Zobrazeno 1 - 10
of 1 191
pro vyhledávání: '"severe congenital neutropenia"'
Autor:
Susan Farmand, Susanne Eva Aydin, Katharina Wustrau, Svea Böhm, Francis Ayuk, Gabriele Escherich, Julia Skokowa, Ingo Müller, Kai Lehmberg
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
BackgroundHomozygous or compound heterozygous mutations in JAGN1 cause severe congenital neutropenia. JAGN1-mutant patients present with severe early-onset bacterial infections and most have been described as low-responders to recombinant granulocyte
Externí odkaz:
https://doaj.org/article/570edd02dd8c41a4876c19e4f4056a8f
Autor:
Risa Matsumura, Shinji Mochizuki, Yusuke Morishita, Hiroko Hayakawa, Shuhei Karakawa, Hiroshi Kawaguchi, Satoshi Okada, Nobuyuki Hyakuna, Masao Kobayashi
Publikováno v:
Hematology Reports, Vol 16, Iss 1, Pp 98-105 (2024)
Severe congenital neutropenia (SCN) is characterized by chronic neutropenia with recurrent infections from early infancy and a predisposition to myelodysplastic syndrome/acute myeloid leukemia (AML). Allogeneic hematopoietic stem cell transplantation
Externí odkaz:
https://doaj.org/article/cc4d307e65b14e40a5852c64eadf6211
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
IntroductionAccording to the PRISMA criteria, a systematic review has been conducted to investigate the clinical relevance between patients with severe congenital neutropenia (SCN) and cyclic congenital neutropenia (CyN) induced by ELANE mutations.Me
Externí odkaz:
https://doaj.org/article/f4a1fabd0c7b4580a87d566b77c381f2
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:
Joseph H. Oved, Nora M. Gibson, Kimberly Venella, Caitlin W. Elgarten, Lisa Wray, Julia T. Warren, Timothy S. Olson
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Severe congenital neutropenia (SCN) is caused by germline mutations, most commonly in ELANE, impacting neutrophil maturation and leading to high risk of life-threatening infections. Most patients with ELANE-mutant SCN can achieve safe neutrophil coun
Externí odkaz:
https://doaj.org/article/6513bb6fcbd54929b6b72109d32eeff5
Autor:
Paula Leal-Anaya, Tamara N. Kimball, Ana Lucia Yanez-Felix, Moisés Ó. Fiesco-Roa, Benilde García-de Teresa, Angélica Monsiváis, Rocío Juárez-Velázquez, Esther Lieberman, Camilo Villarroel, Emiy Yokoyama, Liliana Fernández-Hernández, Anet Rivera-Osorio, David Sosa, Maria Magdalena Ortiz Sandoval, Norma López-Santiago, Sara Frías, Victoria del Castillo, Alfredo Rodríguez
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Introduction: The inherited bone marrow failure syndromes (IBMFSs) are a group of rare disorders characterized by bone marrow failure (BMF), physical abnormalities, and an increased risk of neoplasia. The National Institute of Pediatrics (INP) is a m
Externí odkaz:
https://doaj.org/article/c847b296c71c481ba9d3a93f5e694b3a
Autor:
Negar Moradian, Samaneh Zoghi, Elham Rayzan, Simin Seyedpour, Raul Jimenez Heredia, Kaan Boztug, Nima Rezaei
Publikováno v:
Allergy, Asthma & Clinical Immunology, Vol 19, Iss 1, Pp 1-8 (2023)
Abstract Background Severe Congenital Neutropenia type 4 (SCN4), is a rare autosomal recessive condition, due to mutations in the G6PC3 gene. The phenotype comprises neutropenia of variable severity and accompanying anomalies. Case presentation We re
Externí odkaz:
https://doaj.org/article/7e4962c5348b4d47934e5e225d7ee5d8
Autor:
Mahsa Hojabri, Yeganeh Farsi, Mahnaz Jamee, Hassan Abolhassani, Hedieh Haji Khodaverdi Khani, Abdollah Karimi, Mehrnaz Mesdaghi, Zahra Chavoshzadeh, Samin Sharafian
Publikováno v:
BMC Pediatrics, Vol 23, Iss 1, Pp 1-7 (2023)
Abstract Jagunal homolog 1 (JAGN1) has been recognized as an essential protein in neutrophil function. The mutated JAGN1 is responsible for immunodeficiency related to innate and humoral defense mechanisms. This deficiency impairs neutrophil developm
Externí odkaz:
https://doaj.org/article/4657443782c44d6194d1852aacdd3447
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Autor:
Ewa Krasuska-Sławińska, Maja Klaudel-Dreszler, Marta Minota, Magdalena Pożyczka-Fedor, Dorota Olczak-Kowalczyk, Izabela Minko-Chojnowska
Publikováno v:
Central European Journal of Immunology, Vol 48, Iss 1, Pp 70-74 (2023)
Severe congenital neutropenia (SCN) comprises a heterogenous group of disorders characterized by a constantly low absolute neutrophil count (ANC) below 0.5 × 109/l in the peripheral blood and maturation arrest of the myelopoiesis in the bone marrow
Externí odkaz:
https://doaj.org/article/9c8a478a7d7a46c19c02e7f2110973d4