1. Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India
- Author
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Prasad Taur, Manisha Madkaikar, Kirti Gupta, Madhubala Sharma, Deepti Suri, Johnson Nameirakpam, Anit Kaur, Alka Khadwal, Aparna Dalvi, Sagar Bhattad, Anjani Gummadi, Sreejesh Sreedharanunni, Michael S. Hershfield, Ranjana W. Minz, Sandip Bartakke, Tamaki Kato, Biman Saikia, Deenadayalan Munirathnam, Komal Singh, Harsha Prasada Lashkari, Fouzia Na, Amita Aggarwal, Raghuram Cp, Ramya Uppuluri, Ankit Mehta, Yu-Lung Lau, Ankita Singh, Neha Jodhawat, Surjit Singh, Revathi Raj, Stalin Ramprakash, Mukesh Desai, Yumi Ogura, Koon Wing Chan, Amit Rawat, Kaushal Sharma, Vijaya Gowri, Aruna Rajendran, Ankur Kumar Jindal, Ananthvikas Jayaram, Daniel Leung, Biju George, Rajni Kumrah, Shigeaki Nonoyama, Priyanka Kambli, Sarath Balaji, Kohsuke Imai, Pandiarajan Vignesh, Osamu Ohara, Anju Gupta, Ambreen Pandrowala, and Meena Sivasankaran
- Subjects
lcsh:Immunologic diseases. Allergy ,Male ,2019-20 coronavirus outbreak ,Pediatrics ,medicine.medical_specialty ,DCLRE1C ,medicine.medical_treatment ,Immunology ,India ,Hematopoietic stem cell transplantation ,Immune system ,medicine ,Humans ,Immunology and Allergy ,BCG ,Original Research ,Newborn screening ,newborn screening ,business.industry ,Infant ,medicine.disease ,Early infancy ,hematopoietic stem cell transplantation ,severe combined immune deficiency ,Primary immunodeficiency ,Female ,Severe Combined Immunodeficiency ,Age of onset ,lcsh:RC581-607 ,business - 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.
- Published
- 2021