Parag Tamhankar: Landmark Study Reveals Genetic Spectrum and Targeted Therapies for ALPS in the Indian Population
Parag Tamhankar, Visiting Consultant Geneticist at Dr. D.Y. Patil Medical College, Hospital and Research Centre, shared a post on LinkedIn about a recent article he and his colleagues co-authored, published in Journal of Clinical Immunology, adding:
“A landmark study published in the Journal of Clinical Immunology by Setia et al. provides the first comprehensive evaluation of Autoimmune Lymphoproliferative Syndrome (ALPS) and FAS-mediated apoptotic pathway defects within the Indian population.
Investigating 31 patients using Next-Generation Sequencing (NGS), the researchers uncovered a distinct genetic spectrum led by variants in FAS (41.93%), followed by FADD (25.80%), FASLG (12.90%), CASP8 (6.45%), CASP10 (3.22%), and ALPS-U (9.67%).
Clinical manifestations predominantly included classic lymphoproliferation and autoimmune cytopenias, alongside atypical features such as colitis and autoinflammatory phenotypes.
Immunophenotyping revealed elevated double-negative T cells (DNTs) and widespread mTOR hyperactivity across most genetic subtypes.
Therapeutically, patients showed favorable responses to targeted immunosuppressive regimes like sirolimus and mycophenolate mofetil (MMF), while a patient with a CASP8 defect was successfully treated via hematopoietic stem cell transplantation (HSCT).
Ultimately, this research underscores the vital role of comprehensive molecular profiling via NGS in accelerating accurate diagnosis, unravelling phenotypic heterogeneity, and guiding precision therapies for rare inborn errors of immunity.”
Title: Autoimmune Lymphoproliferative Syndrome (ALPS) in Indian Population: Clinical, and Immunological Diversity in Genes Related to FAS-Mediated Apoptotic Pathway
Authors: Priyanka Setia, Umair Ahmed Bargir, Aparna Dalvi, Neha Jodhawat, Shweta Shinde, Maya Gupta, Chandrakala Shainmukhaih, Aruna Rajendra, Rishab Bharadwaj, Sarita Verma, Ambreen Pandrowala, Amit Jain, Shweta Bansal, Mukesh Desai, Piyush Pathak, Suma Balan, Parag Tamhankar, Reetika Malik Yadav, Manisha Madkaikar
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