Zobrazeno 1 - 10
of 710
pro vyhledávání: '"Hyperimmunoglobulin"'
Publikováno v:
Indian Pediatrics Case Reports, Vol 4, Iss 3, Pp 182-191 (2024)
Background: Hyperimmunoglobulin E (IgE) syndrome (HIES) is a rare primary immunodeficiency disease, with features of recurrent eczema-like rashes, skin and lung infections, and elevated serum IgE. Common genetic mutations involve STAT3 and DOCK8 in a
Externí odkaz:
https://doaj.org/article/bed3a237eee844e6a1168656a25cd0e8
Autor:
Ya. R. Khizhak, H. A. Sarkisyan, A. A. Komarova, V. A. Mironova, I. V. Zhuravleva, M. A. Sarkisyan, P. V. Shumilov
Publikováno v:
Детские инфекции (Москва), Vol 23, Iss 2, Pp 31-38 (2024)
Congenital cytomegalovirus infection is one of the most common TORCH infections, characterized by a wide range of clinical manifestations, predominantly with multiple organ lesions and often a disabling course. The result of antenatal infection with
Externí odkaz:
https://doaj.org/article/ea12da4916fe409db228de495a94feaf
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101105- (2024)
Hyperimmunoglobulin D syndrome (HIDS) is a rare but severe autoinflammatory disease with a poor prognosis if not diagnosed and treated early. Here, we report three cases of HIDS in children with typical clinical manifestations and a clear genetic dia
Externí odkaz:
https://doaj.org/article/437eec6fdb9b4163aad8b3c69f697e46
Autor:
Patrick Terheyden, Cord Sunderkötter, Franz-Dietmar Söhngen, Linda Golle, Sonja Schimo, Ralf Baron, Christian Maihöfner, Andreas Binder, Wolfram Pönisch
Publikováno v:
Dermatology and Therapy, Vol 13, Iss 10, Pp 2461-2471 (2023)
Abstract Introduction Immunocompromised patients are at increased risk for herpes zoster (HZ)-associated complications. Despite standard therapy with systemic antiviral drugs and analgesics, complications are frequently encountered, including general
Externí odkaz:
https://doaj.org/article/c67127361620416797dd3bf7c6d7e4c8
Publikováno v:
罕见病研究, Vol 1, Iss 3, Pp 268-277 (2022)
Objective To summarize the clinical and genetic features of children with autosomal dominant and recessive hyperimmunoglobulin E syndrome (HIES). Methods HIES patients were studied at the dermatology department of Beijing Children's Hospital, Capital
Externí odkaz:
https://doaj.org/article/52b16f4336ed4aaa9ac21317ac3b791b
Akademický článek
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Autor:
Peter Hur, Kathleen G. Lomax, Raluca Ionescu-Ittu, Ameur M. Manceur, Jipan Xie, Jordan Cammarota, Raju Gautam, Navneet Sanghera, Nina Kim, Alexei A. Grom
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-13 (2021)
Abstract Background Although canakinumab has demonstrated efficacy in multiple trials in patients with periodic fever syndromes (PFS), the evidence on initiation of canakinumab among PFS patients in real world setting is not well understood. We aimed
Externí odkaz:
https://doaj.org/article/895a29c829b840f387ab20d693d70cfe
Publikováno v:
Journal of the Scientific Society, Vol 49, Iss 2, Pp 201-203 (2022)
Primary immunodeficiency syndrome represents a heterogeneous group of inherited disorders caused by mutations in genes encoding functional proteins of the immune cells and characterized by an increased risk of infections, autoimmunity, autoinflammati
Externí odkaz:
https://doaj.org/article/72099ade05824a0790ec8bf670be9669
Autor:
Shiva Saghafi, Fariborz Zandieh, Mohammad Reza Fazlollahi, Cristina Glocker, Natalie Frede, Mary Buchta, Linlin Yang, Amir Hossein Mahmoudi, Massoud Houshmand, Zahra Pourpak, Bodo Grimbacher, Mostafa Moin
Publikováno v:
Iranian Journal of Allergy, Asthma and Immunology, Vol 21, Iss 3 (2022)
Early diagnosis of primary immunodeficiencies is crucial for timely treatment and preventing unwanted complications. Next-generation sequencing (NGS) and detailed clinical and immunological evaluation can help early detect such disorders. This study
Externí odkaz:
https://doaj.org/article/bfb98de19e6a411b9c6755e881f353e2
Autor:
Li Lin, Ying Wang, Bijun Sun, Luyao Liu, Wenjing Ying, Wenjie Wang, Qinhua Zhou, Jia Hou, Haili Yao, Liyuan Hu, Jinqiao Sun, Xiaochuan Wang
Publikováno v:
Allergy, Asthma & Clinical Immunology, Vol 16, Iss 1, Pp 1-10 (2020)
Abstract Background Loss-of-function (LOF) mutations in signal transducer and activator of transcription 3 (STAT3) is one of the causes of STAT3 hyperimmunoglobulin E (IgE) syndrome (STAT3-HIES), while gain-of-function (GOF) mutations in STAT3 lead t
Externí odkaz:
https://doaj.org/article/429a5a35266a4a0d9f1d031b6ed6cf76