi, Masaki, Tsai, Wanxia Li, Lyons, Jonathan J, Yu, Xiaomin, Ouyang, Claudia, Chen, Celeste, Chin, David T, Zaal, Kristien, Chandrasekharappa, Settara C, P Hanson, Eric, Yu, Zhen, Mullikin, James C, Hasni, Sarfaraz A, Wertz, Ingrid E, Ombrello, Amanda K, Stone, Deborah L, Hoffmann, Patrycja, Jones, Anne, Barham, Beverly K, Leavis, Helen L, van Royen, Annet, Sibley, Cailin, Batu, Ezgi D, Gül, Ahmet, Siegel, Richard M, Boehm, Manfred, Milner, Joshua D, Ozen, Seza, Gadina, Massimo, Chae, JaeJin, Laxer, Ronald M, Kastner, Daniel L, and Aksentijevich, Ivona
- Published
- 2015
27. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
- Author
-
Zhou, Qing, primary, Wang, Hongying, additional, Schwartz, Daniella M, additional, Stoffels, Monique, additional, Park, Yong Hwan, additional, Zhang, Yuan, additional, Yang, Dan, additional, Demirkaya, Erkan, additional, Takeuchi, Masaki, additional, Tsai, Wanxia Li, additional, Lyons, Jonathan J, additional, Yu, Xiaomin, additional, Ouyang, Claudia, additional, Chen, Celeste, additional, Chin, David T, additional, Zaal, Kristien, additional, Chandrasekharappa, Settara C, additional, P Hanson, Eric, additional, Yu, Zhen, additional, Mullikin, James C, additional, Hasni, Sarfaraz A, additional, Wertz, Ingrid E, additional, Ombrello, Amanda K, additional, Stone, Deborah L, additional, Hoffmann, Patrycja, additional, Jones, Anne, additional, Barham, Beverly K, additional, Leavis, Helen L, additional, van Royen-Kerkof, Annet, additional, Sibley, Cailin, additional, Batu, Ezgi D, additional, Gül, Ahmet, additional, Siegel, Richard M, additional, Boehm, Manfred, additional, Milner, Joshua D, additional, Ozen, Seza, additional, Gadina, Massimo, additional, Chae, JaeJin, additional, Laxer, Ronald M, additional, Kastner, Daniel L, additional, and Aksentijevich, Ivona, additional
- Published
- 2015
- Full Text
- View/download PDF
28. Periodic Fever, Aphthosis, Pharyngitis, and Adenitis Syndrome: Analysis of Patients From Two Geographic Areas.
- Author
-
Batu, Ezgi D., Kara Eroğlu, Fehime, Tsoukas, Paul, Hausmann, Jonathan S., Bilginer, Yelda, Kenna, Margaret A., Licameli, Greg R., Fuhlbrigge, Robert C., Özen, Seza, Dedeoğlu, Fatma, Kara Eroğlu, Fehime, Özen, Seza, and Dedeoğlu, Fatma
- Abstract
Objective: Periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) syndrome is a periodic fever syndrome of childhood with an unknown etiology. Our aim was to compare the features between PFAPA syndrome patients from Turkey and those from the US, and patients with and without MEFV variants, and to test the performance of the Eurofever criteria in excluding other autoinflammatory disorders.Methods: Seventy-one children with PFAPA syndrome, followed in Hacettepe University, in Ankara, Turkey, and 60 patients at Boston Children's Hospital in the US were enrolled. MEFV gene-variant analysis was performed in 56 patients with Sanger sequencing.Results: In patients from Turkey, symptom onset was at a younger age, fever attacks were of shorter duration, and pharyngitis was more frequent, whereas adenitis, headache, and nausea/vomiting were less frequent during attacks, when compared to patients from the US (P < 0.05). More patients from the Turkish cohort were classified in the familial Mediterranean fever (FMF) group according to the Eurofever criteria than patients from the US (66.2% versus 10%; P < 0.001). Two patients were diagnosed with FMF after MEFV analysis. Twenty-one patients (37.5%) had a single MEFV variant. No significant differences in phenotype were found between patients with and without MEFV variants.Conclusion: The differences between patients from the Turkish and US cohorts may be due to epigenetic or environmental factors. In addition, the Eurofever FMF criteria may perform better in certain areas, if the weight of ethnic origin parameter or cutoff values were modified. [ABSTRACT FROM AUTHOR]- Published
