A Novel BTK Gene Mutation in a Child With Atypical X-Linked Agammaglobulinemia and Recurrent Hemophagocytosis: A Case Report

X-linked agammaglobulinemia (XLA), caused by a mutation in the Bruton’s tyrosine kinase (BTK) gene, is rarely reported in patients with recurrent hemophagocytic lymphohistiocytosis (HLH). This mutation leads to significantly reduced numbers of circulatory B cells and serum immunoglobulins in patients. Therefore, they exhibit repetitive bacterial infections since infancy, and immunoglobulin (Ig) replacement therapy is the primary treatment. HLH is a life-threatening condition with manifestations of nonremitting fever, hepatosplenomegaly, cytopenias, coagulopathy, lipid disorder, and multiple organ failure. It is caused by the immune dysregulation between cytotoxic T cells, NK cells, and histiocytes. The treatment is based on HLH-2004 protocol including immunotherapy, chemotherapy, supportive therapy, and the stem cell transplantation. However, as we know more about the classification and pathophysiology of HLH, the treatment is modified. T-cell-directed immune therapy is effective in patients with primary HLH, and strong immunosuppression is contraindicated in patients with severe ongoing infections or some PIDs. Here, we report the case of a 7-year-old boy who presented with ecthyma gangrenosum and several episodes of pyogenic infections during childhood. At the age of 5 years, he exhibited cyclic HLH every 2-3 months. The remission of HLH episodes finally achieved after he received monthly Ig replacement infusions (400 mg/kg) at the 4th HLH. However, transient elevati...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research

Related Links:

