scholarly journals Clinical and Immunological Features of Human BCL10 Deficiency

2021 ◽  
Vol 12 ◽  
Author(s):  
Blanca Garcia-Solis ◽  
Ana Van Den Rym ◽  
Jareb J. Pérez-Caraballo ◽  
Abdulwahab Al–Ayoubi ◽  
Anas M. Alazami ◽  
...  
Keyword(s):  
Respiratory Infections ◽  
Genetic Diagnosis ◽  
Additional Patient ◽  
Detailed Knowledge ◽  
Hematopoietic Stem ◽  
Recommended Treatment ◽  
History Of ◽  
Different Populations ◽  
Human Immune

The CARD-BCL10-MALT1 (CBM) complex is critical for the proper assembly of human immune responses. The clinical and immunological consequences of deficiencies in some of its components such as CARD9, CARD11, and MALT1 have been elucidated in detail. However, the scarcity of BCL10 deficient patients has prevented gaining detailed knowledge about this genetic disease. Only two patients with BCL10 deficiency have been reported to date. Here we provide an in-depth description of an additional patient with autosomal recessive complete BCL10 deficiency caused by a nonsense mutation that leads to a loss of expression (K63X). Using mass cytometry coupled with unsupervised clustering and machine learning computational methods, we obtained a thorough characterization of the consequences of BCL10 deficiency in different populations of leukocytes. We showed that in addition to the near absence of memory B and T cells previously reported, this patient displays a reduction in NK, γδT, Tregs, and TFH cells. The patient had recurrent respiratory infections since early childhood, and showed a family history of lethal severe infectious diseases. Fortunately, hematopoietic stem-cell transplantation (HSCT) cured her. Overall, this report highlights the importance of early genetic diagnosis for the management of BCL10 deficient patients and HSCT as the recommended treatment to cure this disease.

scholarly journals Clinical and Immunological Features of Human BCL10 Deficiency

2021 ◽  
Author(s):  
Blanca Garcia Solis ◽  
Ana Van Den Rym ◽  
Jareb J. Pérez-Caraballo ◽  
Abdulwahab Al –Ayoubi ◽  
Lazaro Lorenzo ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Respiratory Infections ◽  
Genetic Diagnosis ◽  
Additional Patient ◽  
Hematopoietic Stem ◽  
Recommended Treatment ◽  
History Of ◽  
Different Populations ◽  
Human Immune

Abstract The CARD-BCL10-MALT1 (CBM) complex is critical for the proper assembly of human immune responses. The clinical and immunological consequences of deficiencies in some of its components such as CARD9, CARD11, and MALT1 have been elucidated in detail. However, the scarcity of BCL10 deficient patients prevented gaining that knowledge for this genetic disease. Only two patients with BCL10 deficiency have been reported to date. Here we describe in more depth an additional patient with autosomal recessive BCL10 complete deficiency caused by a nonsense mutation that leads to a loss of expression (K63X). Using mass cytometry coupled with unsupervised clustering and machine learning computational methods, we obtained a thorough characterization of the consequences of BCL10 deficiency in different populations of leukocytes. We showed that in addition to the almost absence of memory B and T cells reported before, this patient display a reduction in NK, gdT, Tregs, and TFH cells. The patient suffered from recurrent respiratory infections since early in life, and showed a family history of lethal severe infectious diseases. Fortunately, hematopoietic stem-cell transplantation (HSCT) cured her. Overall, this report highlights the importance of early genetic diagnosis for the management of BCL10 deficient patients and HSCT as the recommended treatment to cured this disease.

scholarly journals Characterization of BRCA1/2 mutations in patients with family history of breast cancer in Armenia

F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 29 ◽  
Author(s):  
Sofi Atshemyan ◽  
Andranik Chavushyan ◽  
Nerses Berberian ◽  
Arthur Sahakyan ◽  
Roksana Zakharyan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Breast Cancers ◽  
Single Nucleotide ◽  
History Of ◽  
Different Populations ◽  
Amino Acid Mutations ◽  
Armenian Population ◽  
Identification And Characterization