- 2016
- Full Text
- View/download PDF
29. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016
- Author
-
Lomakina, Olga, Alekseeva, Ekaterina, Valieva, Sania, Bzarova, Tatiana, Nikishina, Irina, Zholobova, Elena, Rodionovskaya, Svetlana, Kaleda, Maria, Nakagishi, Yasuo, Shimizu, Masaki, Mizuta, Mao, Yachie, Akihiro, Sugita, Yuko, Okamoto, Nami, Shabana, Kousuke, Murata, Takuji, Tamai, Hiroshi, Smith, Eve M., Yin, Peng, Jorgensen, Andrea L., Beresford, Michael W., Eleuteri, Antonio, Goilav, Beatrice, Lewandowski, Laura, Phuti, Angel, Wahezi, Dawn, Rubinstein, Tamar, Jones, Caroline, Newland, Paul, Marks, Stephen, Corkhill, Rachel, Ekdawy, Diana, Pilkington, Clarissa, Tullus, Kjell, Putterman, Chaim, Scott, Chris, Fisher, Antony C., Jorgensen, Andrea, Batu, Ezgi Deniz, Kosukcu, Can, Taskiran, Ekim, Akman, Sema, Ozturk, Kubra, Sozeri, Betul, Unsal, Erbil, Ekinci, Zelal, Bilginer, Yelda, Alikasifoglu, Mehmet, Ozen, Seza, Lythgoe, Hanna, Brunner, Hermine I., Gulati, Gaurav, Jones, Jordan T., Altaye, Mekibib, Eaton, Jamie, Difrancesco, Mark, Yeo, Joo Guan, Leong, Jingyao, Bathi, Loshinidevi D/O Thana, Arkachaisri, Thaschawee, Albani, Salvatore, Abdelrahman, Nagla, Beresford, Michael W, Leone, Valentina, Groot, Noortje, Shaikhani, D., Bultink, I. E. M., Bijl, M., Dolhain, R. J. E. M., Teng, Y. K. O., Zirkzee, E., de Leeuw, K., Fritsch-Stork, R., Kamphuis, S. S. M., Wright, Rachael D., Abdawani, Reem, Al Shaqshi, Laila, Al Zakwani, Ibrahim, Gormezano, Natali W., Kern, David, Pereira, Oriany L., Esteves, Gladys C. C., Sallum, Adriana M., Aikawa, Nadia E., Pereira, Rosa M., Silva, Clovis A., Bonfa, Eloisa, Beckmann, Jessica, Bartholomä, Nora, Venhoff, Nils, Henneke, Philipp, Salzer, Ulrich, Janda, Ales, Boteanu, Alina Lucica, Corral, Sandra Garrote, Giraldo, Alberto Sifuentes, Gámir, Mariluz Gámir, Mendoza, Antonio Zea, Adrovic, Amra, Dedeoglu, Reyhan, Sahin, Sezgin, Barut, Kenan, Koka, Aida, Oztunc, Funda, Kasapcopur, Ozgur, Rodriguez-Lozano, Ana Luisa, Rivas-Larrauri, Francisco, de la Puente, Silvestre García, Alves, Andressa G. F., Giacomin, Maria F. D. A., Farhat, Juliana, Braga, Alfésio L. F., Sallum, Adriana M. E., Campos, Lúcia M. D. A., Pereira, Luiz A. A., Lichtenfels, Ana J. D. F. C., Silva, Clóvis A., Farhat, Sylvia C. L., Acar, Banu, Ozcakar, Z. Birsin, Çakar, Nilgün, Uncu, Nermin, Gür, Gökçe, Özdel, Semanur, Yalçınkaya, Fatoş, Scott, Christiaan, Brice, Nicky, Nourse, Peter, Arango, Christine, Mosquera, Angela C., Malagon, Clara, Sakamoto, Ana P., Silva, Marco F. C. D., Lopes, Ananadreia S., Russo, Gleice C. S., Sallum, Adriana E. M., Kozu, Katia, Bonfá, Eloisa, Saad-Magalhães, Claudia, Pereira, Rosa M. R., Len, Claudio A., Terreri, Maria T., Suri, Deepti, Didel, Siyaram, Rawat, Amit, Singh, Surjit, Maritsi, Despoina, Onoufriou, MArgarita, Vougiouka, Olga, Tsolia, Maria, Bosak, Edi Paleka, Vidović, Mandica, Lamot, Mirta, Lamot, Lovro, Harjaček, Miroslav, Van