Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.

Objective: Prolidase deficiency is a metabolic and immunological disorder that is inherited in an autosomal recessive manner. In prolidase deficiency, a broad spectrum of differences is observed in patients, ranging from asymptomatic to multisystem involvement. There is scarce information in the literature on the atypical features and immunophenotypes of this disease.

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

Early markers of baked milk and egg tolerance in young children with IgE-mediated immediate reactions.

Children with milk and egg allergies have outcomes in which, three-quarters are tolerant to baked forms of the allergenic food. Identifying predictors of tolerance to baked foods for IgE-mediated immediate-type reactions may guide the early introduction of baked allergens to diet and tolerance development. This study explores factors associated with early tolerance to baked foods.

An evaluation of pozelimab for the treatment of CHAPLE disease.

Introduction: CHAPLE disease is a severe, ultra-rare disorder caused by CD55 gene mutations, leading to uncontrolled complement hyperactivation, protein-losing enteropathy, and systemic thrombosis. Recent advances in targeted therapies, particularly the C5 inhibitor pozelimab (Veopoz), offer new treatment options by addressing complement dysregulation, marking a shift from symptomatic to precision therapy.

Areas Covered: This review explores the pathophysiology, clinical manifestations, and current treatments for CHAPLE disease.

LTβR deficiency causes lymph node aplasia and impaired B cell differentiation.

Secondary lymphoid organs (SLOs) provide the confined microenvironment required for stromal cells to interact with immune cells to initiate adaptive immune responses resulting in B cell differentiation. Here, we studied three patients from two families with functional hyposplenism, absence of tonsils, and complete lymph node aplasia, leading to recurrent bacterial and viral infections. We identified biallelic loss-of-function mutations in encoding the lymphotoxin beta receptor (LTβR), primarily expressed on stromal cells.

Diaphragmatic elevations following cardiac surgery.

Background: This study aims to investigate the incidence, prognosis, and etiology of diaphragmatic elevation following cardiac surgery.

Methods: Between February 2019 and December 2019, a total of 888 patients (631 males, 257 females; mean age: 58.4±12.

Microbial Isolates and Antimicrobial Resistance Patterns in Adults with Inborn Errors of Immunity: A Retrospective Longitudinal Analysis of Sputum Cultures.

Introduction: Individuals with inborn errors of immunity (IEI) are at increased risk of respiratory infection and frequently receive prolonged broad-spectrum antibiotics, leading to antibiotic resistance. The aim of this study was to identify respiratory pathogens and antibiotic resistance patterns in IEI patients.

Methods: We retrospectively studied 36 IEI patients with positive bacterial growth in sputum cultures between 2014 and 2023.

A Study on the Views and Thoughts of Dog Owners in Türkiye on Animal Welfare.

The aim of the present study was to determine the views and thoughts of dog owners in Türkiye on animal welfare. The research material consisted of data obtained from face-to-face surveys with 172 randomly selected dog owners. Half of the dog owners (54,7 %) were aware of the concept of animal welfare, and almost two-thirds (61,6 %) organized their dogs' living spaces according to animal welfare principles.

Repetitive Rolling of Triptycene-Based Molecules on Cu Surfaces.

The metal surface-supported rotation of artificial molecular structures is technologically important for developing molecular-level devices. The key factors leading to the practical applications of these molecular machines on metal surfaces are the atomic-scale control of the rotation and the counterbalance of the temperature-driven instability of the molecules. In this work, we present a means by which triptycene-based molecular wheels can roll repetitively on a metal surface.

Machine Learning ADME Models in Practice: Four Guidelines from a Successful Lead Optimization Case Study.

Optimization of the ADME properties and pharmacokinetic (PK) profile of compounds is one of the critical activities in any medicinal chemistry campaign to discover a future clinical candidate. Finding ways to expedite the process to address ADME/PK shortcomings and reduce the number of compounds to synthesize is highly valuable. This article provides practical guidelines and a case study on the use of ML ADME models to guide compound design in small molecule lead optimization.

Prognostic significance of invasive cribriform gland size and percentage in Gleason score 7 prostate adenocarcinoma.

Objectives: Cribriform glands are linked to poorer outcomes in prostate adenocarcinoma. We aimed to assess the prognostic role of the percentage of cribriform glands and the size of the largest invasive cribriform gland in Gleason score 7 prostate adenocarcinomas.

Methods: The presence, percentage, and size of the invasive cribriform glands were investigated and their association with prognostic factors were assessed in 177 Grade Groups 2 and 3 prostate adenocarcinomas.

DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.

Loss of function mutations in Diaphanous related formin 1 (DIAPH1) are associated with seizures, cortical blindness, and microcephaly syndrome (SCBMS) and are recently linked to combined immunodeficiency. However, the extent of defects in T and innate lymphoid cells (ILCs) remain unexplored. Herein, we characterized the primary T, natural killer (NK) and helper ILCs of six patients carrying two novel loss of function mutation in DIAPH1 and Jurkat cells after DIAPH1 knockdown.

MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort.

Background: Major histocompatibility complex class II deficiency, a combined immunodeficiency, results from loss of HLA class II expression on antigen-presenting cells. Currently, hematopoietic stem cell transplantation stands as the sole curative approach, although factors influencing patient outcomes remain insufficiently explored.

Objectives: To elucidate the clinical, immunologic, and genetic profiles associated with MHC-II deficiency and identify prognostic indicators that affect survival rates.

Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity.

Background: Artemis deficiency is an autosomal recessive disorder characterized by a combined immunodeficiency with increased cellular radiosensitivity. In this review, the clinical and genetic characteristics of 15 patients with DCLRE1C variants are presented.

Methods: The demographic, clinical, immunologic, and genetic characteristics of patients with confirmed DCLRE1C variants diagnosed between 2013 and 2023 were collected retrospectively.

Veno-Occlusive Disease: A Life-saving Novel Approach With Plasma Exchange, IVIG, and Steroid, Without Defibrotide.

Introduction: Hepatic veno-occlusive disease (VOD) is a critical medical emergency with a high mortality rate of up to 90% if not promptly treated. Defibrotide is the only approved medication for VOD treatment, exhibiting anti-inflammatory, antithrombotic, and anti-ischemic properties. This report presents a case of severe VOD in a patient undergoing acute lymphoblastic leukemia (ALL) treatment.