MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation.

Background: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) disease is a primary immunodeficiency due to loss-of-function mutations in the gene encoding for magnesium transporter 1 (MAGT1). Furthermore, as MAGT1 is involved in the N-glycosylation process, XMEN disease is classified as a congenital disorder of glycosylation. Although XMEN-associated immunodeficiency is well described, the mechanisms underlying platelet dysfunction and those responsible for life-threatening bleeding events have never been investigated.

Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure.

Zinc is an essential trace mineral. Dietary zinc deficiency results in stunted growth, skin lesions, hypogonadism and frequent infections in humans. Mice genetically lacking Slc30a7 suffer from mild zinc deficiency and are prone to development of prostate cancer and insulin resistance.

The RAG1 Ubiquitin Ligase Domain Stimulates Recombination of TCRβ and TCRα Genes and Influences Development of αβ T Cell Lineages.

RAG1/RAG2 (RAG) endonuclease-mediated assembly of diverse lymphocyte Ag receptor genes by V(D)J recombination is critical for the development and immune function of T and B cells. The RAG1 protein contains a ubiquitin ligase domain that stabilizes RAG1 and stimulates RAG endonuclease activity in vitro. We report in this study that mice with a mutation that inactivates the Rag1 ubiquitin ligase in vitro exhibit decreased rearrangements and altered repertoires of TCRβ and TCRα genes in thymocytes and impaired thymocyte developmental transitions that require the assembly and selection of functional TCRβ and/or TCRα genes.

IL-26 inhibits hepatitis C virus replication in hepatocytes.

Background & Aims: Interleukin-26 (IL-26) is a proinflammatory cytokine that has properties atypical for a cytokine, such as direct antibacterial activity and DNA-binding capacity. We previously observed an accumulation of IL-26 in fibrotic and inflammatory lesions in the livers of patients with chronic HCV infection and showed that infiltrating CD3 lymphocytes were the principal source of IL-26. Surprisingly, IL-26 was also detected in the cytoplasm of hepatocytes from HCV-infected patients, even though these cells do not produce IL-26, even when infected with HCV.

The RAG1 N-terminal region regulates the efficiency and pathways of synapsis for V(D)J recombination.

Immunoglobulin and T cell receptor gene assembly depends on V(D)J recombination initiated by the RAG1-RAG2 recombinase. The RAG1 N-terminal region (NTR; aa 1-383) has been implicated in regulatory functions whose influence on V(D)J recombination and lymphocyte development in vivo is poorly understood. We generated mice in which RAG1 lacks ubiquitin ligase activity (P326G), the major site of autoubiquitination (K233R), or its first 215 residues (Δ215).

The association of pulmonary fibrosis with diabetes mellitus.

https://bit.ly/3gNgjeU.

Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection.

Epstein-Barr virus (EBV) preferentially infects epithelial cells and B lymphocytes and sometimes T and NK lymphocytes. Persistence of EBV-infected cells results in severe lymphoproliferative disorders (LPDs). Diagnosis of EBV-driven T or NK cell LPD and chronic active EBV diseases (CAEBV) is difficult, often requiring biopsies.

[Treatment of ITP and AIHA in CVID: A systematic literature review].

Introduction: Ten to 15% of common variable immunodeficiencies (CVID) develop auto-immune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP). Treatment is based on immunosuppressants, which produce blocking effects in the CVID. Our objective was to assess their risk-benefit ratio in these immunocompromised patients.

IL-26, a Cytokine With Roles in Extracellular DNA-Induced Inflammation and Microbial Defense.

Interleukin 26 (IL-26) is the most recently identified member of the IL-20 cytokine subfamily, and is a novel mediator of inflammation overexpressed in activated or transformed T cells. Novel properties have recently been assigned to IL-26, owing to its non-conventional cationic, and amphipathic features. IL-26 binds to DNA released from damaged cells and, as a carrier molecule for extracellular DNA, links DNA to inflammation.

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic /NEMO mutations.

X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the gene encoding the nuclear factor κB essential modulator (NEMO) protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, and therapeutic decisions are difficult because NEMO operates in both hematopoietic and nonhematopoietic cells. Hematopoietic stem cell transplantation (HSCT) is potentially life-saving, but the small number of case reports available suggests it has been reserved for only the most severe cases.

Effect of genioglossus, geniohyoid, and digastric advancement on tongue base and hyoid position.

Objectives/hypothesis: To assess the effect of genioglossus, geniohyoid, and anterior digastric muscle advancement on base of tongue and hyoid position.

Study Design: Cadaver experiments.

Methods: In fresh cadavers, the mandibular attachments of the genioglossus, geniohyoid, and anterior digastric muscles were advanced anteriorly by 6, 10, or 14 mm, and the anterior displacement of the base of tongue and hyoid was measured.

[Innate immunity primary immunodeficiencies and infections].