Background. Breast cancer is one of the most common cancers in women worldwide. The germline mutations of the BRCA1 and BRCA2 genes are the most significant and well characterized genetic risk factors for hereditary breast cancer. Intensive research in the last decades has demonstrated that the incidence of mutations varies widely among different populations. In this study we attempted to perform a pilot study for identification and characterization of mutations in BRCA1 and BRCA2 genes among Armenian patients with family history of breast cancer and their healthy relatives. Methods. We performed targeted exome sequencing for BRCA1 and BRCA2 genes in 6 patients and their healthy relatives. After alignment of short reads to the reference genome, germline single nucleotide variation and indel discovery was performed using GATK software. Functional implications of identified variants were assessed using ENSEMBL Variant Effect Predictor tool. Results. In total, 39 single nucleotide variations and 4 indels were identified, from which 15 SNPs and 3 indels were novel. No known pathogenic mutations were identified, but 2 SNPs causing missense amino acid mutations had significantly increased frequencies in the study group compared to the 1000 Genome populations. Conclusions. Our results demonstrate the importance of screening of BRCA1 and BRCA2 gene variants in the Armenian population in order to identity specifics of mutation spectrum and frequencies and enable accurate risk assessment of hereditary breast cancers.

scholarly journals Molecular Characterization of a Patient Presumed to Have Prader-Willi Syndrome

2013 ◽  
Vol 6 ◽  
pp. CCRep.S11510 ◽  
Author(s):  
Marina Falaleeva ◽  
Carlos R. Sulsona ◽  
Horst R. Zielke ◽  
Kathleen M. Currey ◽  
Pierre de la Grange ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Genetic Diagnosis ◽  
Chromosome 15 ◽  
Rna Expression ◽  
Prader Willi Syndrome ◽  
Post Mortem ◽  
Tissue Donors ◽  
Human Phenotype ◽  
History Of

Prader-Willi syndrome (PWS) is caused by the loss of RNA expression from an imprinted region on chromosome 15 that includes SNRPN, SNORD115, and SNORD116. Currently, there are no mouse models that faithfully reflect the human phenotype and investigations rely on human post-mortem material. During molecular characterization of tissue deposited in a public brain bank from a patient diagnosed with Prader-Willi syndrome, we found RNA expression from SNRPN, SNORD115, and SNORD116 which does not support a genetic diagnosis of Prader-Willi syndrome. The patient was a female, Caucasian nursing home resident with history of morbid obesity (BMI 56.3) and mental retardation. She died at age of 56 from pulmonary embolism. SNORD115 and SNORD116 are unexpectedly stable in post mortem tissue and can be used for post-mortem diagnosis. Molecular characterization of PWS tissue donors can confirm the diagnosis and identify those patients that have been misdiagnosed.

PERAN IBU DALAM PENINGKATAN SISTEM IMUN ANAK DENGAN INFEKSI SALURAN PERNAFASAN AKUT

2019 ◽  
Vol 11 (2) ◽  
pp. 79-86
Author(s):  
Cindy Ayustin Noya ◽  
Angkit Kinasih ◽  
Venti Agustina ◽  
R.Rr Maria Dyah Kurniasari
Keyword(s):  
Immune System ◽  
Acute Respiratory Infection ◽  
Lower Respiratory Tract ◽  
Research Method ◽  
Respiratory Infections ◽  
Acute Respiratory Infections ◽  
Clean Environment ◽  
History Of ◽  
Qualitative Descriptive

