Turkish physicians' approach towards primary immunodeficiencies

30th Congress of the European-Academy-of-Allergy-and-Clinical-Immunology (EAACI) -- JUN 11-15, 2011 -- Istanbul, TURKEYWOS: 000329462202440European Acad Allergy & Clin Immunol (EAACI

Hematopoetic Stem Cell Transplantation (HSCT) for Primary Immunodeficiency Diseases (PIDS): Clinical Features and Outcome (A Single Center Experience)

16th Biennial Meeting of the European-Society-for-Immunodeficiencies -- OCT 29-NOV 01, 2014 -- Prague, CZECH REPUBLICWOS: 000347389100289European Soc Immunodeficiencie

Is there any difference regarding atopy between children with familial Mediterranean fever and healthy controls?

Introduction: There are only a few studies regarding the prevalence of atopy in Familial Mediterranean fever (FMF) patients, and their results are conflicting

Multilocus Sequence-Based Analysis Delineates a Clonal Population of Agrobacterium (Rhizobium) radiobacter (Agrobacterium tumefaciens) of Human Origin ▿

The genus Agrobacterium includes plant-associated bacteria and opportunistic human pathogens. Taxonomy and nomenclature within the genus remain controversial. In particular, isolates of human origin were all affiliated with the species Agrobacterium (Rhizobium) radiobacter, while phytopathogenic strains were designated under the synonym denomination Agrobacterium tumefaciens. In order to study the relative distribution of Agrobacterium strains according to their origins, we performed a multilocus sequence-based analysis (MLSA) on a large collection of 89 clinical and environmental strains from various origins. We proposed an MLSA scheme based on the partial sequence of 7 housekeeping genes (atpD, zwf, trpE, groEL, dnaK, glnA, and rpoB) present on the circular chromosome of A. tumefaciens C58. Multilocus phylogeny revealed that 88% of the clinical strains belong to genovar A7, which formed a homogeneous population with linkage disequilibrium, suggesting a low rate of recombination. Comparison of genomic fingerprints obtained by pulsed-field gel electrophoresis (PFGE) showed that the strains of genovar A7 were epidemiologically unrelated. We present genetic evidence that genovar A7 may constitute a human-associated population distinct from the environmental population. Also, phenotypic characteristics, such as culture at 42°C, agree with this statement. This human-associated population might represent a potential novel species in the genus Agrobacterium

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects

Background: V(D)J recombination ensures the diversity of the adaptive immune system. Although its complete defect causes severe combined immunodeficiency (ie, T-B- severe combined immunodeficiency), its suboptimal activity is associated with a broad spectrum of immune manifestations, such as late-onset combined immunodeficiency and autoimmunity. The earliest molecular diagnosis of these patients is required to adopt the best therapy strategy, particularly when it involves a myeloablative conditioning regimen for hematopoietic stem cell transplantation. Objective: We aimed at developing biomarkers based on analysis of the T-cell receptor (TCR) alpha repertoire to assist in the diagnosis of patients with primary immunodeficiencies with V(D) J recombination and DNA repair deficiencies. Methods: We used flow cytometric (fluorescence-activated cell sorting) analysis to quantify TCR-V alpha 7.2-expressing T lymphocytes in peripheral blood and developed PROMIDIS alpha, a multiplex RT-PCR/next-generation sequencing assay, to evaluate a subset of the TCR alpha repertoire in T lymphocytes. Results: The combined fluorescence-activated cell sorting and PROMIDISa analyses revealed specific signatures in patients with V(D) J recombination-defective primary immunodeficiencies or ataxia telangiectasia/Nijmegen breakage syndromes. Conclusion: Analysis of the TCR alpha repertoire is particularly appropriate in a prospective way to identify patients with partial immune defects caused by suboptimal V(D) J recombination activity, a DNA repair defect, or both. It also constitutes a valuable tool for the retrospective in vivo functional validation of variants identified through exome or panel sequencing. Its broader implementation might be of interest to assist early diagnosis of patients presenting with hypomorphic DNA repair defects inclined to experience acute toxicity during prehematopoietic stem cell transplantation conditioning