The spectrum of nuclear patterns with stained metaphase chromosome plate: morphology nuances, immunological associations, and clinical relevance.

The indirect immunofluorescence assay (IFA) on HEp-2 cells is the prevailing method used to screen for autoantibodies in the investigation of systemic autoimmune diseases (SAID). When positive, the titer provides a semi-quantitative assessment of the autoantibody serum concentration whereas the immunofluorescence pattern indicates the possible autoantibody specificities. The Brazilian Consensus on ANA Patterns (BCA) and the International Consensus on ANA Patterns (ICAP) provide recommendations for the harmonization on the pattern nomenclature and test reporting.

Performance of cryptogenic new onset refractory status epilepticus score in a Brazilian cohort after testing for antineuronal antibodies with tissue-based and cell-based assays.

Objective: This study was undertaken to describe a case series of Brazilian new onset refractory status epilepticus (NORSE) patients and evaluate the sensitivity and specificity of a clinical score to predict cryptogenic etiology (c-NORSE score) after autoimmune encephalitis (AE) testing.

Methods: Thirty-seven patients with NORSE from the Brazilian Autoimmune Encephalitis Network were investigated with brain magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) analysis, and complementary testing with tissue-based assays and cell-based assays for antineuronal and antiglial antibodies (abs) in serum/CSF. Final diagnoses were compiled after chart review.

Evaluation of pruritus biomarkers expression in chronic spontaneous urticaria.

Chronic urticaria (CU) is a skin disease characterized by recurrent episodes of urticaria and/or angioedema, persisting for more than six weeks. Chronic urticaria is classified as chronic spontaneous urticaria (CSU) and chronic inducible urticaria (CIndU). Histamine, released by mast cells and basophils, is the central mediator in the development of signs and symptoms, especially pruritus.

Chromosome aberrations and autoimmunity: Immune-mediated diseases associated with 18p deletion and other chromosomal aberrations.

Recent advances in genomic methodologies have significantly enhanced our understanding of immune-mediated rheumatic diseases. Specific structural variants (SVs), such as substantial DNA deletions or insertions, including chromosomal aberrations, have been implicated in diseases of immune dysregulation. Regrettably, SVs are frequently overlooked in next-generation sequencing (NGS) targeted-gene panels, whole exome sequencing (WES) and whole genome sequencing (WGS).

Clinical profiles and treatment outcomes of outpatients with interstitial lung disease and mechanic's hands: A retrospective and observational cohort.

Idiopathic inflammatory myopathies, especially antisynthetase syndrome, often appear outside of the muscles as interstitial lung disease (ILD). Another typical finding is the presence of mechanic's hands. The aim of the present study was to describe the clinical, functional, tomographic, and serological data of patients with ILD and mechanic's hands and their response to treatment and survival rates.

Anti-ribosomal P (anti-P) antibodies in patients with autoimmune hepatitis.

Objective: Anti-P-ribosomal antibody is a biomarker of systemic lupus erythematosus mainly associated with renal, nervous, and hepatic involvement. Systemic lupus erythematosus may present with features similar to autoimmune hepatitis. This study aimed to investigate the association of Anti-P-ribosomal antibodies in systemic lupus erythematosus compared to autoimmune hepatitis in the general Brazilian population.

Brazilian autoimmune encephalitis network (BrAIN): antibody profile and clinical characteristics from a multicenter study.

Background: The frequency of antibodies in autoimmune encephalitis (AIE) may vary in different populations, however, data from developing countries are lacking. To describe the clinical profile of AIE in Brazil, and to evaluate seasonality and predictors of AIE in adult and pediatric patients.

Methods: We evaluated patients with possible AIE from 17 centers of the Brazilian Autoimmune Encephalitis Network (BrAIN) between 2018 and 2022.

CD4 T lymphocyte subsets display heterogeneous susceptibility to apoptosis induced by serum from patients with systemic lupus erythematosus.

Background: Serum from systemic lupus erythematosus (SLE) patients has been shown to induce T-lymphocyte (TL) apoptosis. Given that different cells of the immune system display different sensitivity to apoptosis, we set to evaluate the in vitro effect of SLE serum on regulatory T-cells (Treg), Th17, Th1 and Th2 from SLE patients and healthy controls.

Methods: Peripheral blood mononuclear cells from SLE patients or normal controls were exposed to a pool of sera from SLE patients or normal controls.

"Untargeting" autoantibodies using genome editing, a proof-of-concept study.

Autoantibodies (AAbs) are useful biomarkers and many have direct pathogenic role. Current standard therapies for elimination of specific B/plasma-cell clones are not fully efficient. We apply CRISPR/Cas9 genome-editing to knockout V(D)J rearrangements that produce pathogenic AAbs in vitro.

Combined 13-valent pneumococcal conjugate and 23-valent pneumococcal polysaccharide vaccine regimens for adults with systemic lupus erythematosus: Does the sequence of pneumococcal vaccination affect immunogenicity responses? A single-center cohort study in Brazil.

Objective: A combination of 13-valent pneumococcal conjugate vaccine (PCV13) and 23-valent pneumococcal polysaccharide vaccine (PPSV23) is currently recommended for adults with systemic lupus erythematosus (SLE). However, data on the immunogenicity elicited by sequential pneumococcal vaccination in this patient population are scarce. In this study, we compared short-term antibody responses to both PCV13/PPSV23 (≥8-week interval) and PPSV23/PCV13 (≥12-month interval) vaccination strategies in pneumococcal vaccine-naive adults with SLE.

A rare association between factor H deficiency and lupus: Case report and experimental treatment with curcumin.