Infeksi saluran pernafasan akut atau yang sering disebut ISPA merupakan infeksi pada saluran pernafasan baik saluran pernafasan atas atau bawah.ISPA juga kebanyakan terjadi pada anak balita karena daya tahan tubuh mereka tidak kuat dalam menghadapi penyakit ISPA. ISPA mengakibatkan kematiansekitar15%-20% per tahun pada usia balita di Negara berkembang. Tujuan penelitian ini adalah untuk mengetahui dan menganalisa peran ibu dalam meningkatkan sistem imun anak dengan ISPA.Metode penelitian yang digunakan dalam penelitian ini adalah kualitatif deskriptif dengan sampel purposive sampling.Populasi dan sampel penelitian ini adalah ibu yang mempunyai anak dengan riwayat dan saat ini menderita penyakit ISPA di Batu Gajah Kota Ambon.Partisipan dalam penelitian ini berjumlah 5 orang. Hasil dari penelitian mendapati 4 kategori yaitu pemberian nutrisi pada anak untuk memenuhi kebutuhan agar sistem imunnya terjaga, kebersihan lingkungan, peran ibu dalam melakukan pencegahan pada anaknya yang mengalami ISPA, dan  peran ibu dalam menjaga dan mempertahankan kesehatan anaknya.   Kata kunci: peran ibu, sistem imun, ispa THE ROLE OF MOTHERS IN INCREASING IMMUNE SYSTEM OF CHILDREN WITH ACUTE RESPIRATORY INFECTION    ABSTRACT Acute respiratory infections or often called ARI is an infection of the upper or lower respiratory tract. ARI occurs mostly in children under the age of five because their endurance is not strong in dealing with ARI. ARI results in deaths of around 15%-20% per year at the age of under-five in developing countries. The purpose of this study was to determine and analyze the role of mothers in improving the immune system of children against ARI. The research method used in this study was qualitative descriptive with a purposive sampling sample. Respondents and samples of this study were five mothers who had children with a history of ARI and currently suffering from the disease in Batu Gajah, Ambon City. The results of the study found 4 categories, namely providing nutrition to children to meet their needs so that their immune systems are maintained, clean environment, mother's role in preventing children with ARI, and mother's role to preserve and maintain the health of their children. The findings indicated that in terms of coping or improving the immune system of a child to avoid ARI, it is necessary to have role the of mothers in providing nutrition so that the immune system is boosted, besides that the mother can prevent and protect her child from various diseases, especially ARI. Keywords: role of mothers, immune system, acute respiratory infections

Subversive Mobilities

Transfers ◽  
2013 ◽  
Vol 3 (1) ◽  
pp. 7-25 ◽  
Author(s):  
Mikkel Thelle
Keyword(s):  
Public Space ◽  
Cultural History ◽  
Turn Of The Century ◽  
Public Action ◽  
History Of ◽  
Urban Conflict

The article approaches mobility through a cultural history of urban conflict. Using a case of “The Copenhagen Trouble,“ a series of riots in the Danish capital around 1900, a space of subversive mobilities is delineated. These turn-of-the-century riots points to a new pattern of mobile gathering, the swarm; to a new aspect of public action, the staging; and to new ways of configuring public space. These different components indicate an urban assemblage of subversion, and a new characterization of the “throwntogetherness“ of the modern public.

Shakespeare Afoot

2018 ◽  
Author(s):  
John Kerrigan
Keyword(s):  
Early Modern ◽  
Richard Iii ◽  
Midsummer Night's Dream ◽  
As You Like It ◽  
A Midsummer Night's Dream ◽  
History Of ◽  
The Way

That Shakespeare adds a limp to the received characterization of Richard III is only the most conspicuous instance of his interest in how actors walked, ran, danced, and wandered. His attention to actors’ footwork, as an originating condition of performance, can be traced from Richard III through A Midsummer Night’s Dream and As You Like It into Macbeth, which is preoccupied with the topic and activity all the way to the protagonist’s melancholy conclusion that ‘Life’s but a walking shadow, a poor player | That struts and frets his hour upon the stage’. Drawing on classical and early modern accounts of how people walk and should walk, on ideas about time and prosody, and the experience of disability, this chapter cites episodes in the history of performance to show how actors, including Alleyn, Garrick, and Olivier, have worked with the opportunities to dramatize footwork that are provided by Shakespeare’s plays.

