The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India

Authors: Snehal Shabrish, Madhura Kelkar, Reetika Malik Yadav, Umair Ahmed Bargir, Maya Gupta, Aparna Dalvi, Jahnavi Aluri, Manasi Kulkarni, Shweta Shinde, Sneha Sawant-Desai, Priyanka Kambli, Gouri Hule, Priyanka Setia, Neha Jodhawat, Pallavi Gaikwad, Amruta Dhawale, Nayana Nambiar, Vijaya Gowri, Ambreen Pandrowala, Prasad Taur, Revathi Raj, Ramya Uppuluri, Ratna Sharma, Pranoti Kini, Meena Sivasankaran, Deenadayalan Munirathnam, Ramprasad Vedam, Pandiarajan Vignesh, Aaqib Banday, Amit Rawat, Amita Aggarwal, Ujjal Poddar, Meenakshi Girish, Abhijit Chaudhary, Abhilasha Sampagar, Dharani Jayaraman, Narendra Chaudhary, Nitin Shah, Farah Jijina, S. Chandrakla, Swati Kanakia, Brijesh Arora, Santanu Sen, Madhukar Lokeshwar, Mukesh Desai, Manisha Madkaikar

Source: Frontiers in Immunology, Vol 12 (2021)

Subject Terms: familial hemophagocytic lymphohistocytosis, perforin, degranulation, HLH-targeted therapy, flow cytomertry, NGS, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2021.612583/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/8417d481a8d94c5c932e6d89d74b864f

Natural Killer Cell Degranulation Defect: A Cause for Impaired NK-Cell Cytotoxicity and Hyperinflammation in Fanconi Anemia Patients

Authors: Snehal Shabrish, Madhura Kelkar, Niranjan Chavan, Mukesh Desai, Umair Bargir, Maya Gupta, Priti Mehta, Akanksha Chichra, Chandrakala S, Prasad Taur, Vinay Saxena, Babu Rao Vundinti, Manisha Madkaikar

Source: Frontiers in Immunology, Vol 10 (2019)

Subject Terms: Fanconi anemia, NK cell degranulation defect, Familial Hemophagocytic lymphohistiocytosis (FHL), HLH-targeted therapy, NK cell cytotoxicity, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2019.00490/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/5380a41d41c14bcca8714135f40d8eb0