Nieuwenhove, Erika, Liston, Adrian, Wouters, Carine, Tahghighi, Fatemeh, Ziaee, Vahid, Raeeskarami, Seid-Reza, Aguiar, Francisca, Pereira, Sandra, Rodrigues, Mariana, Moura, Cláudia, Rocha, Gustavo, Guimarães, Hercília, Brito, Iva, Fonseca, Rita, Horneff, Gerd, Klein, Ariane, Minden, Kirsten, Huppertz, Hans-Iko, Weller-Heinemann, Frank, Kuemmerle-Deschner, Jasmin, Haas, J-Peter, Hospach, Anton, Menendez-Castro, Ricardo, Huegle, Boris, Haas, Johannes-Peter, Swart, Joost, Giancane, Gabriella, Bovis, Francesca, Castagnola, Elio, Groll, Andreas, Lovell, Daniel J., Wolfs, Tom, Hofer, Michael, Panaviene, Violeta, Nielsen, Susan, Anton, Jordi, Uettwiller, Florence, Stanevicha, Valda, Trachana, Maria, Marafon, Denise Pires, Ailioaie, Constantin, Tsitsami, Elena, Kamphuis, Sylvia, Herlin, Troels, Doležalová, Pavla, Susic, Gordana, Flatø, Berit, Sztajnbok, Flavio, Pistorio, Angela, Martini, Alberto, Wulffraat, Nico, Ruperto, Nicolino, Gattorno, Marco, Brucato, Antonio, Finetti, Martina, Lazaros, George, Maestroni, Silvia, Carraro, Mara, Cumetti, Davide, Carobbio, Alessandra, Lorini, Monia, Rimini, Alessandro, Marcolongo, Renzo, Valenti, Anna, Erre, Gian Luca, Belli, Riccardo, Gaita, Fiorenzo, Sormani, Maria Pia, Imazio, Massimo, Abinun, Mario, Smith, Nicola, Rapley, Tim, McErlane, Flora, Kearsley-Fleet, Lianne, Hyrich, Kimme L., Foster, Helen, Tzaribachev, Nikolay, Zeft, Andrew, Cimaz, Rolando, Bohnsack, John, Griffin, Thomas, Carrasco, Ruy, Dare, Jason, Foeldvari, Ivan, Vehe, Richard, Simon, Teresa, Brunner, Hermine, Verazza, S., Davì, S., Consolaro, A., Insalaco, A., Gerloni, V., Cimaz, R., Zulian, F., Pastore, S., Corona, F., Conti, G., Barone, P., Cattalini, M., Cortis, E., Breda, L., Olivieri, A. N., Civino, A., Podda, R., Rigante, D., La Torre, F., D’Angelo, G., Jorini, M., Gallizzi, R., Maggio, M. C., Consolini, R., De Fanti, A., Alpigiani, M. G., Martini, A., Ravelli, A., Kısaarslan, Aysenur Pac, Gunduz, Zubeyde, Dusunsel, Ruhan, Dursun, Ismail, Poyrazoglu, Hakan, Kuchinskaya, Ekaterina, Abduragimova, Farida, Kostik, Mikhail, Sundberg, Erik, Omarsdottir, Soley, Klevenvall, Lena, Erlandsson-Harris, Helena, Basbozkurt, Gokalp, Erdemli, Ozge, Simsek, Dogan, Yazici, Fatih, Karsioglu, Yildirim, Tezcaner, Aysen, Keskin, Dilek, Ozkan, Huseyin, Acikel, Cengizhan, Demirkaya, Erkan, Orbán, Ilonka, Sevcic, Krisztina, Brodszky, Valentin, Kiss, Emese, Tekko, Ismaiel A., Rooney, Madeleine, McElnay, James, Taggart, Cliff, McCarthy, Helen, Donnelly, Ryan F., Slatter, Mary, Nademi, Zohreh, Friswell, Mark, Jandial, Sharmila, Flood, Terence, Hambleton, Sophie, Gennery, Andrew, Cant, Andrew, Duong, Phoi-Ngoc, Koné-Paut, Isabelle, Filocamo, Giovanni, Gamir, María Luz, Sanner, Helga, Carenini, Laura, Topdemir, Mesut, Karslioglu, Yildirim, Gok, Faysal, Tsurikova, Nadezhda, Ligostaeva, Elena, Ramchurn, Navdha R., Kostareva, O., Nikishina, I., Arsenyeva, S., Rodionovskaya, S., Kaleda, M., Alexeev, D., Dursun, Ismail Dursun, Murias, Sara, Barral, Estefania, Alcobendas, Rosa, Enriquez, Eugenia, Remesal, Agustin, de Inocencio, Jaime, Castro, Tania M., Lotufo, Simone A., Freye, Tatjana, Carlomagno, Raffaella, Zumbrunn, Thomas, Bonhoeffer, Jan, Schneider, Elvira Cannizzaro, Kaiser, Daniela, Hofer, Michaël, Hentgen, Véronique, Woerner, Andreas, Schwarz, Tobias, Klotsche, Jens, Niewerth, Martina, Ganser, Gerd, Jeyaratnam, Jerold, ter Haar, Nienke, Rigante, Donato, Dedeoglu, Fatma, Baris, Ezgi, Vastert, Sebastiaan, Frenkel, Joost, Hausmann, Jonathan S., Lomax, Kathleen