Theology in the Church of England

2017 ◽  
Author(s):  
B. W. Young
Keyword(s):  
Eighteenth Century ◽  
Church Of England ◽  
Ecclesiastical History ◽  
International Reputation ◽  
History Of ◽  
Joseph Butler ◽  
Anglican Theology ◽  
The Many ◽  
The Church

The dismissive characterization of Anglican divinity between 1688 and 1800 as defensive and rationalistic, made by Mark Pattison and Leslie Stephen, has proved more enduring than most other aspects of a Victorian critique of the eighteenth-century Church of England. By directly addressing the analytical narratives offered by Pattison and Stephen, this chapter offers a comprehensive re-evaluation of this neglected period in the history of English theology. The chapter explores the many contributions to patristic study, ecclesiastical history, and doctrinal controversy made by theologians with a once deservedly international reputation: William Cave, Richard Bentley, William Law, William Warburton, Joseph Butler, George Berkeley, and William Paley were vitalizing influences on Anglican theology, all of whom were systematically depreciated by their agnostic Victorian successors. This chapter offers a revisionist account of the many achievements in eighteenth-century Anglican divinity.

scholarly journals Peasants, Colonialism, and Sovereignty: The Garo rebellions in eastern India

2021 ◽  
pp. 1-37
Author(s):  
SANGHAMITRA MISRA
Keyword(s):  
Historical Narrative ◽  
Colonial State ◽  
Colonial India ◽  
Colonial Modernity ◽  
Northeastern India ◽  
British Rule ◽  
Core Elements ◽  
Colonial Archive ◽  
History Of

Abstract This article studies two seismic decades in the history of the Garo community, marked out in colonial records as among the most violent and isolated people that British rule encountered in eastern and northeastern India. Through a densely knit historical narrative that hinges on an enquiry into the colonial reordering of the core elements of the regional political economy of eastern and northeastern India, it will train its focus on the figure of the rebellious Garo peasant and on the arresting display of Garo recalcitrance between 1807 and 1820. Reading a rich colonial archive closely and against the grain, the article will depart from extant historiography in its characterization of the colonial state in the early nineteenth century as well as of its relationship with ‘tribes’/‘peasants’ in eastern and northeastern India. A critique of the idea of primitive violence and the production of the ‘tribe’ under conditions of colonial modernity will occupy the latter half of the article. Here it will argue that the numerous and apparently disparate acts of headhunting, raids, plunder, and burning by the Garos on the lowlands of Bengal and Assam were in fact an assembling of the first of a series of sustained peasant rebellions in this part of colonial India—a powerful manifestation of a community's historical consciousness of the loss of its sovereign self under British rule.

scholarly journals How Fear of COVID-19 Can Affect Treatment Choices for Anaplastic Large Cell Lymphomas ALK+ Therapy: A Case Report

Healthcare ◽  
2021 ◽  
Vol 9 (2) ◽  
pp. 135
Author(s):  
Antonello Sica ◽  
Caterina Sagnelli ◽  
Beniamino Casale ◽  
Gino Svanera ◽  
Massimiliano Creta ◽  
...  
Keyword(s):  
Cell Lymphoma ◽  
Large Cell ◽  
Brentuximab Vedotin ◽  
Caucasian Woman ◽  
Hematopoietic Stem ◽  
Drug Regulatory Agency ◽  
Clinical Center ◽  
History Of ◽  
Chemotherapy Patients ◽  
Pet Scans

Background: The t (2; 5) chromosomal rearrangement of the ALK gene with nucleophosmin 1 gene (NPM1), resulting in an NPM1–ALK fusion, was first demonstrated in 1994 in anaplastic large cell lymphoma, (ALCL), a T-cell lymphoma responsive to cyclophosphamide, abriblastine, vincristine and prednisone in approximately 80% of cases; refractory cases usually respond favorably to brentuximab vedotin. These treatments are regarded as a bridge to allogeneic hematopoietic stem cell transplantation (allo-SCT). Nowadays, transplant procedures and the monitoring of chemotherapy patients proceed very slowly because the SARS-CoV-2 pandemic has heavily clogged the hospitals in all countries. Results: A 40-year-old Caucasian woman was first seen at our clinical center in June 2020. She had ALCL ALK+, a history of failure to two previous therapeutic lines and was in complete remission after 12 courses of brentuximab, still pending allo-SCT after two failed donor selections. Facing a new therapeutic failure, we requested and obtained authorization from the Italian drug regulatory agency to administer 250 mg of crizotinib twice a day, a drug incomprehensibly not registered for ALCL ALK +. Conclusions: The response to crizotinib was optimal since no adverse event occurred, and CT-PET scans persisted negative; this drug has proved to be a valid bridge to allo-SCT.

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