CD3G gene defects in familial autoimmune thyroiditis.

The patients with CD3γ deficiency can present with different clinical findings despite having the same homozygous mutation. We report three new CD3gamma-deficient siblings from a consanguineous family with a combined T-B+NK+ immunodeficiency and their variable clinical and cellular phenotypes despite the same homozygous mutation of the CD3G gene (c.80-1G>C). We also re-evaluate a previously reported non-consanguineous family with two CD3gamma-deficient siblings with the same mutation. The median age at diagnosis was 11 years (14 months-20 years). We found all five patients to display autoimmunity: autoimmune thyroiditis (n = 5), autoimmune haemolytic anaemia (n = 2), immune thrombocytopenia (n = 1), autoimmune hepatitis (n = 1), minimal change nephrotic syndrome (n = 1), vitiligo (n = 1) and positive antinuclear antibodies (n = 3) as well as high IgE (n = 2) and atopic eczema (n = 2). While CD3(+) TCRαß+T cell percentages were low in all patients, only one had lymphopenia and 3 had CD3(+) T cell lymphopenia. Strikingly, we report frequent and multiple autoimmunity in tested heterozygous carriers in both families (n = 6; in 67%), and frequent autoimmunity in family members not available for testing (n = 5, in 80%). The results suggest that CD3G should be studied as a candidate gene for autoimmunity and that CD3gamma deficiency should be considered among other primary immunodeficiencies with predominantly autoimmune manifestations.

Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report.

Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X-associated protein) expression as a result from a novel mutation introducing a premature stopcodon in DE-region at amino acid 73.

The prevalences of allergic diseases in rural and urban areas are similar.

BACKGROUND: In this study, we aimed to detect the influence of environmental and socioeconomic factors for asthma, allergic rhinitis, and eczema among children aged 6-18 years. METHOD: Two each of schools located in urban and in rural areas were included in the study. Children in these schools were asked to respond to 32 questions in total, including demographic and socioeconomic features and the questions of the International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire form. RESULTS: The average age of children included in the study was 11.5 ± 3.3 years, and the ratio of boys (55.4%) to girls (44.6%) was 1.2/1. The prevalence of asthma was found as 11.5%, allergic rhinitis as 22.1%, and eczema as 10.7%. Asthma (21.9%), allergic rhinitis (44.3%) and eczema (19.8%) were more frequent in cases which had family history of atopy (p < 0.001). Although there were differences between regions regarding income and educational levels, number of persons in the household, duration of breast feeding, and dietary habits, these variants were found inconclusive for the development of asthma. The risk of progression to asthma and atopic diseases decreased as age increased and the educational level of the father increased. CONCLUSION: According to our results, atopic diseases can be considered frequent in Konya, history of atopy in the family is the most predictive factor and the effects of rural or urban factors are not obvious in atopic disease development.

CutLang v2: Advances in a Runtime-Interpreted Analysis Description Language for HEP Data.

We will present the latest developments in CutLang, the runtime interpreter of a recently-developed analysis description language (ADL) for collider data analysis. ADL is a domain-specific, declarative language that describes the contents of an analysis in a standard and unambiguous way, independent of any computing framework. In ADL, analyses are written in human-readable plain text files, separating object, variable and event selection definitions in blocks, with a syntax that includes mathematical and logical operations, comparison and optimisation operators, reducers, four-vector algebra and commonly used functions. Adopting ADLs would bring numerous benefits to the LHC experimental and phenomenological communities, ranging from analysis preservation beyond the lifetimes of experiments or analysis software to facilitating the abstraction, design, visualization, validation, combination, reproduction, interpretation and overall communication of the analysis contents. Since their initial release, ADL and CutLang have been used for implementing and running numerous LHC analyses. In this process, the original syntax from CutLang v1 has been modified for better ADL compatibility, and the interpreter has been adapted to work with that syntax, resulting in the current release v2. Furthermore, CutLang has been enhanced to handle object combinatorics, to include tables and weights, to save events at any analysis stage, to benefit from multi-core/multi-CPU hardware among other improvements. In this contribution, these and other enhancements are discussed in details. In addition, real life examples from LHC analyses are presented together with a user manual.

Reactivation of Resolved Hepatitis B virus Infection before the Relapse of Lymphoma : Immunosuppressive effect of the Lymphoproliferative disorders?

Hepatitis B virus (HBV) infection is a heterogeneous disease with distinct phases determined mainly by the interaction between virus replication and host immune response. HBV reactivation can occur spontaneously, developing resistance to antiviral treatment while the patient is undergoing treatment, after cessation of antiviral drugs, or be triggered by immunosuppressive drugs and chemotherapy. HBV reactivation can be severe and sometimes fatal because of liver failure. Here we report a patient with resolved HBV infection who presented with reactivation before being diagnosed with a relapse of non-Hodgkin lymphoma.