Publication date: Available online 17 September 2019Source: Journal of Materials Research and TechnologyAuthor(s): Lu Liu, Jiajun Qiu, Xuanyong LiuAbstractGraphene oxide (GO) has been widely investigated in biomedical fields due to its excellent biocompatibility. In the present study, GO films were fabricated on titanium surface by cathode electrophoretic deposition with the help of Mg2+ and Al3+. Responses of rat bone marrow mesenchymal stem cells to GO films with different alkali treatment, including urea hydrothermal treatment and sodium hydroxide hydrothermal treatment, were investigated. The results indicated that GO ...
Source: Journal of Materials Research and Technology - Category: Materials Science Source Type: research
Publication date: Available online 17 September 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Rebekah J. Hutcherson, Michael G. KempAbstractThe ATR protein kinase is known to protect cells from DNA damage induced during the replicative phase of the cell cycle. Small molecule ATR kinase inhibitors have therefore been developed to improve the effectiveness of DNA damage-based chemotherapy regimens aimed at killing rapidly proliferating tumor cells. However, whether ATR functions in a similar manner in non-replicating cells has not been examined and is important considering the fa...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - Category: Cytology Source Type: research
Publication date: 17 September 2019Source: Cell Reports, Volume 28, Issue 12Author(s): Banushree Kumar, Simon J. ElsässerSummaryTo understand the epigenomic foundation of naive pluripotency, we implement a quantitative multiplexed chromatin immunoprecipitation sequencing (ChIP-seq) method comparing mouse embryonic stem cells (ESCs) grown in 2i versus 2i/serum and serum conditions. MINUTE-ChIP has a large linear dynamic range for accurately quantifying relative differences in genome-wide histone modification patterns across multiple pooled samples. We find compelling evidence for a broad H3 lysine 27 trimethylation (H3...
Source: Cell Reports - Category: Cytology Source Type: research
We report a high-content screen for small-molecule regulators of the axonal transport of mitochondria. Six compounds enhanced mitochondrial transport in the sub-micromolar range, acting via three cellular targets: F-actin, Tripeptidyl peptidase 1 (TPP1), or Aurora Kinase B (AurKB). Pharmacological inhibition or small hairpin RNA (shRNA) knockdown of each target promotes mitochondrial axonal transport in rat hippocampal neurons and induced pluripotent stem cell (iPSC)-derived human cortical neurons and enhances mitochondrial transport in iPSC-derived motor neurons from an amyotrophic lateral sclerosis (ALS) patient bearing ...
Source: Cell Reports - Category: Cytology Source Type: research
ConclusionsWe conclude that AATG is a promising and safe modality for the treatment of the painful scar. There is an abundance of low-level evidence to support its use as an alternative treatment but there is a lack of high-level evidence at present to support its standard use. Future long-term randomized controlled trials with analgesic scores as the primary outcome measures are required to assess long-term efficacy.
Source: Cytotherapy - Category: Cytology Source Type: research
In conclusion, the current study provides evidence for a neuroprotective effect of LER and/or BM-MSCs in 3-NP-induced neurotoxicity in rats. Interestingly, combined LER/BM-MSC therapy was superior to cell therapy alone in inhibiting 3-NP-induced neurological insults via modulation of the Ca2+/CaN/NFATc4 and Wnt/β-catenin signalling pathways. LER/BM-MSC combined therapy may represent a feasible approach for improving the beneficial effects of stem cell therapy in HD.
Source: Neurochemistry International - Category: Neuroscience Source Type: research
This study assesses the clinical effect of SFI combined with chemotherapy for breast cancer patients. Materials and methods: Both English and Chinese databases were searched covering the time period of 1999- 2018 for relevant studies comparing the effect of SFI plus chemotherapy treatment with chemotherapy alone in patients with breast cancer. Target outcomes concerning treatment effect, performance status, immune system and toxic effects were extracted and combined using Stata version 15.0 software. Quality assessment was performed using the Jadad scale. Results: Forty-nine trials were included based on certain selection ...
Source: Pharmaceutical Biology - Category: Drugs & Pharmacology Tags: Pharm Biol Source Type: research
Authors: Petrakis I, Kontogiorgis C, Nena E, Athanasakis K, Gougoula V, Kotsianidis I, Constantinidis TC Abstract Introduction: Real-world effectiveness of hemato-oncology pharmaceuticals may not necessarily mimic clinical trial efficacy results, mainly due to demographic and clinical practice variability. The aim of this review was to systematically assess the availability of real-world evidence (RWE) and the transferability of clinical trial (CT) efficacy results to real life, for novel agents recently approved to manage lymphomas, leukemias and multiple myeloma. This is the largest cross-indication review compar...
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
Publication date: Available online 17 September 2019Source: Biosensors and BioelectronicsAuthor(s): Sanaz Asgarifar, Ana L.G. Mestre, Rute C. Félix, Pedro M.C. Inácio, Maria L.S. Cristiano, Maria C.R. Medeiros, Inês M. Araújo, Deborah M. Power, Henrique L. GomesAbstractHerein, we describe an electrophysiological based sensor that reproducibly monitors and quantifies in real-time collective migration and the formation of cell-cell junctions by C6 glioma cells seeded on top of electrodes. The signal amplitude and frequency generated by the migrating cells changed over time and these parameters were...
Source: Biosensors and Bioelectronics - Category: Biotechnology Source Type: research
Publication date: Available online 18 September 2019Source: Journal of Trace Elements in Medicine and BiologyAuthor(s): Chun Jiang, Qing-Qing Zhao, Qian Gao, Shao-Bin Wu, Guo Wang, Xiao-Ping Chen, Lin Wang, Ying-Ying Zhang, Jie TangAbstractBackground and AimMajor and trace elements play an important role in human body, and it has been reported that ionomic distribution differ greatly in tumor patients. The aim of the present study was to investigate the effects of cisplatin-based neoadjuvant chemoradiotherapy on the ionomic profile in human plasma as a potential biomarker for the therapeutic effects of cervical cancer.Meth...
Source: Journal of Trace Elements in Medicine and Biology - Category: Biochemistry Source Type: research
More News: Allergy & Immunology | Chemotherapy | Children | Genetics | Immunotherapy | Lymphoma | Macroglobulinemia | Myeloma | Stem Cell Therapy | Stem Cells | Transplants | Waldenstrom's Macroglobulinemia | X-Linked Agammaglobulinemia (XLA)