Factor H (FH) is one of the most important regulatory proteins of the alternative pathway of the complement system. FH deficiency is a rare condition that causes unregulated C3 consumption, leading to an increased susceptibility to infections and glomerulopathies. Our previous studies have demonstrated a FH deficient patient carrying a c.

VI Brazilian consensus guidelines for detection of anti-cell autoantibodies on HEp-2 cells.

Background: The VI Brazilian Consensus on Autoantibodies against HEp-2 cells for determination of autoantibodies against cellular constituents on HEp-2 cells was held on September, 2019, in Fortaleza (CE, Brazil). The guidelines in this edition were formulated by the group of Brazilian experts discussing the classification of complex patterns, the classification of the nuclear discrete dots (few and multiple), the identification of the discrete fine speckled pattern (AC-4a) and improvements on the ANA report.

Mainbody: Sixteen Brazilian researchers and experts from universities and clinical laboratories representing the various geographical regions of Brazil participated in the meeting.

Interkit Reproducibility of the Indirect Immunofluorescence Assay on HEp-2 Cells Depends on the Immunofluorescence Reactivity Intensity and Pattern.

Introduction: The indirect immunofluorescence assay on HEp-2 cells (HEp-2/IFA) is used worldwide for screening for autoantibodies to cellular antigens. Cell culture and fixation methods influence the cell distribution of autoantigens and the preservation of epitopes. Therefore, discrepancy of results obtained using different HEp-2/IFA kits (interkit nonreproducibility) is a common phenomenon in the clinical laboratory routine.

Characterization and use of the ECV304 autoantigenic citrullinome to understand anti-citrullinated protein/peptide autoantibodies in rheumatoid arthritis.

Background: Anti-citrullinated protein antibodies (ACPAs) are highly specific for rheumatoid arthritis (RA). In vivo, ACPAs target peptidyl-citrulline epitopes (cit-) in a variety of proteins (cit-prot-ACPAs) and derived peptides (cit-pept-ACPAs) generated via the peptidylarginine deiminase (PAD) isoenzymes. We aimed to identify a cell line with self-citrullination capacity, to describe its autoantigenic citrullinome, and to test it as a source of autocitrullinated proteins and peptides.

A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity.

Inborn errors of immunity (IEI), which were previously termed primary immunodeficiency diseases, represent a large and growing heterogeneous group of diseases that are mostly monogenic. In addition to increased susceptibility to infections, other clinical phenotypes have recently been associated with IEI, such as autoimmune disorders, severe allergies, autoinflammatory disorders, benign lymphoproliferative diseases, and malignant manifestations. The IUIS 2019 classification comprises 430 distinct defects that, although rare individually, represent a group affecting a significant number of patients, with an overall prevalence of 1:1,200-2,000 in the general population.

CTPS forms the cytoophidium in zebrafish.

Cytidine triphosphate synthase (CTPS) catalyzes the rate-limiting step of de novo CTP biosynthesis. An intracellular structure of CTPS, the cytoophidium, has been found in many organisms including prokaryotes and eukaryotes. Formation of the cytoophidium has been suggested to regulate the activity and stability of CTPS and may participate in certain physiological events.

IMPDH forms the cytoophidium in zebrafish.

Inosine monophosphate dehydrogenase (IMPDH) catalyzes the rate-limiting step in de novo guanine nucleotide biosynthesis. Its activity is negatively regulated by the binding of GTP. IMPDH can form a membraneless subcellular structure termed the cytoophidium in response to certain changes in the metabolic status of the cell.

Selective decrease in complement C2 hemolytic activity is a sensitive marker for cryoglobulinemia and active disease in hepatitis C patients.

Background: Some HCV patients present low/non-detected C2 hemolytic activity (C2h) without apparent consumption of other Complement components (selective low/non-detected C2h).

Aim: Characterization of the immunologic/clinical basis of this phenomenon.

Methods: C2h, HCV-viral load, cryoglobulinemia and Complement components were determined in 726 HCV patients, with sequential C2h determination in 189 patients.

Autoantibodies against phospholipase A2 receptor in Brazilian patients with glomerular diseases.

Background: Recently, great progress has been made in understanding the pathogenesis of membranous nephropathy (MN) with the discovery of autoantibodies (Abs) to M-type phospholipase A2 receptor (PLA2R) in serum and in immunocomplexes deposited in glomerulus in most adult patients with primary MN.

Objective: To evaluate the diagnostic performance of anti-PLA2R in Brazilian patients with MN, as well as to verify the possible association of anti-PLA2R serum levels with disease activity.

Methods: 117 patients with glomerular diseases confirmed by renal biopsy underwent routinely clinical and laboratory evaluation (serum creatinine and albumin, 24-h proteinuria, urinalysis, tests for etiological investigation) and determination of serum anti-PLA2R by ELISA.

HLA-B*51 and its main subtypes in Brazilian patients with Behçet's disease.

Objectives: This study aimed to evaluate the frequency of HLA-B*51 and its subtypes in Brazilian patients with Behçet's disease (BD) and healthy controls (HC) and to assess possible associations with disease manifestations.

Methods: A cross-sectional study with sequential BD patients and HC. HLAB*51 presence was determined by sequence-specific polymerase chain reaction (SSP-PCR) and HLA-B*51 subtypes by the Sanger sequencing method.

Rationale and design of the "Tocilizumab in patients with moderate to severe COVID-19: an open-label multicentre randomized controlled" trial (TOCIBRAS).

Introduction: Pro-inflammatory markers play a significant role in the disease severity of patients with COVID-19. Thus, anti-inflammatory therapies are attractive agents for potentially combating the uncontrolled inflammatory cascade in these patients. We designed a trial testing tocilizumab versus standard of care intending to improve the outcomes by inhibiting interleukin-6, an important inflammatory mediator in COVID-19.