G., Shapiro, Ari, Durrant, Karen L., Brogan, P. A., Hofer, M., Kuemmerle-Deschner, J. B., Lauwerys, B., Speziale, A., Leon, K., Wei, X., Laxer, R. M., Signa, Sara, Rusmini, Marta, Campione, Elena, Chiesa, Sabrina, Grossi, Alice, Omenetti, Alessia, Caorsi, Roberta, Viglizzo, Gianmaria, Ceccherini, Isabella, Federici, Silvia, Lachmann, Helen, Ruperto, Nicola, Vanoni, Federica, Gomes, Sonia Melo, Omoyinmi, Ebun, Arostegui, Juan I., Gonzalez-Roca, Eva, Eleftheriou, Despina, Klein, Nigel, Brogan, Paul, Volpi, Stefano, Santori, Elettra, Picco, Paolo, Pastorino, Claudia, Rice, Gillian, Tesser, Alessandra, Crow, Yanick, Candotti, Fabio, Sinoplu, Ada B., Yucel, Gozde, Pamuk, Gizem, Damian, Laura O., Lazea, Cecilia, Sparchez, Mihaela, Vele, Paulina, Muntean, Laura, Albu, Adriana, Rednic, Simona, Lazar, Calin, Mendonça, Leonardo O., Pontillo, Alessandra, Kalil, Jorge, Castro, Fabio M., Barros, Myrthes T., Pardeo, Manuela, Messia, Virginia, De Benedetti, Fabrizio, Insalaco, Antonella, Malighetti, Giorgia, Gorio, Chiara, Ricci, Francesca, Parissenti, Ilaria, Montesano, Paola, Bonafini, Barbara, Medeghini, Veronica, Cattalini, Marco, Giordano, Lucio, Zani, Giulia, Ferraro, Rosalba, Vairo, Donatella, Giliani, Silvia, Maggio, Maria Cristina, Luppino, Girolamo, Corsello, Giovanni, Fernandez, Maria Isabel Gonzalez, Montesinos, Berta Lopez, Vidal, Adriana Rodriguez, Gorospe, Juan I. Arostegui, Penades, Inmaculada Calvo, Rafiq, Nadia K., Wynne, Karen, Hussain, Khalid, Brogan, Paul A., Ang, Elizabeth, Ng, Nicholas, Kacar, Ayla, Gucenmez, Ozge Altug, Makay, Balahan, Unsal, Sevket Erbil, Sahin, Yasin, Kutlu, Tufan, Cullu-Cokugras, Fugen, Ayyildiz-Civan, Hasret, Erkan, Tulay, Al Zuhbi, Sana, Abdalla, Eiman, Russo, Ricardo A., Katsicas, María M., Minoia, Francesca, Ravelli, Angelo, Bhattad, Sagar, Gupta, Anju, Pandiarajan, Vignesh, Nada, Ritambhra, Tiewsoh, Kaara, Hawkins, Philip, Rowczenio, Dorota, Fingerhutova, Sarka, Franova, Jana, Prochazkova, Leona, Hlavackova, Eva, Dolezalova, Pavla, Evrengül, Havva, Yüksel, Selçuk, Doğan, Mustafa, Gürses, Dolunay, Evrengül, Harun, De Pauli, Silvia, Pastore, Serena, Bianco, Anna Monica, Severini, Giovanni Maria, Taddio, Andrea, Tommasini, Alberto, Salugina, Svetlana O., Fedorov, Evgeny, Kamenets, Elena, Zaharova, Ekaterina, Sleptsova, Tatiana, Alexeeva, Ekaterina, Savostyanov, Kirill, Pushkov, Alexander, Bzarova, Tatyana, Valieva, Saniya, Denisova, Rina, Isayeva, Kseniya, Chistyakova, Evgeniya, Soloshenko, Margarita, Kaschenko, Elena, Kaneko, Utako, Imai, Chihaya, Saitoh, Akihiko, Teixeira, Vitor A., Ramos, Filipa O., Costa, Manuela, Aviel, Yonatan Butbul, Fahoum, Shafe, Brik, Riva, Özçakar, Zeynep Birsin, Celikel, Banu Acar, Yalcinkaya, Fatos, Schiappapietra, Benedetta, Davi’, Sergio, Mongini, Federica, Giannone, Luisa, Bava, Cecilia, Alpigiani, Maria Giannina, Consolaro, Alessandro, Lazarevic, Dragana S., Vojinovic, Jelena, Basic, Jelena, Muratore, Valentina, Marzetti, Valentina, Quilis, Neus, Benavente, Belen Serrano, Alongi, Alessandra, Civino, Adele, Quartulli, Lorenzo, Januskeviciute, Giedre, van Dijkhuizen, Pieter, Groot, N., van Dijk, W., Kardolus, A., Suárez, Raul Gutiérrez, Nordal, Ellen B., Rypdal, Veronika G., Berntson, Lillemor, Ekelund, Maria, Aalto, Kristiina, Peltoniemi, Suvi, Zak, Marek, Glerup, Mia, Arnstad, Ellen D., Fasth, Anders, Rygg, Marite, Duarte, Ana Catarina, Sousa, Sandra, Teixeira, Lídia, Cordeiro, Ana, Santos, Mª José, Mourão, Ana