[HTML][HTML] When actin is not actin'like it should: a new category of distinct primary immunodeficiency disorders

EGG Sprenkeler, SDS Webbers… - Journal of innate …, 2021 - karger.com
An increasing number of primary immunodeficiencies (PIDs) have been identified over the
last decade, which are caused by deleterious mutations in genes encoding for proteins …

Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency

OM Delmonte, A Villa… - Blood, The Journal of the …, 2020 - ashpublications.org
Traditionally, primary immune deficiencies have been defined based on increased
susceptibility to recurrent and/or severe infections. However, immune dysregulation …

Computational recognition of lncRNA signature of tumor-infiltrating B lymphocytes with potential implications in prognosis and immunotherapy of bladder cancer

M Zhou, Z Zhang, S Bao, P Hou, C Yan… - Briefings in …, 2021 - academic.oup.com
Long noncoding RNAs (lncRNAs) have been associated with cancer immunity regulation
and the tumor microenvironment (TME). However, functions of lncRNAs of tumor-infiltrating …

Genetic susceptibility to EBV infection: insights from inborn errors of immunity

SG Tangye - Human genetics, 2020 - Springer
Epstein–Barr virus (EBV) is a ubiquitous human pathogen, infecting> 90% of the adult
population. In the vast majority of healthy individuals, infection with EBV runs a relatively …

T-helper-2 cells and atopic disease: lessons learnt from inborn errors of immunity

CS Ma - Current Opinion in Immunology, 2023 - Elsevier
Highlights•Interleukin (IL)-6/STAT3/ERBIN pathway retrains human Th2 cells.•IFNγ, but not
IL-12, is a negative regulator of human Th2 cell development.•STAT6 is a key driver of Th2 …

Epstein–Barr virus in inborn immunodeficiency—more than infection

CNR Lino, S Ghosh - Cancers, 2021 - mdpi.com
Simple Summary Epstein–Barr Virus (EBV) is a common virus that is readily controlled by a
healthy immune system and rarely causes serious problems in infected people. However …

Flow cytometric-based analysis of defects in lymphocyte differentiation and function due to inborn errors of immunity

CS Ma, SG Tangye - Frontiers in immunology, 2019 - frontiersin.org
The advent of flow cytometry has revolutionized the way we approach our research and
answer specific scientific questions. The flow cytometer has also become a mainstream …

Predominant role of immunoglobulin G in the pathogenesis of splenomegaly in murine lupus

Q Zhang, L Xiang, MH Zaman, W Dong, G He… - Frontiers in …, 2020 - frontiersin.org
Systemic lupus erythematosus (SLE) is characterized by high levels of autoantibodies and
multiorgan tissue damage. The pathogenesis of splenomegaly in SLE remains unknown. In …

NR4A nuclear receptors in T and B lymphocytes: Gatekeepers of immune tolerance

R Hiwa, JF Brooks, JL Mueller, HV Nielsen… - Immunological …, 2022 - Wiley Online Library
Random VDJ recombination early in T and B cell development enables the adaptive
immune system to recognize a vast array of evolving pathogens via antigen receptors …

[HTML][HTML] Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients

BA Pillay, DT Avery, JM Smart, T Cole, S Choo… - JCI insight, 2019 - ncbi.nlm.nih.gov
Biallelic inactivating mutations in DOCK8 cause a combined immunodeficiency
characterized by severe pathogen infections, eczema, allergies, malignancy, and impaired …