The diagnosis of primary immunodeficiency diseases (PIDs) is important for the early and adaptive care of patients and their families. Among the various known PIDs, a number of them concern the innate immune system, which involve a set of cells and mechanisms involved in the host defense by a nonspecific and fast response. The majority of patients with innate immunity defects have a predisposition to one isolated type of infection (bacterial, viral, or fungal), dependent on the genetic defect involved.

Clusterin facilitates apoptotic cell clearance and prevents apoptotic cell-induced autoimmune responses.

Clusterin (Clu), an extracellular chaperone, exhibits characteristics of soluble innate immunity receptors, as assessed by its ability to bind some bacteria strains. In this study, we report that Clu also binds specifically to late apoptotic cells but not to live, early apoptotic, or necrotic cells. Histones, which accumulate on blebs during the apoptotic process, represent privileged Clu-binding motifs at the surface of late apoptotic cells.

IL-26 is overexpressed in chronically HCV-infected patients and enhances TRAIL-mediated cytotoxicity and interferon production by human NK cells.

Objective: Interleukin-26 (IL-26) is a member of the IL-10 cytokine family, first discovered based on its peculiar expression by virus-transformed T cells. IL-26 is overexpressed in chronic inflammation (rheumatoid arthritis and Crohn's disease) and induces proinflammatory cytokines by myeloid cells and some epithelial cells. We thus investigated the expression and potential role of IL-26 in chronic HCV infection, a pathology associated with chronic inflammation.

[Interest of a sterilised anti-burning gel in radiation dermatitis: results of a comparative study].

Trial objectives were to assess effectiveness and tolerance of sterilized Avène thermal spring water anti burning gel (ATSW gel) in prevention of radiation dermatitis in adults irradiated (6 weeks) for breast (n=61) or head and neck (n=8) cancer. Patients included in this open labelled, 2 parallel groups, multicentric study, were randomly assigned to apply five times daily for ten weeks either the Avène spring water gel (n=35) or trolamine cream (n=34). The median of emergence of the first objective radiation dermatitis signs was 31 days in the ATSW gel group and 29 days in the control group (p=0,924).

Combined chemotherapy-radiotherapy in advanced Hodgkin's disease: results of a prospective clinical trial with 70 stage IIIB-IV patients.

Purpose: To evaluate two regimens of chemotherapy followed by high dose total or subtotal nodal irradiation in advanced Stages of Hodgkin's disease.

Methods And Materials: From October 1980 to September 1985, 70 patients with Hodgkin's disease, with clinical Stages IIIB (35 cases) and IV (35 cases) were treated with combined modality therapy. Patients were randomly assigned to receive four cycles of chemotherapy, mechlorethamine, vincristine, procarbazine and prednisone (MOPP) versus the same regimen alternating with adriamycin, bleomycin, vinblastine and dacarbazine, ABVD-derived regimen, followed by high-dose (40 Gy) total or subtotal nodal irradiation.

Hodgkin's disease, clinical stages I, II A-B and IIIA. Results of brief chemotherapy followed by irradiation.

From October 1980 to September 1985, 152 patients with Hodgkin's disease (HD) in clinical stages (CS) I, II A-B and IIIA were treated with combined modality therapy (CMT): brief chemotherapy (CT) followed by radiotherapy (RT). CS IA and IIA cases received 3 cycles of MOP, while CS IB, IIB and IIIA cases were randomly assigned to receive MOP or MOP alternating with ABVD (4 cycles). Irradiation was delivered according to the areas initially involved and response to CT.

Radiation-induced lung injuries: a survey by computed tomography and pulmonary function tests in 18 cases of Hodgkin's disease.

Eighteen patients with Hodgkin's disease received chemotherapy and 40 Gy mantle-field irradiation. Radiation-induced lung injuries were studied 5 times during one year for each patient by chest x-ray, CT examination of the thorax and pulmonary function tests. Homogeneous and inhomogeneous densities developed within the radiations ports.

[Early post-radiation pericardial changes in Hodgkin's disease. Value of x-ray computed tomography].

Eighteen patients with mediastinal Hodgkin's disease treated with chemotherapy first, then irradiation were investigated during 1 year by means of 5 CT and radiological examinations of the chest. Four months after irradiation pericardial thickening was detected in 60 p. cent of the patients.

[Supratentorial glioblastoma in adults. Therapeutic results].

This retrospective study concerns 55 adult patients with supratentorial glioblastoma. The tumours were treated by complete or partial surgical excision whenever possible (31 cases), radiotherapy (22 cases) in doses of 60 Gy over 6 to 7 weeks (40 Gy with telecobalt and 20 Gy with superimposed electrons) and multiple chemotherapy (10 cases) with VM26 and CCNU or BCNU. Although the number of patients in some categories was too small for statistical evaluation, the results obtained were in agreement with those found in the literature and indicative of what can be expected.

[An unusual form of neoplastic lymphangitis in an irradiated field].

The authors describe an exceptional form of neoplastic lymphangitis occurring in old people some years after surgery and irradiation of a cancer (parotid, breast), the special character of which is that it draws exactly the fields of irradiation. This lymphangitis is at first smooth and later covered with neoplastic nodes which join together. Evolution is in any case the death after some weeks or months.