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Update in Primary Immunodeficiencies.
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 +12 more
openaire +4 more sources
PI3Kδ and primary immunodeficiencies [PDF]
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
openaire +3 more sources
Systematic Review of Primary Immunodeficiency Diseases in Malaysia: 1979–2020
Introduction: Primary immunodeficiency diseases (PIDs) are under-reported in Malaysia. The actual disease frequency of PID in this country is unknown due to the absence of a national patient registry for PID.Objective: This systematic review aimed to ...
Intan Juliana Abd Hamid +5 more
doaj +1 more source
BackgroundInfection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is clinically diverse, and children have a low risk of developing severe coronavirus disease 2019 (COVID-19). However, children with chronic diseases have a potentially
Levi Hoste +15 more
doaj +1 more source
A case of acanthosis nigricans in a HIV-infected patient [PDF]
Background: To date, very little information is available concerning the relationship between acanthosis nigricans (AN) and infection with human immunodeficiency virus type 1 (HIV-1).
De Vincentiis, Ludovica +5 more
core +1 more source
The comparative value of feline virology research: can findings from the feline lentiviral vaccine be translated to humans? [PDF]
Feline immunodeficiency virus (FIV) is a lentivirus of domestic cats that shares several similarities with its human counterpart, human immunodeficiency virus (HIV).
Beczkowski, Paweł M. +5 more
core +1 more source
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency
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 +14 more
doaj +1 more source
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 +19 more
doaj +1 more source
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 +3 more
doaj +1 more source
Expression of CXCR4 on feline peripheral blood mononuclear cells: effect of feline immunodeficiency virus infection. [PDF]
CXCR4 expression on feline peripheral blood mononuclear cells (PBMC) was analyzed. While monocytes and B lymphocytes expressed CXCR4, no CXCR4 was detected on T lymphocytes, in stark contrast to the expression pattern on T lymphocytes from humans.
Cannon, C.A., Hosie, M.J., Willett, B.J.
core +2 more sources

