Browsing by Author "Khattri, Arun"
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Publication Advances in the Molecular Etiology of Severe Combined Immunodeficiency and Its Screening(Turkish Society of Immunology, 2023) Mahapatra, Ananya; Verma, Henu Kumar; Nag, Sagorika; Singh, Santosh; Khattri, Arun; Bhaskar, L.V.K.S.Severe combined immunodeficiency (SCID) is the most severe heterogeneous group of inherited disorders characterized by profound abnormalities such as humoral and cell-mediated immunity defects and hindered natural killer cell development and function. The knowledge of the molecular basis of SCID is essential for precise diagnosis and early treatment. In recent years, new genetic defects that cause SCID have been discovered, and the molecular and immunological mechanisms of SCID have been better understood. SCID symptoms include candidiasis, chronic diarrhea, failure to grow, and oral thrush. Hematopoietic stem cell transplantation, enzyme replacement therapy, and gene therapy are used to treat SCID. The prevalence of SCID varies worldwide. More than 80% of SCID infants have no family history of the condition. However, the development of a newborn screening test has enabled SCID detection before symptoms appear, ensuring that affected infants receive life-saving treatments. Countries that organize newborn screening programs for SCID can detect patients in their early stages of life and treat them accordingly. This review will serve as a source of up-to-date information on the identification of various genetic disorders that cause SCID, as well as their clinical characteristics, treatments, and diagnosis options, potentially saving the lives of many infants before pathogenic infections occur. � 2023 by the Turkish Society of Immunology.Publication Low expression of TMPRSS2�a SARS-CoV-2 internalization protease�associates with basal subtype of head and neck squamous cell carcinoma(Neoplasia Press, Inc., 2022) Tiwari, Jayesh; Tripathi, Nancy; Srivastava, Ravi Shanker; Kumar, Sujeet; Singh, Sanjay; Jain, Shreyans; Khattri, ArunSARS-CoV-2 is a single-stranded RNA virus that has caused the ongoing COVID-19 pandemic. ACE2 and other genes utilized by SARS-CoV-2 to enter human cells have been shown to express in Head and Neck Squamous Cell Carcinoma (HNSCC) patients. However, their expression pattern in different subtypes has not been investigated. Hence, in the current study, we have analyzed the expression of ACE2, TMPRSS2 and FURIN in 649 HNSCC patients from two independent cohorts. Our analysis showed significantly lower expression of TMPRSS2 while significantly increased expression of ACE2 and FURIN in HPV-negative HNSCC. Comparison of expression of these genes in the three subtypes of HNSCC patients (basal, classical and inflamed/mesenchymal) showed no significant difference in the expression of ACE2 among the three subtypes; however, the basal subtype showed significantly reduced expression of TMPRSS2 but significantly increased expression of FURIN. Comparison of expression of these genes between the HPV-negative patients of basal subtype vs all others confirmed significantly lower expression of TMPRSS2 in HPV-negative patients of basal subtype as compared to all others. Our study shows that the different subtypes of HNSCC patients have different expression patterns of genes utilized by the SARS-CoV-2 to enter human cells, and hence, their susceptibility to SARS-CoV-2 may also be different. As the expression of TMPRSS2 is significantly lower in the HNSCC patients of the basal subtype, we predict that these patients would be less susceptible to SARS-CoV-2 infection than the patients of other subtypes. However, these findings need to be further validated. � 2022Publication Sialyltransferases and Neuraminidases: Potential Targets for Cancer Treatment(Multidisciplinary Digital Publishing Institute (MDPI), 2022) Nag, Sagorika; Mandal, Abhimanyu; Joshi, Aryaman; Jain, Neeraj; Srivastava, Ravi Shanker; Singh, Sanjay; Khattri, ArunCancers are the leading cause of death, causing around 10 million deaths annually by 2020. The most common cancers are those affecting the breast, lungs, colon, and rectum. However, it has been noted that cancer metastasis is more lethal than just cancer incidence and accounts for more than 90% of cancer deaths. Thus, early detection and prevention of cancer metastasis have the capability to save millions of lives. Finding novel biomarkers and targets for screening, determination of prognosis, targeted therapies, etc., are ways of doing so. In this review, we propose various sialyltransferases and neuraminidases as potential therapeutic targets for the treatment of the most common cancers, along with a few rare ones, on the basis of existing experimental and in silico data. This compilation of available cancer studies aiming at sialyltransferases and neuraminidases will serve as a guide for scientists and researchers working on possible targets for various cancers and will also provide data about the existing drugs which inhibit the action of these enzymes. � 2022 by the authors.