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.

Forensic Application of Age Estimation Using Signal Joint T-Cell Receptor Excision Circles in Human Lymphoid Tissues / 대한법의학회지

The declining tendency of signal joint T-cell receptor excision circles (sjTRECs) in peripheral blood is known to be age-dependent, and their quantification in blood or bloodstains has recently been introduced as a tool for age estimation. Lymphoid tissues such as the thymus and spleen represent potential candidates for age estimation because they undergo age-related structural and functional changes. In the present study, the correlation between age and sjTREC levels in human lymphoid tissues, namely the thymus, spleen, and blood, obtained from autopsy cases were investigated, with the goal of establishing a reliable age estimation model. Results showed negative regression curves with coefficient values of r=-0.410, r=-0.611, and r=-0.584 for thymus, spleen, and blood, respectively. In addition, this model was testing using thymus samples from the torsos of dismembered bodies from two real forensic cases, and results showed the predicted ages to be close to the actual ages of the victims. Further study will be required to improve accuracy and reduce estimation error, particularly within the lower age range. Nonetheless, these results suggest that quantification of sjTRECs in not only blood but also in other lymphoid tissues could be a useful tool for age estimation in forensic cases.