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
Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of immune dysregulation characterized by hyperactivation of the immune system, excessive cytokine secretion and severe systemic inflammation. HLH is classified as familial (FHL) when associated with mutations in PRF1, UNC13D, STX11 , and STXBP2 genes. There is limited information available about the clinical and mutational spectrum of FHL patients in Indian population. This study is a retrospective analysis of 101 molecularly characterized FHL patients over the last 10 years from 20 different referral centers in India...
2021: Frontiers in Immunology