Filipa, Santos, Maria José, Eusébio, Mónica, Lopes, Ana, Oliveira-Ramos, Filipa, Salgado, Manuel, Estanqueiro, Paula, Melo-Gomes, José, Martins, Fernando, Costa, José, Furtado, Carolina, Figueira, Ricardo, Branco, Jaime C., Fonseca, João E., Canhão, Helena, Mourão, Ana F., Santos, Maria Jose, Coda, Andrea, Cassidy, Samuel, West, Kerry, Hendry, Gordon, Grech, Debra, Jones, Julie, Hawke, Fiona, Grewal, Davinder Singh, Foley, Charlene, Killeen, Orla, MacDermott, Emma, Veale, Douglas, Fearon, Ursula, Konukbay, Dilek, Tarakci, Ela, Arman, Nilay, Şahin, Sezgin, Munro, Jane, Morgan, Esi, Riebschleger, Meredith, Horonjeff, Jennifer, Strand, Vibeke, Bingham, Clifton, Collante, Ma. Theresa M., Ganeva, Margarita, Stefanov, Stefan, Telcharova, Albena, Mihaylova, Dimitrina, Saraeva, Radoslava, Tzveova, Reni, Kaneva, Radka, Tsakova, Adelina, Temelkova, Katya, Picarelli, Maria Mercedes C., Danzmann, Luiz C., Barbé-Tuana, Florencia, Grun, Lucas K., Jones, Marcus H., Frković, Marijan, Ištuk, Karla, Birkić, Ika, Sršen, Saša, Jelušić, Marija, Easton, Alan, Quarmby, Rachael, Khubchandani, Raju, Chan, Mercedes, Srp, Radoslav, Kobrova, Katerina, Nemcova, Dana, Hoza, Jozef, Uher, Michal, Saifridova, Melania, Linkova, Lenka, Charuvanij, Sirirat, Leelayuwattanakul, Isree, Pacharapakornpong, Thita, Vallipakorn, Sakda A.-O., Lerkvaleekul, Butsabong, Vilaiyuk, Soamarat, Lanni, Stefano, Davì, Sergio, Cron, Randy Q., Passarelli, Chiara, Pisaneschi, Elisa, Novelli, Antonio, Bracaglia, Claudia, Caiello, Ivan, de Graaf, Kathy, Guilhot, Florence, Ferlin, Walter, Schulert, Grant, Grom, Alexi A., Nelson, Robert, de Min, Cristina, Holzinger, Dirk, Kessel, Christoph, Fall, Ndate, Grom, Alexei, de Jager, Wilco, Strippoli, Raffaele, Horne, Anna, Ehl, Stephan, Ammann, Sandra, Lehmberg, Kai, Beutel, Karin, Foell, Dirk, Horne, AnnaCarin, Pagani, Laura, Espada, Graciela, Gao, Yi-jin, Shenoi, Susan, Weitzman, Sheila, Prencipe, Giusi, Pascarella, Antonia, Ferlin, Walter G., Chatel, Laurence, Jacqmin, Philippe, De Graaf, Kathy, Ballabio, Maria, Johnson, Zoë, Lapeyre, Geneviève, de Benedetti, Fabrizio, Cristina, de Min, Wakiguchi, Hiroyuki, Hasegawa, Shunji, Hirano, Reiji, Okazaki, Fumiko, Nakamura, Tamaki, Kaneyasu, Hidenobu, Ohga, Shouichi, Yamazaki, Kazuko, Nozawa, Tomo, Kanetaka, Taichi, Ito, Shuichi, Yokota, Shumpei, McLellan, Kirsty, MacGregor, Ishbel, Martin, Neil, Davidson, Joyce, Hansmann, Sandra, Eikelberg, Andreas, Haug, Iris, Schuller, Sabrina, Benseler, Susanne M., Nazarova, Liliia S., Danilko, Kseniia V., Malievsky, Viktor A., Viktorova, Tatiana V., Mauro, Angela, Barnicoat, Angela, Hurst, Jane, Canham, Nathalie, Lacassagne, Sandrine, Wiener, Anastasia, Hügle, Boris, Denecke, Bernd, Costa-Filho, Ivan, Haas, Johannes Peter, Tenbrock, Klaus, Popp, David, Boltjes, Arjan, Rühle, Frank, Herresthal, Stefanie, van Wijk, Femke, Schultze, Joachim, Stoll, Monika, Klotz, Luisa, Vogl, Thomas, Roth, Johannes, Quesada-Masachs, Estefania, de la Sierra, Daniel Álvarez, Prat, Marina Garcia, Sánchez, Ana M. Marín, Borrell, Ricardo Pujol, Barril, Sara Marsal, Gallo, Mónica Martínez, Caballero, Consuelo Modesto, Chyzheuskaya, Iryna, Byelyaeva, Lyudmyla M., Filonovich, Rostislav M., Khrustaleva, Helena K., Zajtseva, Larisa I., Yuraga, Tamara M., Giner, Thomas, Hackl, Lukas, Albrecht, Julia, Würzner, Reinhard, Brunner, Juergen, Minute, Marta, Parentin, Fulvio, Nocerino, Agostino, Nørgaard, Mette, Alberdi-Saugstrup, Mikel, Zak, Marek