Primary immunodeficiency - Open Access .click

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Whole exome sequencing identifies compound heterozygous variants of gene in monozygotic twin patients with common variable immunodeficiency

SAGE Open Medicine, 2020
Objectives: A pair of female Malay monozygotic twins who presented with recurrent upper respiratory tract infections, hepatosplenomegaly, bronchiectasis and bicytopenia were recruited in this study.
Adiratna Mat Ripen +6 more
doaj +1 more source

Whole genome sequencing of a sporadic primary immunodeficiency cohort

Nature, 2018
Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early childhood,
James E. D. Thaventhiran +499 more
semanticscholar +1 more source

An in-host model of HIV incorporating latent infection and viral mutation [PDF]

Dynamical Systems, Differential Equations and Applications, AIMS Proceedings, 2015 pp. 913-922, 2015
We construct a seven-component model of the in-host dynamics of the Human Immunodeficiency Virus Type-1 (i.e, HIV) that accounts for latent infection and the propensity of viral mutation. A dynamical analysis is conducted and a theorem is presented which characterizes the long time behavior of the model.
arxiv +1 more source

Entry into the lytic cycle exposes EBV-infected cells to NK cell killing via upregulation of the MICB ligand for NKG2D and activation of the CD56bright and NKG2A+KIR+CD56dim subsets

Frontiers in Immunology
The Epstein–Barr virus (EBV) is usually acquired during infancy as an asymptomatic infection and persists throughout life in a latent state under the control of the host immune system.
Maria Giovanna Desimio +4 more
doaj +1 more source

Clinical and demographic pattern of chronic granulomatous disease (CGD) from a multicenter perspective: Malaysia’s experience over 26 years

Allergy, Asthma & Clinical Immunology, 2021
Background A retrospective review of clinical manifestations and demographic pattern of patients diagnosed as chronic granulomatous disease (CGD) from 7 hospitals in Malaysia. An analysis of the available database would establish clinical characteristics,
Lokman Mohd Noh +22 more
doaj +1 more source

Differential utilization of CD134 as a functional receptor by diverse strains of feline immunodeficiency virus [PDF]

, 2006
The feline homologue of CD134 (fCD134) is the primary binding receptor for feline immunodeficiency virus (FIV), targeting the virus preferentially to activated CD4+ helper T cells.
Hosie, M.J. +3 more
core +2 more sources

Autoimmunity as a continuum in primary immunodeficiency

Current opinion in pediatrics, 2019
Purpose of review Primary immunodeficiency disorders (PIDs) are no longer defined by infections alone. First clinical sign or sequelae of PID may include autoimmunity, such as cytopenias, arthritis or enteropathy.
J. Walter, Irmel A. Ayala, D. Milojevic
semanticscholar +1 more source

Mathematical analysis of an in-host model of viral dynamics with spatial heterogeneity [PDF]

Disc. Cont. Dyn. Sys. B 21: 1237-1257, 2016, 2015
We consider a spatially-heterogeneous generalization of a well-established model for the dynamics of the Human Immunodeficiency Virus-type 1 (HIV) within a susceptible host. The model consists of a nonlinear system of three coupled reaction-diffusion equations with parameters that may vary spatially.
arxiv +1 more source

Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience

Frontiers in Immunology, 2019
Ataxia telangiectasia (AT) is a genetic condition caused by mutations involving ATM (Ataxia Telangiectasia Mutated). This gene is responsible for the expression of a DNA double stranded break repair kinase, the ATM protein kinase.
Amarilla B. Mandola +10 more
doaj +1 more source

The Genetics of Primary Immunodeficiency in Children [PDF]

, 2021
Studies of children with recurrent infection demonstrate that primary immunodeficiency (PID) has a significant genetic component. In PID, over 300 genes of high penetrance inherited mostly in autosomal recessive manner have already been identified ...
Maimaris, Jesmeen S
core

genetics
immune system
antibody

immunodeficiency
gene
human immunodeficiency virus hiv

biochemistry
severe combined immunodeficiency
internal medicine