Clinical and serologic parallels to APS-I in patients with thymomas and autoantigen transcripts in their tumors
ASB Wolff, J Kärner, JF Owe, BEV Oftedal… - The Journal of …, 2014 - journals.aai.org
Patients with the autoimmune polyendocrine syndrome type I (APS-I), caused by mutations
in the autoimmune regulator (AIRE) gene, and myasthenia gravis (MG) with thymoma, show …
in the autoimmune regulator (AIRE) gene, and myasthenia gravis (MG) with thymoma, show …
[HTML][HTML] Analysis of five cases of monogenic lupus related to primary immunodeficiency diseases
G Su, J Lai, J Zhu, D Zhang, J Hou, Y Xu, Z Zhou - Inflammation Research, 2021 - Springer
Objective and design We studied five cases of PID-related monogenic lupus to explore the
characteristics. Material or subjects Among 42 cases of PID patients between 2017–2020, 5 …
characteristics. Material or subjects Among 42 cases of PID patients between 2017–2020, 5 …
Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis
JE Walter, MS Lo, K Kis-Toth, I Tirosh… - Journal of Allergy and …, 2015 - jacionline.org
Mutations of recombination activating gene (RAG) 1 and 2 in humans account for a broad
spectrum of phenotypes ranging from lack of T and B cells (leading to severe infections and …
spectrum of phenotypes ranging from lack of T and B cells (leading to severe infections and …
[HTML][HTML] Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anti-cytokine antibodies
Autoimmune cytopenia (AIC) can occur after viral infection as a co-morbid condition with
primary immunodeficiencies (PID). Patients with PID may develop severe complications with …
primary immunodeficiencies (PID). Patients with PID may develop severe complications with …
[HTML][HTML] Transient autoantibodies to danger signals
ER Shaw, P Matzinger - Frontiers in Immunology, 2023 - frontiersin.org
The Danger Model predicts that there are some molecules that no immune system can ever
be fully tolerant of, namely proteins that are only transiently expressed during times of stress …
be fully tolerant of, namely proteins that are only transiently expressed during times of stress …
The autoimmune conundrum in common variable immunodeficiency disorders
AAJM van de Ven, K Warnatz - Current opinion in allergy and …, 2015 - journals.lww.com
The increasing comprehension of immunological concepts promoting AID in CVID will allow
better and in some cases possibly even targeted treatment. A genetic diagnosis therefore …
better and in some cases possibly even targeted treatment. A genetic diagnosis therefore …
[HTML][HTML] DNA damage response in the adaptive arm of the immune system: Implications for autoimmunity
In complex environments, cells have developed molecular responses to confront threats
against the genome and achieve the maintenance of genomic stability assuring the transfer …
against the genome and achieve the maintenance of genomic stability assuring the transfer …
Unrelated hematopoietic cell transplantation in a patient with combined immunodeficiency with granulomatous disease and autoimmunity secondary to RAG …
The use of HLA-identical hematopoietic stem cell transplantation (HSCT) demonstrates
overall survival rates greater than 75% for TB-NK+ severe combined immunodeficiency …
overall survival rates greater than 75% for TB-NK+ severe combined immunodeficiency …
The human T‐cell receptor repertoire in health and disease and potential for omics integration
TS Watkins, JJ Miles - Immunology and cell biology, 2021 - Wiley Online Library
The adaptive immune system arose 600 million years ago in a cold‐blooded fish. Over
countless generations, our antecedents tuned the function of the T‐cell receptor (TCR). The …
countless generations, our antecedents tuned the function of the T‐cell receptor (TCR). The …
[HTML][HTML] Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection
Purpose Hypomorphic mutations in RAG1 and RAG2 are associated with significant clinical
heterogeneity and symptoms of immunodeficiency or autoimmunity may be late in …
heterogeneity and symptoms of immunodeficiency or autoimmunity may be late in …