Expert consensus on diagnosis,immunoreconstruction,and reproduction for infants with positive newborn screening of severe combined immunodeficiency
Severe combined immunodeficiency(SCID)is a pediatric medical emergency with early onset in life.As the most severe form of inborn error of immunity,SCID is generally fatal with most cases resulting in death before the age of 2 unless recognized and treated.Additionally,it diminishes the success rate of hematopoietic stem cell transplantation(HSCT).Newborn screening for SCID can facilitate early diagnosis before clinical symptoms emerge.However,the current implementation of SCID newborn screening in China is not widespread,causing a delay in diagnosing infants with positive screening results and subsequently delaying the timing of HSCT.To address this issue,the China Healthy Birth Science Association,Maternal and Child Health Management Branch and Shanghai Society for Immunology,Pediatric Immunology Branch,organized a multidisciplinary team of experts in newborn screening,hematology,immunology,infectious diseases,obstetrics,and laboratory medicine.By integrating domestic and international literature,they formulated 36 diagnostic and therapeutic recommendations covering the principles and processes of SCID newborn screening,the diagnostic procedures for infants with positive screening results,as well as aspects of HSCT and family planning.This consensus represents the first domestic initiative on SCID newborn screening,diagnosis,and intervention for infants with positive screening results.The aim is to facilitate early diagnosis of SCID,promote early treatment for asymptomatic infants within 3.5 months,and improve the survival rates of SCID while reducing its birth rate.
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