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.
Highlights
Severe Combined Immune Deficiency (SCID) is an inborn error of immunity characterized by defect in T lymphocyte development and function
A detailed case proforma in an Excel format was prepared by one of the authors (PV) and was sent to centers that are recognized as Foundation for Primary Immunodeficiency Diseases (FPID) centers for care of primary immunodeficiencies in India
Rise in number of cases over years paralleled the expansion of available manpower resources and laboratory facilities for pediatric immunology at Advanced Pediatrics Centre, PGIMER (North India)
Summary
Severe Combined Immune Deficiency (SCID) is an inborn error of immunity characterized by defect in T lymphocyte development and function. Children with SCID often develop life-threatening opportunistic fungal, bacterial, or viral infections in early infancy. Recent data suggest an incidence of SCID as high as 1 in 3,000 live births in countries with high consanguinity rates (2). Diagnosis and management are essential for successful outcomes Several countries such as United States of America, Israel, Germany, Switzerland, Sweden, Norway, Iceland, New Zealand, and Taiwan have initiated newborn screening for SCID based on quantification of T-cell receptor excision circles (TRECs) to facilitate early diagnosis (3). Severe Combined Immune Deficiency (SCID) is an inherited defect in lymphocyte development and function that results in life-threatening opportunistic infections in early infancy.
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