S., Nielsen, Susan M., Nordal, Ellen, Müller, Klaus G., Avramovič, Mojca Zajc, Dolžan, Vita, Toplak, Nataša, Avčin, Tadej, Ruperto, N., Lovell, D. J., Wallace, C., Toth, M., Foeldvari, I., Bohnsack, J., Milojevic, D., Rabinovich, C., Kingsbury, D., Marzan, K., Quartier, P., Minden, K., Chalom, E., Horneff, G., Kuester, R. M., Dare, J., Heinrich, M., Kupper, H., Kalabic, J., Brunner, H. I., Burgos-Vargas, Ruben, Constantin, Tamas, Dehoorne, Joke, Stanevica, Valda, Kobusinska, Katarzyna, Zuber, Zbigniew, Mouy, Richard, Rumba-Rozenfelde, Ingrida, Job-Deslandre, Chantal, Pederson, Ronald, Bukowski, Jack, Hinnershitz, Tina, Vlahos, Bonnie, Keskitalo, Paula, Kangas, Salla, Vähäsalo, Paula, Valencia, Raul A. Chavez, Martino, David, Ponsonby, Anne-Louise, Chiaroni-Clarke, Rachel, Meyer, Braydon, Allen, Roger C., Akikusa, Jonathan D., Craig, Jeffrey M., Saffrey, Richard, Ellis, Justine A., Wallace, Carol, Uziel, Yosef, Sterba, Gary, Schneider, Rayfel, Russo, Ricardo, Ramanan, Athimalaipet V., Schmid, Jana Pachlopnik, Nichols, Kim E, Miettunen, Paivi, Kitoh, Toshiyuki, Ilowite, Norman T., Henter, Jan-Inge, Grom, Alexei A, Behrens, Edward M., Avcin, Tadej, Aricò, Maurizio, Grevich, Sriharsha, Lee, Peggy, Ringold, Sarah, Leroux, Brian, Leahey, Hannah, Yuasa, Megan, Foster, Jessica, Sokolove, Jeremy, Lahey, Lauren, Robinson, William, Newson, Joshua, Stevens, Anne, Shoop, Stephanie J. W., Verstappen, Suzanne M. M., Thomson, Wendy, McDonagh, Janet E., Beukelman, Timothy, Kimura, Yuki, Natter, Marc, Ilowite, Norm, Mieszkalski, Kelly, Burrell, Grendel, Best, Brian, Bristow, Helen, Carr, Shannon, Dennos, Anne, Kaufmann, Rachel, Schanberg, Laura, Simonini, Gabriele, Lancini, Francesca, Gerbaux, Margaux, Lê, Phu-Quoc, Goffin, Laurence, Badot, Valérie, La, Céline, Caspers, Laure, Willermain, François, Ferster, Alina, Ceci, Maria, Licciardi, Francesco, Turco, Marco, Santarelli, Francesca, Montin, Davide, Toppino, Claudia, Alizzi, Clotilde, Papia, Bruno, Vergara, Beatrice, Corpora, Umberto, Messina, Luca, Tsinti, Maria, Dermentzoglou, Vasiliko, Tziavas, Panagiotis, Perica, Marija, Bukovac, Lana Tambić, Çakan, Mustafa, Ayaz, Nuray Aktay, Keskindemirci, Gonca, Lang, Michael, Laing, Catherine, Benseler, Susanne, Gerschman, Tommy, Luca, Nadia, Schmeling, Heinrike, Dropol, Anastasia, Taiani, Jaymi, Johnson, Nicole, Rusted, Brian, Nalbanti, Panagiota, Pratsidou, Polyxeni, Pardalos, Grigoris, Tzimouli, Vasiliki, Taparkou, Anna, Stavrakidou, Maria, Papachristou, Fotios, Kanakoudi-Tsakalidou, Florence, Bale, Peter, Robinson, Emily, Palman, Jason, Ralph, Elizabeth, Gilmour, Kimberly, Heard, Clare, Wedderburn, Lucy R., Barrense-Dias, Yara, Gregory, Antonarakis, Amira, Dhouib, Paolo, Scolozzi, Sylviane, Hanquinet, Michaël, Hofer, Panko, Nataliya, Shokry, Salah, Rakovska, Liudmila, Pino, Sally, Diaz-Maldonado, Adriana, Guarnizo, Pilar, Torreggiani, Sofia, Cressoni, Paolo, Garagiola, Umberto, Di Landro, Giancarla, Farronato, Giampietro, Corona, Fabrizia, Bell, Samantha, Bhatti, Parveen, Nelson, Lee, Mueller, Beth A., Simon, T. A., Baheti, A., Ray, N., Guo, Z., Hazra, Anasuya, Stock, Thomas, Wang, Ronnie, Mebus, Charles, Alvey, Christine, Lamba, Manisha, Krishnaswami, Sriram, Conte, Umberto, Wang, Min, Kingsbury, Daniel, Koskova, Elena, Smolewska, Elzbieta, Vehe, Richard K., Lovell, Daniel, Kubota, Tomohiro, Yasumura, Junko, Kizawa, Toshitaka, Yashiro, Masato, Yamatou, Tsuyoshi, Yamasaki, Yuichi, Takei, Syuji, Kawano, Yoshifumi, Nykvist, Ulrika