BCG vaccination in children with severe combined immunodeficiency in a tertiary center: evaluation of complications and risks.

Objective: To describe the complications and risks associated with BCG (Bacillus Calmette-Guérin) vaccination in patients diagnosed with SCID (Severe Combined Immunodeficiency).

Methods: This is a descriptive case series study. Medical charts were retrospectively reviewed for demographics, clinical manifestation, laboratory findings at diagnosis, outcome, and diagnosis of BCG vaccine-associated complications.

Construction and validation of an immune gene-based model for diagnosis and risk prediction of severe asthma.

Objective: Severe asthma (SA) is a serious disease with limited treatment options, which is closely linked to immune dysfunction. Therefore, immune-associated biomarkers may diagnose SA and offer therapeutic targets for SA.

Methods: The gene expression profiles of SA patients and matched controls were from the National Center for Biotechnology Information database.

Paradoxical Deterioration During Treatment of Tuberculous Meningitis Responded to Infliximab But Not to Steroids.

Unlabelled: Paradoxical deterioration in patients with tuberculous meningitis is a significant diagnostic and treatment challenge. We present the case of a 55-year-old previously healthy male, human immunodeficiency virus (HIV)-negative, presenting with headache, fever, agitation and slurred speech, who was ultimately diagnosed with tuberculous meningoencephalitis confirmed by cerebrospinal fluid polymerase chain reaction positive for complex. After initiation of a standard antitubercular therapy combined with glucocorticoids, the patient experienced an initial neurological improvement.

Cost-effectiveness analysis of immune checkpoint inhibitors combined with targeted therapy and chemotherapy for HPV/HIV-related cervical cancer.

Background: To systematically assess the cost-effectiveness of immune checkpoint inhibitors compared to the current standard therapy for human papillomavirus (HPV) and human immunodeficiency virus (HIV)-related cervical cancer.

Methods: A partitioned survival model spanning a 20-year period was created to evaluate the cost and effectiveness of atezolizumab combined with bevacizumab and chemotherapy (ABC), and pembrolizumab combined with bevacizumab and chemotherapy (PBC) vs bevacizumab combined with chemotherapy (BC), based on clinical data from the BEATcc and KEYNOTE-826 trials. Royston-Parmar models were used for survival estimation.

HCT in the widening spectrum of congenital immunodeficiencies.

Purpose Of Review: Hematopoietic stem cell transplantation (HSCT) and inborn errors of immunity (IEI) have been closely linked since transplantation was first used to cure severe combined immunodeficiency (SCID) in 1968. Since then, novel genes and diseases have been continually added to the ongoing list of IEI, and new data on indications and outcomes have emerged. We review recent data and progress in the field of hematopoietic cell transplantation (HCT) for IEI including new diseases and complications.

Artemis and its role in cancer.

Artemis is a key nuclease involved in the non-homologous end joining repair pathway upon DNA double-stranded breaks and during V(D)J recombination. It participates in various cellular processes and cooperates with various proteins involved in tumorigenesis. Its hereditary mutations lead to several pathological conditions, such as severe combined immunodeficiency with radiation sensitivity.

Newborn screening for SCID: the very first prospective pilot study from Türkiye.

Purpose: The measurement of T-cell receptor excision circle (TREC) is used for newborn screening (NBS) in dried blood spot (DBS) samples from Guthrie card for severe combined immunodeficiency (SCID). Here, we report the results of first newborn screening pilot program for SCID conducted in Türkiye.

Methods: The study was carried out together with Ankara University School of Medicine and The Ministry of Health, Public Health General Directorate, Pediatric and Adolescent Health Department.

Decoding mutational hotspots in human disease through the gene modules governing thymic regulatory T cells.

Computational strategies to extract meaningful biological information from multiomics data are in great demand for effective clinical use, particularly in complex immune-mediated disorders. Regulatory T cells (Tregs) are essential for immune homeostasis and self-tolerance, controlling inflammatory and autoimmune processes in many diseases with a multigenic basis. Here, we quantify the Transcription Factor (TF) differential occupancy landscape to uncover the Gene Regulatory Modules governing lineage-committed Tregs in the human thymus, and show that it can be used as a tool to prioritise variants in complex diseases.