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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, Upton, Julia, Warrington, Richard   +2 more
openaire   +4 more sources

The PID Life Index: an interactive tool to measure the status of the PID healthcare environment in any given country

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, Julia Nordin, Johan Prevot, Nizar Mahlaoui, Silvia Sánchez-Ramón, Adli Ali, Elodie Cassignol, John W. Seymour, Martine Pergent   +8 more
doaj   +1 more source

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications

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, Laura Batlle-Masó, Laura Batlle-Masó, Marina Garcia-Prat, Marina Garcia-Prat, Marina Garcia-Prat, Alba Parra-Martínez, Alba Parra-Martínez, Alba Parra-Martínez, Clara Franco-Jarava, Clara Franco-Jarava, Clara Franco-Jarava, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Pablo Velasco, María Antolín, Jacques G. Rivière, Jacques G. Rivière, Jacques G. Rivière, Andrea Martín-Nalda, Andrea Martín-Nalda, Andrea Martín-Nalda, Pere Soler-Palacín, Pere Soler-Palacín, Pere Soler-Palacín, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran   +34 more
doaj   +1 more source

Progress in Diagnosis and Treatment of Primary Immunodeficiencies. [PDF]

J Clin Med
Primary 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

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., Nadezhda Camacho-Ordonez, Della Bella, C., D'Elios, M. M., Camacho-Ordonez, N., Mario Milco D’Elios, Arianna Troilo, Chiara Della Bella   +7 more
core   +1 more source

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, Chandra, Anita, Nejentsev, Sergey, Condliffe, Alison M, Okkenhaug, Klaus   +4 more
openaire   +2 more sources

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., Frede, N., Della Bella, C., D'Elios, M. M., Natalie Frede, Mario Milco D’Elios, Arianna Troilo, Chiara Della Bella   +7 more
core   +1 more source

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, Helen eChapel, Johan ePrevot, Hubert Bobby Gaspar, Teresa eEspanol, Francisco A Bonilla, Leire eSolis, Josina eDrabwell   +7 more
doaj   +1 more source

Immune Profile in Patients With COVID-19: Lymphocytes Exhaustion Markers in Relationship to Clinical Outcome

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, Jela Petriskova, Robert Vysehradsky, Ivan Kocan, Lenka Kapustova, Martina Barnova, Zuzana Diamant, Zuzana Diamant, Milos Jesenak, Milos Jesenak, Milos Jesenak   +10 more
doaj   +1 more source

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, Leire Solís, Johan Prévot, Nizar Mahlaoui, Nizar Mahlaoui, Helen Chapel, Silvia Sánchez-Ramón, Silvia Sánchez-Ramón, Adli Ali, Adli Ali, John W. Seymour, John W. Seymour, Martine Pergent   +12 more
doaj   +1 more source