Results 21 to 30 of about 18,607 (256)
The PID Principles of Care: Where Are We Now? A Global Status Report Based on the PID Life Index
Frontiers in Immunology, 2021 A global gold standard framework for primary immunodeficiency (PID) care, structured around six principles, was published in 2014. To measure the implementation status of these principles IPOPI developed the PID Life Index in 2020, an interactive tool ...
Julia Nordin +12 more
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Consanguinity and Primary Immunodeficiencies [PDF]
Human Heredity, 2014 Primary immunodeficiencies (PIDs) are a heterogeneous group of genetic disorders caused by defects in the immune system that predispose patients to infections, autoimmune diseases, lymphoproliferation and malignancies. Most PIDs are inherited in an autosomal recessive pattern; therefore, they are more common in areas with high rates of consanguineous ...
Waleed, Al-Herz +3 more
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PI3Kδ and primary immunodeficiencies [PDF]
Nature Reviews Immunology, 2016 Primary immunodeficiencies are inherited disorders of the immune system, often caused by the mutation of genes required for lymphocyte development and activation. Recently, several studies have identified gain-of-function mutations in the phosphoinositide 3-kinase (PI3K) genes PIK3CD (which encodes p110δ) and PIK3R1 (which encodes p85α) that cause a ...
Lucas, Carrie L +4 more
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A rare primary immunodeficiency [PDF]
BMJ Case Reports, 2014 A 9-year-old girl presented with failure to thrive, chronic mucopurulent nasal discharge, recurrent skin pustules and recurrent episodes of purulent ear discharge since 2 years of age. She had coarse facial features with extensive eczema, multiple pyoderma scars, florid dental caries, retained primary dentition, hypermobile joints and a woody ...
Poornima, Nagaraj +3 more
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Newborn Screening for SCID: Experience in Spain (Catalonia)
International Journal of Neonatal Screening, 2021 Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to universally include this testing.
Ana Argudo-Ramírez +14 more
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Frontiers in Pediatrics, 2023 Deficiency of adenosine deaminase 2 (DADA2), first reported in 2014, is a disease with great phenotypic variability, which has been increasingly reported. Therapeutic response depends on the phenotype.
Diana Simão Raimundo +8 more
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Frontiers in Immunology, 2022 Syndromic immunodeficiencies are a heterogeneous group of inborn errors of immunity that can affect the development of non-immune organs and systems. The genetic basis of these immunodeficiencies is highly diverse, ranging from monogenic defects to large
Clara Franco-Jarava +27 more
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Primary immunodeficiencies in adults [PDF]
Vnitřní lékařství, 2019 In contrast to general opinion, the issue of primary immunodeficiency is far from just a pediatric medicine; a large number of patients with primary immunodefciencies are not only treated, but also diagnosed in adulthood. The most important manifestation of these diseases are serious, unusual or ill-treatable infections.
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Arthritis in primary immunodeficiencies
Bolʹ, Sustavy, Pozvonočnik, 2017 The article deals with joint diseases in patients with primary immunodeficiencies. The analysis of the literature data based on Scopus, Science Index, Google Scholar, PubMed databases accentuated primary immunodeficiencies associated with the joint ...
O.R. Boyarchuk +3 more
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