Results 81 to 90 of about 161,849 (206)
Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter
JIMD Reports, Volume 66, Issue 1, January 2025.Abstract The tightly‐regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn2+ transporters: the 14‐member ZIP/SLC39 family, facilitating Zn2+ influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10‐member ZnT/SLC30 family, mobilizing ...
Vadim Dolgin +14 more
wiley +1 more source
Centralized rapid genetic diagnosis of combined immunodeficiency in Japan
Pediatrics International, Volume 67, Issue 1, January/December 2025.Abstract Purpose Severe combined immunodeficiency (SCID) is a pediatric emergency, and rapid genetic diagnosis is necessary for proper patient management, leading to successful stem cell transplantation and gene therapy. Ataxia telangiectasia (AT) requires early diagnosis to prevent infectious diseases and early detection of cancer.
Tamaki Kato +17 more
wiley +1 more source
Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency
Human Mutation, Volume 2025, Issue 1, 2025.Common variable immunodeficiency (CVID) is the most frequent symptomatic inborn error of immunity (IEI). CVID is genetically heterogeneous and occurs in sporadic or familial forms with different inheritance patterns. Monogenic mutations have been found in a low percentage of patients, and multifactorial or polygenic inheritance may be involved in ...
Tayebeh Ranjbarnejad +7 more
wiley +1 more source
X-Linked Agammaglobulinemia Presenting with Secondary Hemophagocytic Syndrome: A Case Report
Case Reports in Medicine, 2013 Introduction. Coincidence of X-linked agammaglobulinemia (XLA) and secondary hemophagocytic syndrome (sHS) is atypical. Both diseases are rare and pathogenesis of the latter one is not clearly known. Case Presentation. A 5-year-old boy was diagnosed both
Can Ozturk +3 more
doaj +1 more source
Immunological Reviews, Volume 328, Issue 1, Page 243-264, November 2024.Summary Enteric viruses are the main cause of acute gastroenteritis worldwide with a significant morbidity and mortality, especially among children and aged adults. Some enteric viruses also cause disseminated infections and severe neurological manifestations such as poliomyelitis.
Quentin Riller +4 more
wiley +1 more source
Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood
Pediatric Allergy and Immunology, Volume 35, Issue 10, October 2024.Abstract Background In this study, we aimed to report long‐term follow‐up of our pediatric and adult patients with DCLRE1C (DNA cross‐link repair 1C) hypomorphic mutation who were diagnosed leaky severe combined immunodeficiency (SCID). Methods Eighteen patients (13 children and five adults), aged between 6 and 29 years were included.
Esra Hazar +12 more
wiley +1 more source
Vedolizumab treatment in a patient with X-linked agammaglobulinemia, is it safe and efficient?
The Turkish Journal of Pediatrics, 2019 The loss of inflammatory regulation resulting from the absence of B-lymphocytes leads to a risk for autoimmune and autoinflammatory complications. There is no data on the use of Vedolizumab in patients with X-linked agammaglobulinemia (XLA) as well as ...
Şükrü Çekiç +4 more
doaj +1 more source
Arthritis and X-linked agammaglobulinemia.
Acta reumatologica portuguesa, 2008 Primary immunodeficiencies are defined as genetically determined functional and/or quantitative abnormalities in one or more of the components of the immune system. Immunodeficiency and arthritis can be related, although the mechanisms are not always clear.
Machado, P +5 more
openaire +2 more sources
Cracking the type 1 diabetes code: Genes, microbes, immunity, and the early life environment
Immunological Reviews, Volume 325, Issue 1, Page 23-45, August 2024.Summary Type 1 diabetes (T1D) results from a complex interplay of genetic predisposition, immunological dysregulation, and environmental triggers, that culminate in the destruction of insulin‐secreting pancreatic β cells. This review provides a comprehensive examination of the multiple factors underpinning T1D pathogenesis, to elucidate key mechanisms ...
Christopher Yau, Jayne S. Danska
wiley +1 more source
X-linked agammaglobulinemia: Experience in a Portuguese hospital
Anales de Pediatría (English Edition), 2015 X-Linked agammaglobulinemia (XLA) is characterized by an arrest of B cell differentiation, leading to recurrent bacterial infections. Lifelong immunoglobulin replacement therapy (IRT) is indicated to prevent infections and their complications.A retrospective study of patients with XLA followed in a level three hospital was performed; data was collected
Susana Fernandes +5 more
openaire +3 more sources