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.

COVID-19 disease in children and adolescents following allogeneic hematopoietic stem cell transplantation: A report from the Turkish pediatric bone marrow transplantation study group.

Background: Data on the risk factors and outcomes for pediatric patients with SARS-CoV-2 infection (COVID-19) following hematopoietic stem cell transplantation (HSCT) are limited.

Objectives: The study aimed to analyze the clinical signs, risk factors, and outcomes for ICU admission and mortality in a large pediatric cohort who underwent allogeneic HSCT prior to COVID-19 infection.

Method: In this nationwide study, we retrospectively reviewed the data of 184 pediatric HSCT recipients who had COVID-19 between March 2020 and August 2022.

Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.

Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA.

Methods: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study.

Alantolactone ameliorates graft versus host disease in mice.

The anti-inflammatory and immunosuppressive drugs which are used in the treatment of Graft-versus-Host Disease (GVHD) have limited effects in controlling the severity of the disease. In this study, we aimed to investigate the prophylactic effect of Alantolactone (ALT) in a murine model of experimental GVHD. The study included 4 BALB/c groups as hosts: Naïve (n = 7), Control GVHD (n = 16), ALT-GVHD (n = 16), and Syngeneic transplantation (n = 10).

A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.

Lymphocyte-specific protein tyrosine kinase (LCK) is an SRC-family kinase critical for initiation and propagation of T-cell antigen receptor (TCR) signaling through phosphorylation of TCR-associated CD3 chains and recruited downstream molecules. Until now, only one case of profound T-cell immune deficiency with complete LCK deficiency [1] caused by a biallelic missense mutation (c.1022T>C, p.

Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1.

In 15 Turkish LAD-1 patients and controls, we assessed the impact of pathogenic ITGB2 mutations on Th17/Treg differentiation and functions, and innate lymphoid cell (ILC) subsets. The percentage of peripheral blood Treg cells, in vitro-generated induced Tregs differentiated from naive CD4 T cells were decreased despite the elevated absolute counts of CD4 cells in LAD-1 patients. Serum IL-23 levels were elevated in LAD-1 patients.

Central nervous system thrombosis in pediatric acute lymphoblastic leukemia in Turkey: A multicenter study.

Background: In patients with acute lymphoblastic leukemia (ALL), the risk of thromboembolism increases due to hemostatic changes secondary to the primary disease and due to treatment-related factors. In this multicenter study, we aimed to research the frequency of central nervous system (CNS) thrombosis occurring during treatment, hereditary and acquired risk factors, clinical and laboratory features of patients with thrombosis, treatment approaches, and thrombosis-related mortality and morbidity rates in pediatric ALL patients.

Procedure: Pediatric patients who developed CNS thrombosis during ALL treatment from 2010 to 2021 were analyzed retrospectively in 25 different Pediatric Hematology Oncology centers in Türkiye.

Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment.

Insufficient dietary folate intake, hereditary malabsorption, or defects in folate transport may lead to combined immunodeficiency (CID). Although loss of function mutations in the major intestinal folate transporter PCFT/SLC46A1 was shown to be associated with CID, the evidence for pathogenic variants of RFC/SLC19A1 resulting in immunodeficiency was lacking. We report two cousins carrying a homozygous pathogenic variant c.

Antibody Response against Vaccine Antigens in Children after TCRαβ-Depleted Haploidentical Stem Cell Transplantation: Is It Similar to That in Recipients with Fully Matched Donors?

Recipients of hematopoietic stem cell transplantation (HSCT) with HLA-mismatched donors are more immune suppressed than those with fully matched donors. The immunologic response to vaccines also may differ in HLA-mismatched haploidentical HSCT recipients. In this study, we aimed to evaluate the antibody response to vaccines in pediatric TCRαβ-depleted haploidentical HSCT recipients.

Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pathogenic variant.

Aceruloplasminemia inherited autosomal recessively in the gene is a progressive disease with iron accumulation in various organs such as the brain, liver, pancreas, and retina. gene encodes ceruloplasmin protein, which has ferroxidase activity and is involved in copper and iron metabolism. Progressive neurotoxicity, retinopathy, and diabetes may develop in about 40-60 decades.

Analysis of cyber security knowledge gaps based on cyber security body of knowledge.

Due to the increasing number of cyber incidents and overwhelming skills shortage, it is required to evaluate the knowledge gap between cyber security education and industrial needs. As such, the objective of this study is to identify the knowledge gaps in cyber security graduates who join the cyber security workforce. We designed and performed an opinion survey by using the Cyber Security Knowledge Areas (KAs) specified in the Cyber Security Body of Knowledge (CyBOK) that comprises 19 KAs.

Evaluation of primary care physicians' approaches to hemophilia and bleeding disorders: a questionnaire survey.

Bleeding disorders are causes of great concern and panic for parents and primary care providers. Lack of knowledge and awareness on appropriate screening tests and factor product preparation contributed to potential diagnostic delays, increased complications, and economic costs. This study aimed to determine and compare the approach of primary care physicians (including general practitioners) and emergency physicians with a questionnaire including simulation-based cases on hemophilia.

Assessment of extracorporeal photopheresis related cell damage.

Aim: Extracorporeal photochemotherapy (ECP) is emphasized chiefly as it has a high safety profile. However, the genotoxic effects of ECP are not known. This experimental study aimed to assess the potential genotoxic impact of ECP treatment by the AKLIDES system, a new generation standardized and automated evaluation method.

Characterization of cord blood CD3 TCRVα7.2 CD161 T and innate lymphoid cells in the pregnancies with gestational diabetes, morbidly adherent placenta, and pregnancy hypertension diseases.

Problem: Although pregnant women with gestational diabetes (GD), morbidly adherent placenta (MAP), and pregnancy hypertension (pHT) diseases lead to intrauterine growth restriction (IUGR), little is known about their effect on mucosal-associated invariant T (MAIT) and innate lymphoid cells (ILC) in the umbilical cord. This study aimed to quantify and characterize MAIT cells and ILCs in the cord blood of pregnant women with GD, MAP, and pHT diseases.

Method Of Study: Cord blood mononuclear cells (CBMCs) were isolated by Ficoll-Paque gradient.

Castleman Disease: A Multicenter Case Series from Turkey.

Objective: Castleman disease (CD) is a rare disease also known as angiofollicular lymph node hyperplasia. The two main histological subtypes are the hyaline vascular and plasma cell variants. It is further classified as unicentric CD (UCD) or multicentric CD (MCD) according to the anatomical distribution of the disease and the number of lymph nodes involved.

Social exclusion and behavior problems in adolescents with cancer and healthy counterparts.

Purpose: This cross-sectional study was conducted to determine social exclusion, internalized and externalized behavioral problems in adolescents with cancer and to compare them with healthy counterparts.

Design And Methods: The sample consisted of adolescents age 10-19 years (N = 70) followed up in the hemato-oncology outpatient clinic of a tertiary hospital and healthy adolescents age 10-19 years (N = 92) who were studying in secondary and high schools. The data were collected with a questionnaire for adolescents with cancer and healthy adolescents, The Ostracism Experience Scale for Adolescents (OES-A), Youth Externalizing Behavior Screener (YEBS), and Youth Internalizing Problems Screener (YIPS).

Energy Load Forecasting Using a Dual-Stage Attention-Based Recurrent Neural Network.

Providing a stable, low-price, and safe supply of energy to end-users is a challenging task. The energy service providers are affected by several events such as weather, volatility, and special events. As such, the prediction of these events and having a time window for taking preventive measures are crucial for service providers.