Zobrazeno 1 - 10
of 2 425
pro vyhledávání: '"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
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
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 14, Iss 1, Pp 28-33 (2024)
Objective: Severe congenital neutropenia is a rarely encountered heterogeneous group of disorders characterized by myeloid maturation arrest in the bone marrow. The present study aimed to discuss clinical and laboratory findings, genetic mutations, t
Externí odkaz:
https://doaj.org/article/7acb47450c624252a4044e76abd701e2
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
Akademický článek
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Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Warts, Hypogammaglobulinemia, Infections, Myelokathexis (WHIM) syndrome is a rare, combined immunodeficiency disease predominantly caused by gain-of-function variants in the CXCR4 gene that typically results in truncation of the carboxyl terminus of
Externí odkaz:
https://doaj.org/article/33a4399d5701453fb24be25e56262870
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:
Junjie Ning
Publikováno v:
Mediterranean Journal of Hematology and Infectious Diseases, Vol 16, Iss 1 (2024)
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Externí odkaz:
https://doaj.org/article/fc7a9e725c9a42bbabb72c90882f4876
Autor:
Nabil S. Dhayhi, Mohammed A. Mahnashi, Alanoud I. Mokhasha, Lana F. Ahmed, Ahmed E. Shamakhi, Adeeb A. Ageel, Mohammed A. Tohary, Abdulaziz H. Alhazmi
Publikováno v:
Clinical Case Reports, Vol 12, Iss 2, Pp n/a-n/a (2024)
Key Clinical Message Congenital neutropenia syndromes encompass a group of genetic disorders characterized by persistent neutropenia and recurrent infections inherited in an autosomal recessive, dominant, or X‐linked manner. These syndromes arise f
Externí odkaz:
https://doaj.org/article/fee34225d9fc4aba94745e6f01ddaad1
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