Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.

Primary hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder associated with autosomal recessive variants in genes required for perforin-mediated lymphocyte cytotoxicity. A rapid diagnosis is crucial for successful treatment. Although defective cytotoxic T lymphocyte (CTL) function causes pathogenesis, quantification of natural killer (NK)-cell exocytosis triggered by K562 target cells currently represents a standard diagnostic procedure for primary HLH.

Diagnostic challenges of old diseases in the COVID-19 era: a report of two cases of carbamazepine-induced DRESS syndrome.

Introduction: A new MIS-C that develops after the acute stage of COVID-19 infection has recently been reported worldwide. Drug reaction with eosinophilia and systemic symptoms syndrome is a rare but potentially severe adverse drug-induced reaction most commonly associated with anticonvulsants. Due to variability in clinical presentation involving cutaneous and multiorgan systems, broad differential diagnosis, and lack of definitive diagnostic tests, diagnosis may be delayed.

Effect of early atopic sensitization in children aged 0-2 years on the development of asthma symptoms at 9-11 years of age.

Background: Personal genetic predisposition and early life environmental factors are important for the development of childhood asthma. We aimed to search whether egg, milk and mite sensitizations at 0-2 years old are risk factors for asthma symptoms at 9-11 years old.

Methods: A total of 210 wheezer children who had specific immunoglobulin (Ig) E in 2010-2012 were included in the study (followed by pediatric allergy).

Pulmonary function tests in the follow-up of children with COVID-19.

The SARS-CoV-2 virus has infected more than 235 million people since it was accepted as a pandemic in March 2020. Although a milder disease is seen in the pediatric age group, the extent of lung damage and its long-term effects are still unknown. In this study, persistent respiratory symptoms and pulmonary function tests were investigated in children with COVID-19.

Asthma and allergic diseases are not risk factors for hospitalization in children with coronavirus disease 2019.

Background: Coronavirus disease 2019 (COVID-19) emerged as a pandemic toward the end of 2019, causing large numbers of people to become infected and die.

Objective: To determine whether allergic diseases are a risk factor for hospitalization in COVID-19.

Methods: We conducted a study including 107 pediatric patients after COVID-19 recovery.

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.

The EuroFlow PID consortium developed a set of flow cytometry tests for evaluation of patients with suspicion of primary immunodeficiency (PID). In this technical report we evaluate the performance of the SCID-RTE tube that explores the presence of recent thymic emigrants (RTE) together with T-cell activation status and maturation stages and discuss its applicability in the context of the broader EuroFlow PID flow cytometry testing algorithm for diagnostic orientation of PID of the lymphoid system. We have analyzed peripheral blood cells of 26 patients diagnosed between birth and 2 years of age with a genetically defined primary immunodeficiency disorder: 15 severe combined immunodeficiency (SCID) patients had disease-causing mutations in ( = 4, two of them presented with Omenn syndrome), ( = 4, one of them with confirmed maternal engraftment), ( = 1), ( = 1), ( = 1), ( = 3, two of them with maternal engraftment) and ( = 1) and 11 other PID patients had diverse molecular defects [ ( = 1), ( = 2), ( = 1), ( = 1), del22q11.

Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.

Background: Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently observed genetic defect in the registries from North America and Western Europe. However, in eastern countries where consanguineous marriages are common, autosomal recessive forms might be more frequent.

Method: Two hundred and sixteen patients with severe congenital neutropenia from 28 different pediatric centers in Turkey were registered.

The Role of Irisin, Insulin and Leptin in Maternal and Fetal Interaction.

Objective: Insulin is an important hormone for intrauterine growth. Irisin is an effective myokine in the regulation of physiological insulin resistance in pregnancy. Leptin and insulin are associated with fetal growth and fetal adiposity.

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.

Chediak-Higashi syndrome (CHS) is caused by autosomal recessive mutations in , resulting in enlarged lysosomal compartments in multiple cell types. CHS patients display oculocutaneous albinism and may develop life-threatening hemophagocytic lymphohistiocytosis (HLH). While NK cell-mediated cytotoxicity has been reported to be uniformly defective, variable defects in T cell-mediated cytotoxicity has been observed.

