학술논문
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India
Document Type
article
Author
Pandiarajan Vignesh; Amit Rawat; Rajni Kumrah; Ankita Singh; Anjani Gummadi; Madhubala Sharma; Anit Kaur; Johnson Nameirakpam; Ankur Jindal; Deepti Suri; Anju Gupta; Alka Khadwal; Biman Saikia; Ranjana Walker Minz; Kaushal Sharma; Mukesh Desai; Prasad Taur; Vijaya Gowri; Ambreen Pandrowala; Aparna Dalvi; Neha Jodhawat; Priyanka Kambli; Manisha Rajan Madkaikar; Sagar Bhattad; Stalin Ramprakash; Raghuram CP; Ananthvikas Jayaram; Meena Sivasankaran; Deenadayalan Munirathnam; Sarath Balaji; Aruna Rajendran; Amita Aggarwal; Komal Singh; Fouzia Na; Biju George; Ankit Mehta; Harsha Prasada Lashkari; Ramya Uppuluri; Revathi Raj; Sandip Bartakke; Kirti Gupta; Sreejesh Sreedharanunni; Yumi Ogura; Tamaki Kato; Kohsuke Imai; Koon Wing Chan; Daniel Leung; Osamu Ohara; Shigeaki Nonoyama; Michael Hershfield; Yu-Lung Lau; Surjit Singh
Source
Frontiers in Immunology, Vol 11 (2021)
Subject
Language
English
ISSN
1664-3224
Abstract
BackgroundSevere Combined Immune Deficiency (SCID) is an inherited defect in lymphocyte development and function that results in life-threatening opportunistic infections in early infancy. Data on SCID from developing countries are scarce.ObjectiveTo describe clinical and laboratory features of SCID diagnosed at immunology centers across India.MethodsA detailed case proforma in an Excel format was prepared by one of the authors (PV) and was sent to centers in India that care for patients with primary immunodeficiency diseases. We collated clinical, laboratory, and molecular details of patients with clinical profile suggestive of SCID and their outcomes. Twelve (12) centers provided necessary details which were then compiled and analyzed. Diagnosis of SCID/combined immune deficiency (CID) was based on 2018 European Society for Immunodeficiencies working definition for SCID.ResultsWe obtained data on 277 children; 254 were categorized as SCID and 23 as CID. Male-female ratio was 196:81. Median (inter-quartile range) age of onset of clinical symptoms and diagnosis was 2.5 months (1, 5) and 5 months (3.5, 8), respectively. Molecular diagnosis was obtained in 162 patients - IL2RG (36), RAG1 (26), ADA (19), RAG2 (17), JAK3 (15), DCLRE1C (13), IL7RA (9), PNP (3), RFXAP (3), CIITA (2), RFXANK (2), NHEJ1 (2), CD3E (2), CD3D (2), RFX5 (2), ZAP70 (2), STK4 (1), CORO1A (1), STIM1 (1), PRKDC (1), AK2 (1), DOCK2 (1), and SP100 (1). Only 23 children (8.3%) received hematopoietic stem cell transplantation (HSCT). Of these, 11 are doing well post-HSCT. Mortality was recorded in 210 children (75.8%).ConclusionWe document an exponential rise in number of cases diagnosed to have SCID over the last 10 years, probably as a result of increasing awareness and improvement in diagnostic facilities at various centers in India. We suspect that these numbers are just the tip of the iceberg. Majority of patients with SCID in India are probably not being recognized and diagnosed at present. Newborn screening for SCID is the need of the hour. Easy access to pediatric HSCT services would ensure that these patients are offered HSCT at an early age.