Results 61 to 70 of about 11,926 (252)
Summary Wound infections are still an interdisciplinary and interprofessional challenge, because of numerous complications, particularly in people with chronic wounds. There are many different concepts and approaches in this field today. Therefore, WundDACH, the umbrella organization of the German‐speaking wound healing societies, wrote a position ...
Joachim Dissemond+12 more
wiley +1 more source
Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme
Abstract Background Severe combined immunodeficiency (SCID) is a fatal but treatable inborn error of immunity (IEI). Newborn screening (NBS) using T‐cell receptor excision circles (TREC) has been adopted globally, with very few countries incorporating kappa recombination excision circles (KREC) to also detect early B‐cell development disorders, such as
Markéta Bloomfield+23 more
wiley +1 more source
Introduction. Immunodeficiencies are disturbances in the immune system that can affect cell function, quantity, or both. They can be either primary, associated with genetic defects, or secondary, linked to external factors such as hemato-oncological ...
Ana Lucía Guzmán+12 more
doaj +1 more source
Molecular diagnostics of primary immunodeficiencies in Sverdlovsk region
The article presents the results of the work performed by the laboratory of molecular diagnostics at the Medical Center “Health Care of Mother and Child” for the diagnosis of primary immunodeficiency in Sverdlovsk region over 5 years.
S. S. Deryabina+4 more
doaj
The lung in primary immunodeficiencies: new concepts in infection and inflammation [PDF]
Immunoglobulin replacement therapy (IGRT) has contributed critically to the management of primary antibody deficiencies (PAD) and the decrease in pneumonia rate.
Baumann, Ulrich+4 more
core +4 more sources
A mutation was identified in 47% of the CVID‐enrolled patients and, in the majority, it was not related to CVID according to the IUIS classification, leading to a diagnostic metamorphosis of this pathological entity. The Mo‐CVID Score could help clinicians prioritize genetic analysis in pediatric CVID patients. The image was created with BioRender.com.
Federica Barbati+11 more
wiley +1 more source
Role of Bruton's tyrosine kinase in B cells and malignancies [PDF]
Bruton's tyrosine kinase (BTK) is a non-receptor kinase that plays a crucial role in oncogenic signaling that is critical for proliferation and survival of leukemic cells in many B cell malignancies. BTK was initially shown to be defective in the primary
Dammeijer, F. (Floris)+2 more
core +3 more sources
Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol+2 more
wiley +1 more source
Prolonged Excretion of Poliovirus among Individuals with Primary Immunodeficiency Disorder: An Analysis of the World Health Organization Registry. [PDF]
Individuals with primary immunodeficiency disorder may excrete poliovirus for extended periods and will constitute the only remaining reservoir of virus after eradication and withdrawal of oral poliovirus vaccine.
Dooling, Kathleen+8 more
core +1 more source
Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter
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