Zobrazeno 1 - 10
of 823
pro vyhledávání: '"Cyclic neutropenia"'
Autor:
Patcharee Komvilaisak, Najwa Yudhasompop, Kittima Kanchanakamhaeng, Suradej Hongeng, Samart Pakakasama, Usanarat Anurathapan, Pongpak Pongphitcha, Duantida Songdej, Werasak Sasanakul, Nongnuch Sirachainan
Publikováno v:
BMC Pediatrics, Vol 23, Iss 1, Pp 1-7 (2023)
Abstract Background Congenital neutropenia is a rare disease. Recurrent infections since young age are the presentation. The most common mutation causing severe congenital neutropenia (SCN) and cyclic neutropenia (CyN) is the ELANE gene. The objectiv
Externí odkaz:
https://doaj.org/article/55db97815d6840198156412f03f6e48d
Autor:
C. Kapogiannis, T. Zaggogianni, N. Stergiou, K. Kakleas, A. Kapogiannis, H. Gakiopoulou, C. Kanaka-Gantenbein
Publikováno v:
BMC Nephrology, Vol 24, Iss 1, Pp 1-9 (2023)
Abstract Background IgA nephropathy (IgAN) is universally recognized as one of the most common primary glomerular diseases in all ages. Cyclic neutropenia (CN) is a rare haematologic disorder that is associated with mutations of the ELANE gene. The c
Externí odkaz:
https://doaj.org/article/2a160be4ba7c477b9f84efee1298bad2
Autor:
María Enriqueta Núñez-Núñez, Juan Carlos Lona-Reyes, Brenda López-Barragán, Rosa Margarita Cruz-Osorio, Bricia Melissa Gutiérrez-Zepeda, Antonio Quintero-Ramos, Denisse Stephania Becerra-Loaiza
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
The most common causes of congenital neutropenia are mutations in the ELANE (Elastase, Neutrophil Expressed) gene (19p13.3), mostly in exon 5 and the distal portion of exon 4, which result in different clinical phenotypes of neutropenia. Here, we rep
Externí odkaz:
https://doaj.org/article/bdc4f7a3a02146dfa61961722576c363
Autor:
Zhentao Lao, Jiarun Fu, Zhiying Wu, Lihong Zhu, Shiwen Wu, Yongheng Lin, Chaoming Hu, Dingyu Duan, Panpan Wang
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Cyclic neutropenia (CyN) is a rare, ELANE-related neutropenia. Oral manifestations are among the initial signs of CyN and an important reason that leads patients to seek professional help. This case report describes a 12-year-old girl with recurrent
Externí odkaz:
https://doaj.org/article/0c3763ab7af0442492d1cdb880d9e4ae
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Autosomal dominant mutations in the signal recognition particle (SRP) 54 gene were recently described in patients with severe congenital neutropenia (SCN). SRP54 deficiency cause a chronic and profound neutropenia with maturation arrest at the promye
Externí odkaz:
https://doaj.org/article/8d3704b595f241a7b56162c6eba992fa
Publikováno v:
Surgical Case Reports, Vol 7, Iss 1, Pp 1-4 (2021)
Abstract Background Cyclic neutropenia is a disease that causes a neutropenic decrease in peripheral blood in a cycle of about 21 days. It is a rare hereditary disorder with an estimated incidence of 0.5–1 cases per million population. The absolute
Externí odkaz:
https://doaj.org/article/9a1950a2a7014c4e9d73cbf3eb5aaf1e
ASSESSMENT OF CONGENITAL NEUTROPENIA IN CHILDREN: COMMON CLINICAL SCENERIES AND CLUES FOR MANAGEMENT
Autor:
Ilaria Lazzareschi, Elena Rossi, Antonietta Curatola, Giovanna Capozio, Luca Benacquista, Ludovica Iezzi, Donato Rigante
Publikováno v:
Mediterranean Journal of Hematology and Infectious Diseases, Vol 14, Iss 1 (2022)
A disparate group of rare hematological diseases characterized by impaired maturation of neutrophil granulocytes defines congenital neutropenias. Neutropenic patients are prone to recurrent infections beginning in the first months of life. Of interes
Externí odkaz:
https://doaj.org/article/c15558cc49a640c7a126143e3d2a0f23
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Severe congenital neutropenia (SCN) is a rare hematological condition with heterogenous genetic background. Neutrophil elastase (NE) encoded by ELANE gene is mutated in over half of the SCN cases. The role of NE defects in myelocytes maturation arres
Externí odkaz:
https://doaj.org/article/f64cb48e5909418da21340639b19c497
Publikováno v:
Zdorovʹe Rebenka, Vol 13, Iss 4, Pp 387-393 (2018)
Neutropenic syndrome is quite common in pediatric practice. Its nature is diverse, and every case of neutropenia needs thorough differential diagnosis to determine the patient’s management. Only a differentiated approach to patients with neutropeni
Externí odkaz:
https://doaj.org/article/6102a2b4414d41b498b660af1279df97
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