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.

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.

Chronic granulomatous disease: A single-center experience in Central Anatolia.

Background: Chronic granulomatous disease (CGD), one of the phagocytic cell defects, is the primary immunodeficiency caused by dysfunction of the NADPH oxidase complex in neutrophils.

Methods: The clinical, demographic and laboratory findings of 17 CGD patients who were followed-up between 2002 and 2021 were obtained retrospectively from the records of the patients.

Results: The number of male and female patients was 10/7.

The effects of thinning on carbon and nutrient fluxes input into forest floor via litterfall in black pine afforestation sites.

As a component of the biogeochemical cycle, litterfall contributes carbon and nutrients to forest ecosystems by transferring organic material to mineral soil. Litterfall therefore serves as an important indicator for soil fertility and ecosystem health. This study aimed to determine the impact of different levels of thinning (light, moderate, and heavy) on litterfall quantity (needles, branches, bark, cones, and miscellaneous parts) and on the amount of carbon and nutrients entering the ecosystem in black pine afforestation areas.

Unraveling the impact of primary immunodeficiency disorders on the microbiota of dental caries in children through 16S rRNA gene-based metagenomic analysis.

Background/aim: Dental caries is a frequently occurring and multifactorial chronic disease in children resulting from the interaction of cariogenic bacteria and host susceptibility. The aim of this study was to elucidate the impacts of primary immunodeficiency disorders (PIDs) on microbiota of dental caries in children by 16S rRNA gene-based metagenomic analysis.

Materials And Methods: Enrolled in this study were 15 children with primary PID with caries (PID group) and 15 healthy children with caries as a control (CG).

Changes in carbon stocks according to stand development stages in oriental beech forests in the Marmara Region of Türkiye.

This study was conducted to determine the changes in carbon stocks of oriental beech (Fagus orientalis) according to stand development stage in the Marmara Region of Türkiye. For this purpose, sample plots were taken from a total of 32 areas encompassing four stand development stages (young, middle age, mature and overmature stand). The diameter at breast height and height of all trees in the sample plots were measured, and only three dominant trees's ages per plot were determined.

Molecular investigations on T cell subsets in patients affected by Hypomorphic Mutation.

Objective: In this study, we explored the expression of transcription factors, cytokines, and co-stimulatory molecules within the helper T (Th) cell subsets (Th1, Th2, Th17 and Treg) of patients with hypomorphic DCLRE1C gene mutations.

Methods: The study comprised eight patients and five controls. Transcription factor and cytokine expressions of Th subsets and co-stimulatory molecules were investigated by qPCR and flow cytometric following T cell stimulation.

Association of NK cell subsets and cytotoxicity with FCGR3A gene polymorphism in functional NK cell deficiency.

Objective: The purpose of this study was to assess the association between clinical, laboratory, and functional analyses and polymorphism in the FCGR3A gene in individuals with functional NK cell deficiency.

Methods: A total of 15 functional NK cell deficiency patients and 10 age-matched healthy controls underwent NK cell subgroup, cytotoxicity, and FCGR3A whole-exome analysis with next-generation sequencing.

Results: Three different NK cell subsets (CD56brightCD16neg, CD56brightCD16int, and CD56dimCD16hi) were identified.

Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency.

Adenosine deaminase (ADA) deficiency leads to severe combined immunodeficiency (SCID). Previous clinical trials showed that autologous CD34 cell gene therapy (GT) following busulfan reduced-intensity conditioning is a promising therapeutic approach for ADA-SCID, but long-term data are warranted. Here we report an analysis on long-term safety and efficacy data of 43 patients with ADA-SCID who received retroviral ex vivo bone marrow-derived hematopoietic stem cell GT.

Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome.

Autosomal dominant hyper-IgE syndrome (AD-HIES) is an inborn error of immunity (IEI) caused by a dominant-negative mutation in the signal transducer and activator of transcription 3 (STAT 3). This disease is characterized by chronic eczematoid dermatitis, recurrent staphylococcal skin abscesses, pneumonia, pneumatoceles, and extremely high serum IgE levels. Loss-of-function STAT3 mutations may also result in distinct non-immunologic features such as dental, facial, skeletal, and vascular abnormalities, central nervous system malformations and an increased risk for bone fractures.

Nutrient pools and loss due to the removal of harvesting residue in cedar plantations (a case study from Türkiye).

Determining the nutrient stocks and revealing the extent to which these stocks will be affected by the interventions in forest ecosystems are crucial for sustainable forest management. This study aimed to determine the nutrient stock of cedar (Cedrus libani A. Rich.

Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency.

Background: LPS-responsive beige-like anchor (LRBA) deficiency (LRBA) and cytotoxic T-lymphocyte-associated antigen-4 (CTLA4) insufficiency (CTLA4) are mechanistically overlapped diseases presenting with recurrent infections and autoimmunity. The effectiveness of different treatment regimens remains unknown.

Objective: Our aim was to determine the comparative efficacy and long-term outcome of therapy with immunosuppressants, CTLA4-immunoglobulin (abatacept), and hematopoietic stem cell transplantation (HSCT) in a single-country multicenter cohort of 98 patients with a 5-year median follow-up.

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.

Retrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experience.

Severe combined immunodeficiency (SCID) is an inborn errors of immunity (IEI) disorder characterized by impairment in the development and function of lymphocytes and could be fatal if not treated with hematopoietic stem cell transplant in the first 2 years of life. There are various diagnostic criteria for SCID among different primary immunodeficiency societies. We retrospectively evaluated clinical and laboratory findings of 59 patients followed up with the diagnosis of SCID at our clinic over the past 20 years in order to develop an algorithm that would help diagnosis of SCID for the countries where a high ratio of consanguineous marriage is present because these countries have not launched TREC assay in their newborn screening programs.

Thinning effects on stand growth, carbon stocks, and soil properties in Brutia pine plantations.

Background: The purpose of this study was to investigate the effects of thinning on stand growth, carbon (C) sequestration, and soil properties in Brutia pine (Pinus brutia Ten.) plantations. The study was conducted at two experimental sites -the Antalya-Kaş and Isparta-Eğirdir plantation areas- in Turkey between 1985 and 2015.

Relationships between site index and ecological variables of trembling poplar forests (Populus tremula L.) in Türkiye.

This study was carried out to identify relationships between site index (dominant height at a reference age) and ecological variables of trembling poplar forests in Türkiye. Samples were collected from 78 plots differing in elevation, aspect, inclination, slope position, and site class. Physiographic factors of the sample plots were recorded, soil samples were collected from different predefined layers from soil pits, and bedrock samples were collected for identification.

The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity.

Human inborn errors of immunity (IEI) are a group of 485 distinct genetic disorders affecting children and adults. Signs and symptoms of IEI are heterogeneous, and accurate diagnosis can be challenging and depends on the available human expertise and laboratory resources. The Middle East and North Africa (MENA) region has an increased prevalence of IEI because of the high rate of consanguinity with a predominance of autosomal recessive disorders.