Increased plasma soluble human leukocyte antigen-G in persistent wheezy infants.

Background: Human leukocyte antigen (HLA)-G is a non-classical major histocompatibility complex class I antigen characterized by limited polymorphism in its coding region, unique tissue expression pattern in physiologic conditions and immunomodulatory properties. Recently, the level of soluble (s)HLA-G was found to be higher in atopic asthma and allergic rhinitis, but this remains to be clarified in wheezy infants. The aim of the present study was therefore to investigate sHLA-G in wheezy infants.

Plasma glutamine and cystine are decreased and negatively correlated with endomysial antibody in children with celiac disease.

Background And Objectives: Glutamine is a nonessential amino acid which improves intestinal mucosal regeneration and absorption. Glutathione is a vital molecule for antioxidant reactions and is synthesized from cystine. The first aim of the study is to measure the plasma glutamine and cystine in children with celiac disease (CD) and compare them with controls.

DOCK8 deficiency in a boy who presented with a giant aortic aneurysm between aortic root and iliac bifurcation.

Dedicator of cytokinesis 8 protein (DOCK8) deficiency is an autosomal recessive, inherited form of hyper-immunoglobulin E (hyper-IgE) syndrome, characterized by persistent cutaneous viral infections, elevated IgE, eosinophilia, and allergic manifestations. The case of a 10-year-old boy who presented with giant aortic aneurysm between the aortic root and iliac bifurcation is described in the present report. Aortic aneurysm of this size has not yet been reported.

XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.

Repair of DNA double-strand breaks (DSBs) by the nonhomologous end-joining pathway (NHEJ) is important not only for repair of spontaneous breaks but also for breaks induced in developing lymphocytes during V(D)J (variable [V], diversity [D], and joining [J] genes) recombination of their antigen receptor loci to create a diverse repertoire. Mutations in the NHEJ factor XLF result in extreme sensitivity for ionizing radiation, microcephaly, and growth retardation comparable to mutations in LIG4 and XRCC4, which together form the NHEJ ligation complex. However, the effect on the immune system is variable (mild to severe immunodeficiency) and less prominent than that seen in deficiencies of NHEJ factors ARTEMIS and DNA-dependent protein kinase catalytic subunit, with defects in the hairpin opening step, which is crucial and unique for V(D)J recombination.

PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.

Background And Aim: Partial oculocutaneous albinism and immunodeficiency (OCA-ID) diseases are autosomal recessive syndromes characterized by partial hypopigmentation and recurrent infections. Moreover, some OCA-ID syndromes confer susceptibility to develop a life-threatening hyperinflammatory condition called hemophagocytic lymphohistiocytosis (HLH). We investigated the genetic, clinical and immunological characteristics of 20 OCA patients.

Combined immunodeficiencies: twenty years experience from a single center in Turkey.

Combined immunodeficiencies (CIDs) include a group of inherited monogenic disorders. CIDs are characterized by defective cellular and humoral immunities that lead to severe infections. CIDs can be classified according to immunologic phenotypes as T(-)B(-)NK(-) CID, T(-)B(-)NK(+) CID, T(-)B(+)NK(-) CID and T(-)B(+)NK(+) CID.

The Frequency of HLA-A, HLA-B, and HLA-DRB1 Alleles in Patients with Acute Lymphoblastic Leukemia in the Turkish Population: A Case-Control Study.

We studied the frequencies of human leukocyte antigen alleles (A, B, and DRB1) in 90 patients with acute lymphoblastic leukemia (ALL) and then compared them with 126 controls in this study. Although the frequencies of the A*03 allele, the DRB1*03 allele, the DRB1*04 allele, the A*02/B*35/DRB1*13 haplotype, and homozygosity of A*02 were higher in patients (p=0.006, p=0.

Increased Postexercise Lipoxin A4 Levels in Exhaled Breath Condensate in Asthmatic Children With Exercise-Induced Bronchoconstriction.