Järpemo, Magnusson, Bo, Wicksell, Rikard, Palmblad, Karin, Olsson, Gunnar L., Modaressi, Mohammadreza, Moradinejad, Mohammad-Hassan, Seraya, Valentina, Vitebskaya, Alisa, Moshe, Veronica, Amarilyo, Gil, Harel, Liora, Hashkes, Phillip J, Mendelson, Amir, Rabinowicz, Noa, Reis, Yonit, Dāvidsone, Zane, Lazareva, Arina, Šantere, Ruta, Bērziņa, Dace, Staņēviča, Valda, Varnier, Giulia Camilla, Maillard, Susan, Ferrari, Cristina, Zaffarano, Silvia, Wienke, Judith, Enders, Felicitas Bellutti, van den Hoogen, Lucas L., Mertens, Jorre S., Radstake, Timothy R., Hotten, Henny G., Fritsch, Ruth, Wedderburn, Lucy, Nistala, Kiran, Prakken, Berent, van Royen-Kerkhof, Annet, Alhemairi, Mohammad, Muzaffer, Mohammed, Van Dijkhuizen, Pieter, Deakin, Claire T., Simou, Stefania, De Iorio, Maria, Wu, Qiong, Amin, Tania, Dossetter, Lee, Campanilho-Marques, Raquel, Deakin, Claire, Pilkington, Clarissa A., Rosina, Silvia, Soponkanaporn, Sirisucha, Arıcı, Zehra S., Tuğcu, Gökçen D., Batu, Ezgi D., Sönmez, Hafize E., Doğru-Ersöz, Deniz, Talim, Beril, Kiper, Nural, Özen, Seza, Solyom, Alexander, Batu, Ezgi, Mitchell, John, Kariminejad, Ariana, Hadipour, Fatemeh, Hadipour, Zahra, Torcoletti, Marta, Agostoni, Carlo, Di Rocco, Maja, Tanpaiboon, Pranoot, Superti-Furga, Andrea, Bonafé, Luisa, Arslan, Nur, Guelbert, Norberto, Ehlert, Karoline, Grigelioniene, Giedre, Puri, Ratna, Schuchman, Edward, Gomez, Pilar, Gonzalez, Tatiana, Yepez, Ricardo, Vargas, Camilo, Fernanda, Falcini, Lepri, Gemma, Ferrari, Alessandra, Matucci-Cerinic, Marco, Meini, Antonella, Moneta, Gian Marco, Marasco, Emiliano, Nicolai, Rebecca, Bracci-Laudiero, Luisa, Kopchak, Olga, Mushkin, Alexander, Maletin, Alexey, Mosquera, Catalina, Amorim, Rita A., Molina, Juliana, Moreira, Gustavo, Santos, Flávia H., Fraga, Melissa, Keppeke, Livia, Silva, Vanessa M., Hirotsu, Camila, Tufik, Sergio, Terreri, Maria Teresa, Braga, Vinícius L., Fonseca, Maria Beatriz, Schinzel, Vania, Terreri, Maria Teresa R., Jorge, Liliana, Guerra, Liana, Junior, Edson Amaro, Castiglione, Maria Cristina, Tricarico, Alessandra, Boulter, Emily, Schultz, Andre, Murray, Kevin, Falcini, Fernanda, Stagi, Stefano, Bellucci, Eleonora, Grein, Ingrid H. R., Pileggi, Gecilmara, Pinto, Natália B. F., de Oliveira, Aline L., Belyaeva, Lyudmila, Filonovich, Rostislav, Khrustaleva, Helena, Zajtseva, Larisa, Ilisson, Jaanika, Pruunsild, Chris, Gilliaux, Olivier, Corazza, Francis, Lelubre, Christophe, Morel, Zoilo, C, Claudia Saad-Magalhães, Lira, Luis, Ladino, Mabel, Eraso, Ruth, Arroyo, Ivonne, Silva, Clovis, and Rose, Carlos
- Published
- 2017
- Full Text
- View/download PDF
30. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
- Author
-
Zhou, Qing, Wang, Hongying, Schwartz, Daniella M, Stoffels, Monique, Park, Yong Hwan, Zhang, Yuan, Yang, Dan, Demirkaya, Erkan, Takeuchi, Masaki, Tsai, Wanxia Li, Lyons, Jonathan J, Yu, Xiaomin, Ouyang, Claudia, Chen, Celeste, Chin, David T, Zaal, Kristien, Chandrasekharappa, Settara C, P Hanson, Eric, Yu, Zhen, Mullikin, James C, Hasni, Sarfaraz A, Wertz, Ingrid E, Ombrello, Amanda K, Stone, Deborah L, Hoffmann, Patrycja, Jones, Anne, Barham, Beverly K, Leavis, Helen L, van Royen-Kerkof, Annet, Sibley, Cailin, Batu, Ezgi D, Gül, Ahmet, Siegel, Richard M, Boehm, Manfred, Milner, Joshua D, Ozen, Seza, Gadina, Massimo, Chae, JaeJin, Laxer, Ronald M, Kastner, Daniel L, and Aksentijevich, Ivona
- Abstract
Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity. Herein we describe a new disease caused by high-penetrance heterozygous germline mutations in TNFAIP3, which encodes the NF-κB regulatory protein A20, in six unrelated families with early-onset systemic inflammation. The disorder resembles Behçet's disease, which is typically considered a polygenic disorder with onset in early adulthood. A20 is a potent inhibitor of the NF-κB signaling pathway. Mutant, truncated A20 proteins are likely to act through haploinsufficiency because they do not exert a dominant-negative effect in overexpression experiments. Patient-derived cells show increased degradation of IκBα and nuclear translocation of the NF-κB p65 subunit together with increased expression of NF-κB–mediated proinflammatory cytokines. A20 restricts NF-κB signals via its deubiquitinase activity. In cells expressing mutant A20 protein, there is defective removal of Lys63-linked ubiquitin from TRAF6, NEMO and RIP1 after stimulation with tumor necrosis factor (TNF). NF-κB–dependent proinflammatory cytokines are potential therapeutic targets for the patients with this disease.
- Published
- 2016
- Full Text
- View/download PDF
31. Potential role of pyrin, the protein mutated in familial Mediterranean fever, during inflammatory cell migration.
- Author
-
Balci-Peynircioglu B, Akkaya-Ulum YZ, Avci E, Batu ED, Purali N, Ozen S, and Yilmaz E
- Subjects
- Actin Cytoskeleton metabolism, Actins metabolism, Adolescent, Case-Control Studies, Child, Child, Preschool, Familial Mediterranean Fever immunology, Familial Mediterranean Fever metabolism, Female, Genetic Predisposition to Disease, HL-60 Cells, Humans, Male, Neutrophils immunology, Phenotype, Signal Transduction, Chemotaxis, Leukocyte, Familial Mediterranean Fever genetics, Mutation, Neutrophils metabolism, Pyrin genetics, Pyrin metabolism
- Abstract
Familial Mediterranean fever (FMF), the most common of the systemic autoinflammatory disorders, is caused by mutations in the MEFV (Mediterranean Fever) gene, which encodes the protein pyrin. Neutrophils, one of the major components during inflammation, are the main cell type that expresses pyrin. In response to an inflammatory stimulus, neutrophils migration to their main active site. To date, several pyrin-interacting proteins have been demonstrated to co-localise with the cytoskeletal protein actin, which is important in the process of neutrophil migration and raises the question of whether pyrin plays a role in the actin cytoskeletal network during inflammatory cell migration. In this study, we examined the possible role of pyrin during inflammatory cell migration in neutrophils. We generated a cell migration assay with neutrophils and primary neutrophils from patients. We also knocked down pyrin expression using siRNA and then performed cell migration assay. We showed co-localisation of pyrin and F-actin at the leading edge during inflammatory cell migration. In pyrin knocked down cells, we identified a significant decrease in neutrophil migration. In addition, we demonstrated a dramatic increase in migration in the neutrophils of FMF patients compared with a healthy control group. These data together provide new insight into the cellular function of pyrin and demonstrate an important link between pyrin and polymerising actin in the process of inflammatory cell migration.
- Published
- 2018
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.