-
Article
Open AccessA Toolkit for Monitoring Immunoglobulin G Levels from Dried Blood Spots of Patients with Primary Immunodeficiencies
This study assessed whether measuring immunoglobulin G (IgG) from dried blood spots (DBSs) using nephelometry is a suitable remote monitoring method for patients with primary immunodeficiencies (PID).
-
Article
Open AccessDisease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We charac...
-
Article
Open AccessCirculating multimeric immune complexes contribute to immunopathology in COVID-19
A dysregulated immune response with high levels of SARS-CoV-2 specific IgG antibodies characterizes patients with severe or critical COVID-19. Although a robust IgG response is considered to be protective, exc...
-
Article
Open AccessComplement system component dysregulation is a distinctive feature of COVID-19 disease: a prospective and comparative analysis of patients admitted to the emergency department for suspected COVID-19 disease
The complement system (CS) plays a pivotal role in Coronavirus disease 2019 (COVID-19) pathophysiology. The objective of this study was to provide a comparative, prospective data analysis of CS components in a...
-
Article
Open AccessCurative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation
-
Article
Open AccessAssessing the differential impact of chronic CMV and treated HIV infection on CD8+ T-cell differentiation in a matched cohort study: is CMV the key?
Cytomegalovirus (CMV) infection is one of the main driving forces of T-cell senescence in the general population, whereas its differential impact in people living with HIV (PLWH) is less well characterized. Th...
-
Article
Open AccessBlood CD3-(CD56 or 16)+ natural killer cell distributions are heterogeneous in healthy adults and suppressed by azathioprine in patients with ANCA-associated vasculitides
Cytotoxic Natural Killer (NK) cells are increasingly recognized as a powerful tool to induce targeted cell death in cancer and autoimmune diseases. Still, basic blood NK cell parameters are poorly defined. The...
-
Chapter
TWEAK Deficiency
TWEAK (TNF-like weak inducer of apoptosis) deficiency has been first described by Wang et al. in 2013 in a single family. It is caused by heterozygous mutations in the TNFSF12/WEAK gene. TWEAK affected individ...
-
Chapter
TACI Deficiency
The tumor necrosis factor (TNF) superfamily member transmembrane activator and CAML interactor (TACI, encoded by TNFRSF13B) belongs to a group of molecules which regulate B cell homeostasis, differentiation, a...
-
Chapter
ICOS Deficiency
Inducible costimulator (ICOS) deficiency is an autosomal recessive inherited primary immunodeficiency and was the first monogenetic defect described in common variable immunodeficiency. ICOS-deficient patients...
-
Chapter
CVID
Common variable immunodeficiency (CVID) patients are individuals with antibody deficiency syndromes of various etiology and diverse clinical as well as immunological features. Clinical hallmarks are hypogammag...
-
Article
Open AccessThe MRZ reaction helps to distinguish rheumatologic disorders with central nervous involvement from multiple sclerosis
Some rheumatologic disorders may initially manifest with central nervous system (CNS) affection, mimicking the clinical, magnetic resonance imaging, and cerebrospinal fluid findings of multiple sclerosis (MS)....
-
Reference Work Entry In depth
Flotillin-2 (FLOT2)
-
Reference Work Entry In depth
Flotillin-1 (FLOT1)
-
Article
Open AccessDeciphering the BAR code of membrane modulators
The BAR domain is the eponymous domain of the “BAR-domain protein superfamily”, a large and diverse set of mostly multi-domain proteins that play eminent roles at the membrane cytoskeleton interface. BAR domai...
-
Article
Open AccessProceedings of the 23rd Paediatric Rheumatology European Society Congress: part two
-
Living Reference Work Entry In depth
Flotillin-2 (FLOT2)
-
Living Reference Work Entry In depth
Flotillin-1 (FLOT1)
-
Article
Symptomatic Males and Female Carriers in a Large Caucasian Kindred with XIAP Deficiency
X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in BIRC4 was originally described in male patients with X-linked lymphoproliferative syndrome type 2 (XLP2). Recent observations have highligh...
-
Article
Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells
Common variable immunodeficiency disorder (CVID) is the most common symptomatic primary immunodeficiency in adults, characterized by B-cell abnormalities and inadequate antibody response. CVID patients have co...
