Results 11 to 20 of about 30,146 (197)
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.
A Alkhatib +89 more
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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, 2011 Primary immunodeficiency disorder (PID) refers to a heterogeneous group of over 130 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, Warrington Richard
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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 Immunodeficiencies [PDF]
Mayo Clinic Proceedings, 1998 The primary immunodeficiencies are congenital disorders that affect the function of the immune system. The result is an inadequate immune response to microorganisms, self-antigens, and tumor cells, which leads to increased susceptibility to infections, autoimmunity, or malignant disease.
openaire +3 more sources
PRIMARY IMMUNE DEFICIENCIES – PRINCIPLES OF CARE
Frontiers in Immunology, 2014 Primary Immune Deficiencies (PIDs) are a growing group of over 230 different disorders caused by ineffective, absent or an increasing number of gain of function mutations in immune components (mainly cells and proteins).
Helen eChapel +7 more
doaj +1 more source
Subcutaneous IgG Replacement Therapy by Push in 32 Patients with Primary Immunodeficiency Diseases in Argentine [PDF]
, 2014 Introduction: Regular replacement with immunoglobulin infusions is the mainstay of treatment in the majority of primary immunodeficiencies. Several studies showed that Subcutaneous Immunoglobulin (SCIG) has similar efficacy to Intravenous Immunoglobulin (
Bezrodnik, Liliana +6 more
core +1 more source
Frontiers in Cellular and Infection Microbiology, 2021 The velocity of the COVID-19 pandemic spread and the variable severity of the disease course has forced scientists to search for potential predictors of the disease outcome.
Anna Bobcakova +10 more
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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
doaj +1 more source