Results 11 to 20 of about 329,521 (263)

Update in Primary Immunodeficiencies.

Acta bio-medica : Atenei Parmensis, 2020
Primary immunodeficiencies (PIDs) are inherited disorders classically characterized by increased susceptibility to infections. Nevertheless, in the last two decades, genomic analysis (such as NGS) coupled with biochemical and cellular studies led to a more accurate definition for a growing number of novel genetic disorders associated with PIDs.
Leonardi, Lucia, Rivalta, Beatrice, Cancrini, Caterina, Chiappini, Elena, Cravidi, Claudio, Caffarelli, Carlo, Manti, Sara, Calvani, Mauro, Martelli, Alberto, Miraglia Del Giudice, Michele, Duse, Marzia, Marseglia, Gian Luigi, Cardinale, Fabio   +12 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, Chandra, Anita, Nejentsev, Sergey, Condliffe, Alison M, Okkenhaug, Klaus   +4 more
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Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

npj Genomic Medicine, 2021
In more than one-third of primary immunodeficiency (PID) patients, extensive genetic analysis including whole-exome sequencing (WES) fails to identify the genetic defect.
Daniele Merico, Yehonatan Pasternak, Mehdi Zarrei, Edward J. Higginbotham, Bhooma Thiruvahindrapuram, Ori Scott, Jessica Willett-Pachul, Eyal Grunebaum, Julia Upton, Adelle Atkinson, Vy H. D. Kim, Elbay Aliyev, Khalid Fakhro, Stephen W. Scherer, Chaim M. Roifman   +14 more
doaj   +1 more source

Evaluation of Humoral and Cellular Responses in SARS-CoV-2 mRNA Vaccinated Immunocompromised Patients

Frontiers in Immunology, 2022
BackgroundImmunocompromised patients are at increased risk of severe COVID-19 and impaired vaccine response. In this observational prospective study, we evaluated immunogenicity of the BNT162b2 mRNA vaccine in cohorts of primary or secondary ...
Matthijs Oyaert, Marie-Angélique De Scheerder, Sophie Van Herrewege, Guy Laureys, Sofie Van Assche, Melissa Cambron, Leslie Naesens, Leslie Naesens, Levi Hoste, Levi Hoste, Karlien Claes, Karlien Claes, Filomeen Haerynck, Filomeen Haerynck, Tessa Kerre, Steven Van Laecke, Wim Van Biesen, Peggy Jacques, Bruno Verhasselt, Elizaveta Padalko   +19 more
doaj   +1 more source

Molecular changes associated with increased TNF-α-induced apoptotis in naïve (TN) and central memory (TCM) CD8+ T cells in aged humans

Immunity & Ageing, 2018
Background Progressive T cell decline in aged humans is associated with a deficiency of naïve (TN) and central memory (TCM) T cells. We have previously reported increased Tumor necrosis factor-α (TNF-α)-induced apoptosis in TN and TCM T cells in aged ...
Sudhir Gupta, Houfen Su, Sudhanshu Agrawal, Sastry Gollapudi   +3 more
doaj   +1 more source

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, Hasan, Aldhekri, Mohamed-Ridha, Barbouche, Nima, Rezaei   +3 more
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Case Report: Association between cyclic neutropenia and SRP54 deficiency

Frontiers in Immunology, 2022
Autosomal dominant mutations in the signal recognition particle (SRP) 54 gene were recently described in patients with severe congenital neutropenia (SCN).
Melinda Erdős, Melinda Erdős, Oksana Boyarchuk, László Maródi, László Maródi   +4 more
doaj   +1 more source

Selective IgM Deficiency—An Underestimated Primary Immunodeficiency

Frontiers in Immunology, 2017
Although selective IgM deficiency (SIGMD) was described almost five decades ago, it was largely ignored as a primary immunodeficiency. SIGMD is defined as serum IgM levels below two SD of mean with normal serum IgG and IgA.
Sudhir Gupta, Ankmalika Gupta
doaj   +1 more source

Evaluation of Humoral and Cellular Immune Responses to the SARS-CoV-2 Vaccine in Patients With Common Variable Immunodeficiency Phenotype and Patient Receiving B-Cell Depletion Therapy

Frontiers in Immunology, 2022
IntroductionSARS-CoV-2 vaccines’ effectiveness is not yet clearly known in immunocompromised patients. This study aims to assess the humoral and cellular specific immune response to SARS-CoV-2 vaccines and the predictors of poor response in patients with
Arnau Antolí, Arnau Antolí, Arnau Antolí, Gemma Rocamora-Blanch, Gemma Rocamora-Blanch, Gemma Rocamora-Blanch, Mario Framil, Mario Framil, Mario Framil, Virgínia Mas-Bosch, Virgínia Mas-Bosch, Virgínia Mas-Bosch, Sergio Navarro, Sergio Navarro, Sergio Navarro, Carla Bermudez, Carla Bermudez, Sergio Martinez-Yelamos, Sergio Martinez-Yelamos, Sergio Martinez-Yelamos, Eva Dopico, Eva Dopico, Laura Calatayud, Laura Calatayud, Laura Calatayud, Nadia Garcia-Muñoz, Luis Humberto Hernández-Benítez, Antoni Riera-Mestre, Antoni Riera-Mestre, Antoni Riera-Mestre, Jordi Bas, Jordi Bas, Jordi Bas, Cristina Masuet-Aumatell, Cristina Masuet-Aumatell, Cristina Masuet-Aumatell, Raúl Rigo-Bonnin, Raúl Rigo-Bonnin, Francisco Morandeira, Francisco Morandeira, Francisco Morandeira, Xavier Solanich, Xavier Solanich, Xavier Solanich   +43 more
doaj   +1 more source

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, Shobhana, Sivathanu, Sowmya, Sampath, Nithiyanantham, Ramakrishnan   +3 more
openaire   +2 more sources