Association of NFKB1‐94ins/delATTG promoter polymorphism with susceptibility to autoimmune and inflammatory diseases: a meta‐analysis
YF Zou, F Wang, XL Feng, JH Tao, JM Zhu… - Tissue …, 2011 - Wiley Online Library
The aim of our study is to assess the association of NFKB1‐94ins/delATTG promoter
polymorphism with autoimmune and inflammatory diseases using a meta‐analysis. We …
polymorphism with autoimmune and inflammatory diseases using a meta‐analysis. We …
IgH sequences in common variable immune deficiency reveal altered B cell development and selection
Common variable immune deficiency (CVID) is the most common symptomatic primary
immune deficiency, affecting~ 1 in 25,000 persons. These patients suffer from impaired …
immune deficiency, affecting~ 1 in 25,000 persons. These patients suffer from impaired …
Screening of functional and positional candidate genes in families with common variable immunodeficiency
U Salzer, C Neumann, J Thiel, C Woellner… - BMC immunology, 2008 - Springer
Background Common variable immunodeficiency (CVID) comprises a heterogeneous group
of primary antibody deficiencies with complex clinical and immunological phenotypes. The …
of primary antibody deficiencies with complex clinical and immunological phenotypes. The …
Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome
A Helfricht, PE Thijssen, MB Rother, RG Shah… - Journal of Experimental …, 2020 - rupress.org
The autosomal recessive immunodeficiency, centromeric instability, and facial anomalies
(ICF) syndrome is a genetically heterogeneous disorder. Despite the identification of the …
(ICF) syndrome is a genetically heterogeneous disorder. Despite the identification of the …
Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder
Background Genome-wide association studies have shown a pattern of rare copy number
variations and single nucleotide polymorphisms in patients with common variable …
variations and single nucleotide polymorphisms in patients with common variable …
EDA-ID and IP, Two Faces of the Same Coin: How the Same IKBKG/NEMO Mutation Affecting the NF-κB Pathway Can Cause Immunodeficiency and/or Inflammation
F Fusco, A Pescatore, MI Conte, P Mirabelli… - International reviews …, 2015 - Taylor & Francis
Anhidrotic Ectodermal Dysplasia with ImmunoDeficiency (EDA-ID, OMIM 300291) and
Incontinentia Pigmenti (IP, OMIM 308300) are two rare diseases, caused by mutations of the …
Incontinentia Pigmenti (IP, OMIM 308300) are two rare diseases, caused by mutations of the …
[HTML][HTML] Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders
PA van Schouwenburg, EE Davenport, AK Kienzler… - Clinical …, 2015 - Elsevier
Abstract Common Variable Immunodeficiency Disorders (CVIDs) are the most prevalent
cause of primary antibody failure. CVIDs are highly variable and a genetic causes have …
cause of primary antibody failure. CVIDs are highly variable and a genetic causes have …
NF-kB inhibitor blocks B cell development at two checkpoints
B Feng, S Cheng, WS Pear, HC Liou - Medical immunology, 2004 - Springer
Members of the NF-kB transcription factor family are differentially expressed in the B cell
lineage. Disruption of individual or two NF-kB subunits exhibits distinct defects in B …
lineage. Disruption of individual or two NF-kB subunits exhibits distinct defects in B …
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by
autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I …
autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I …
TACI mutations and disease susceptibility in patients with common variable immunodeficiency
AEJ Poodt, GJA Driessen, A De Klein… - Clinical & …, 2009 - academic.oup.com
The most prevalent primary immunodeficiency is common variable immunodeficiency
(CVID). Mutations have been described in four genes, ICOS, CD19, BAFF-R and …
(CVID). Mutations have been described in four genes, ICOS, CD19, BAFF-R and …