Results 21 to 30 of about 21,130 (289)
The italian network of primary immunodeficiencies.
Iranian journal of allergy, asthma, and immunology, 2004 Primary immunodeficiencies are rare diseases, characterized by an increased susceptibility to infections. Early diagnosis and appropriate treatment are critical for reducing morbidity and mortality. Given the rarity of these diseases, the awareness of these disorders by physicians is often insufficient, leading to delayed diagnosis and inappropriate ...
Plebani, A +8 more
openaire +4 more sources
Progress in Diagnosis and Treatment of Primary Immunodeficiencies. [PDF]
J Clin MedPrimary immunodeficiencies (PIDs), or elsealso called inborn errors of immunity, are a heterogenous group of genetic disorders characterized by immune system dysfunction [...
Grammatikos A.
europepmc +2 more sources
Frontiers in Immunology, 2023 The transition from pediatric to adult care is a critical milestone in managing children, especially in those with complex chronic conditions. It involves ensuring the patient and family adapt correctly to the new phase, maintaining continuity of ongoing
María Alejandra Mejía González +10 more
doaj +1 more source
Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene
Frontiers in Pediatrics, 2022 C3 is a crucial protein of the complement system. Congenital C3 deficiency is extremely rare and manifests through recurrent, severe infections and should always be considered as a differential diagnosis of recurrent pyogenic infections. We report a case
Pedro Simão Coelho +8 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2022 Background The “Primary Immunodeficiencies (PIDs) principles of care” were published in 2014 as the gold standard for care of patients with PIDs, setting a common goal for stakeholders to ensure that patients with PID have access to appropriate care and ...
Leire Solís +8 more
doaj +1 more source
Primary immunodeficiency [PDF]
Allergy, Asthma & Clinical Immunology, 2018 Primary immunodeficiency disorder (PID) refers to a large heterogeneous group of disorders that result from defects in immune system development and/or function. PIDs are broadly classified as disorders of adaptive immunity (i.e., T cell, B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders).
McCusker, Christine +2 more
openaire +4 more sources
Frontiers in Immunology, 2022 Autoimmune lymphoproliferative syndrome (ALPS) is a rare primary immune disorder characterized by impaired apoptotic homeostasis. The clinical characteristics include lymphoproliferation, autoimmunity (mainly cytopenia), and an increased risk of lymphoma.
Laura Batlle-Masó +34 more
doaj +1 more source
Primary immunodeficiency and the microbiome
Current Opinion in Pediatrics, 2021 Purpose of review The current understanding of the relationship of the microbiota to clinical manifestation in patients with primary immunodeficiency, specifically the inflammatory processes caused by or that result in microbial dysbiosis, and their potential therapeutic options in primary immunodeficiency diseases (PID), is ...
Maryam Ali, Al-Nesf +2 more
openaire +2 more sources
Mucosal Immunity in Primary Immunodeficiencies
, 2021 The epithelia covering the gastrointestinal, respiratory, urogenital, conjunctiva, and inner ear are integral parts of the immune system. Through mechanical and chemical means, they prevent invasion by pathogens.
Troilo, A. +7 more
core +1 more source
Gut Involvement in Cellular Immunodeficiencies
, 2021 Primary cellular immunodeficiencies may often initially present with manifestations affecting the gastrointestinal tract. Not only infections but also inflammatory, autoimmune, and in some cases malignant manifestations may suggest the presence of a ...
Troilo, A. +7 more
core +1 more source