Progress on the early screening for primary immune deficiency disease / 中华实用儿科临床杂志

Primary immune deficiency disease (PID), caused by a single gene mutation, is caused by the abnormal number and function of immune cells and molecules.PID patients are prone to repeated infection, accompanied by allergy, autoimmunity, auto-inflammation and malignant diseases.The mortality and disability rates of PID are very high.Early diagnosis and treatment are helpful to improve the prognosis.At present, existing screening methods for PID include newborn screening for severe combined immunodeficiency disease using the T cell receptor excision circle assay, screening for agammaglobulinemia using the immunoglobulin Kappa recombining excision circle assay, screening for adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency using the tandem mass spectrometry, screening for specific protein defects using the proteomics, and screening for genetic variates using the next-generation sequencing.This review briefly summarized the current newborn screening technologies for PID, thus providing references for the development of screening PID in the future.

Research progress of neonatal hypoxic-ischemic encephalopathy treatment with mesenchymal stem cells / 中华实用儿科临床杂志

Neonatal hypoxic-ischemic encephalopathy (HIE) can result in serious outcomes including death during the newborn period and later neuropsychological handicaps.So far,there have been no obvious effect on the improvement of prognosis with traditional treatments,and the cryogenic treatment is the most effective treatment for the past decade,while the clinical application is limited by age and disease course.At present,stem cell transplantation in the treatment of HIE is the new direction,of which the mesenchymal stem cells are outstanding by its easy materials,low immunogenicity and potential nerve regeneration properties.This paper reviews and updates the progress of mesenchymal stem cell transplantation for neonatal HIE.