Primary immunodeficiency
C McCusker, J Upton, R Warrington - Allergy, Asthma & Clinical …, 2018 - Springer
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 …
that result from defects in immune system development and/or function. PIDs are broadly …
Secondary immunodeficiencies, including HIV infection
J Chinen, WT Shearer - Journal of Allergy and Clinical Immunology, 2010 - Elsevier
Extrinsic factors can adversely affect immune responses, producing states of secondary
immunodeficiency and consequent increased risk of infections. These immunodeficiencies …
immunodeficiency and consequent increased risk of infections. These immunodeficiencies …
CRISPR-based gene editing enables FOXP3 gene repair in IPEX patient cells
M Goodwin, E Lee, U Lakshmanan, S Shipp… - Science …, 2020 - science.org
The prototypical genetic autoimmune disease is immune dysregulation polyendocrinopathy
enteropathy X-linked (IPEX) syndrome, a severe pediatric disease with limited treatment …
enteropathy X-linked (IPEX) syndrome, a severe pediatric disease with limited treatment …
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels
Background Recurrent bacterial and fungal infections, eczema, and increased serum IgE
levels characterize patients with the hyper-IgE syndrome (HIES). Known genetic causes for …
levels characterize patients with the hyper-IgE syndrome (HIES). Known genetic causes for …
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency
B Afzali, J Grönholm, J Vandrovcova, C O'Brien… - Nature …, 2017 - nature.com
The transcriptional programs that guide lymphocyte differentiation depend on the precise
expression and timing of transcription factors (TFs). The TF BACH2 is essential for T and B …
expression and timing of transcription factors (TFs). The TF BACH2 is essential for T and B …
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies
IJ Nijman, JM van Montfrans, M Hoogstraat… - Journal of Allergy and …, 2014 - Elsevier
Background Primary immunodeficiency (PID) disorders are a heterogeneous group of
inherited disorders caused by a variety of monogenetic immune defects. Thus far, mutations …
inherited disorders caused by a variety of monogenetic immune defects. Thus far, mutations …
Primary immunodeficiency
C McCusker, R Warrington - Allergy, Asthma & Clinical Immunology, 2011 - Springer
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 …
disorders that result from defects in immune system development and/or function. PIDs are …
Educational paper: The expanding clinical and immunological spectrum of severe combined immunodeficiency
M van der Burg, AR Gennery - European journal of pediatrics, 2011 - Springer
Severe combined immunodeficiency (SCID) is one of the most severe forms of primary
immunodeficiency characterized by absence of functional T lymphocytes. It is a paediatric …
immunodeficiency characterized by absence of functional T lymphocytes. It is a paediatric …
T cell response against SARS-CoV-2 persists after one year in patients surviving severe COVID-19
F Venet, M Gossez, F Bidar, M Bodinier… - …, 2022 - thelancet.com
Background In critically ill COVID-19 patients, the initial response to SARS-CoV-2 infection
is characterized by major immune dysfunctions. The capacity of these severe patients to …
is characterized by major immune dysfunctions. The capacity of these severe patients to …