Background: Lipoxins could be potential modulators of inflammation in the lungs. To our knowledge, the role of exhaled breath condensate (EBC) lipoxin A4 (LXA4) in asthmatic children with exercise-induced bronchoconstriction (EIB) has not been investigated.

Objective: The aim of our study was to determine the involvement of EBC LXA4 in EIB.

Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.

Objectives: The only curative treatment for many patients with primary immunodeficiency disease is hematopoietic stem cell transplant. In this study, we report the transplant outcomes of patients with primary immunodeficiency diseases.

Materials And Methods: Herein, we present the transplant outcomes of 20 patients with primary immunodeficiency disease seen at our center in Kayseri, Turkey, from 2010 to 2015.

Three faces of recombination activating gene 1 (RAG1) mutations.

Severe combined immune deficiency (SCID) is a group of genetic disorder associated with development of T- and/or B-lymphocytes. Recombination-activating genes (RAG1/2) play a critical role on VDJ recombination process that leads to the production of a broad T-cell receptor (TCR) and B-cell receptor (BCR) repertoire in the development of T and B cells. RAG1/2 genes mutations result in various forms of primary immunodeficiency, ranging from classic SCID to Omenn syndrome (OS) to atypical SCID with such as granuloma formation and autoimmunity.

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics.

THE INFLUENCE OF HLA-DQ2 HETERODIMERS ON THE CLINICAL FEATURES AND LABORATORY OF PATIENTS WITH CELIAC DISEASE.

Background And Aim: the essential genetic marker related with celiac disease (CD) is the HLA-DQ2 molecule encoded by the DQA1*0501 and DQB1*0201 genes. The aim of this study is to evaluate effect of these alleles on the clinical, serological and histological features of Turkish children with celiac disease.

Material And Methods: we divided 36 celiac patients to 4 groups according to their HLA-DQ2 genotype based on the presence or absence of DQA1*0501 and DQB1*0201 alleles.

Autosomal recessive hyper IgM syndrome associated with activation-induced cytidine deaminase gene in three Turkish siblings presented with tuberculosis lymphadenitis - Case report.

The hyper-immunoglobulin M (HIGM) syndrome is a heterogeneous group of genetic disorders characterized by recurrent infections, decreased serum levels of immunoglobulin G (IgG) and IgA, and normal/increased serum levels of IgM. Herein, we describe three Turkish siblings with HIGM syndrome who had a homozygous missense mutation (c.70C>T, p.

Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene.

Clericuzio-type poikiloderma with neutropenia (PN) is characterized by poikiloderma, non-cyclic neutropenia, recurrent sinopulmonary infections, pachyonychia, and palmo-plantar hyperkeratosis. Mutations in the C16orf57 gene, which is located on chromosome 16q13, have been identified as the cause of PN. PN was first described by Clericuzio in Navajo Indians.

Contribution of KIR genes, HLA class I ligands, and KIR/HLA class I ligand combinations on the genetic predisposition to celiac disease and coexisting celiac disease and type 1 diabetes mellitus.

Backgound And Aim: There are some common genetic features between celiac disease (CD) and diabetes mellitus type 1 (DM). However, the genetic risk factors have not been fully clarified for CD and the co-occurrence of CD and DM. KIR (killer immunoglobulin-like receptor) genes regulate the cytolitic activity of NK-cells and T lymphocytes.

Relationships of Human Leukocyte Antigen-A, -B, -DRB1 Alleles, and Haplotypes in 129 Ethnic Turkish Patients With Acute Myeloblastic Leukemia.

Objective: To evaluate the frequencies of HLA class I (A, B) and class II (DRB1) alleles in acute myeloblastic leukemia (AML) and to compare them with the frequencies of those alleles in unrelated, healthy ethnic Turkish control subjects.

Method: We investigated the relationship of HLA alleles in 129 ethnic Turkish patients with AML and 126 unrelated, healthy, ethnic Turkish controls using the polymerase chain reaction with sequence-specific oligonucleotide probes (PCR-SSOP) method via Luminex technology.

Results: Allele frequencies of HLA-A*23, HLA-A*68, HLA-B*13, HLA-B*40, and HLA-DRB1*01 were lower in patients with AML compared with control individuals (P =.