A study of newborn screening for severe combined immunodeficiency (SCID) by detecting the T-cell receptor excision circle (TRECs) copy number in dried blood spots (DBSs) collected from newborns 3 days of age began in 2010 in Taiwan, and SCID screening was subsequently implemented country-wide in 2012. A total of 920,398 newborns were screened during a period of 78 months. Of these, 175 newborns (0.02%) were requested to undergo an immune function survey, and 136 cases (1 in 6768 newborns) were ultimately diagnosed as having T cell lymphopenia. The screening detected seven cases of typical SCID, with an incidence of 1 in 131,485 newborns (95% confidence interval, 1/63,693~1/271,434). Hematopoietic stem cell transplantation was performed in six patients before overt infection occurred, and the survival rate was 100%. The screening also detected eight cases of SCID variants and 20 cases of 22q11.2 deletion syndrome. Other etiologies of T lymphopenia were identified, and those newborns were evaluated and managed according to their immunological status. Owing to the introduction of newborn screening by measuring the TREC copy number, early administration of treatments became possible for newborns with conditions that put them at risk of primary or secondary immunodeficiency.

Objective. The relationship between autoimmune disease and cancer is complex while large-scale epidemiological studies of cancer risk in Behçet disease (BD) have not been reported. Therefore, we conducted a nationwide population-based cohort study. Methods. By using the National Health Insurance Research Database of 23 million people in Taiwan, we identified 1314 new patients with BD without previous cancer from 2000–2009 as a cohort. Standardized incidence ratios (SIR) of overall and site-specific cancers in patients with BD in comparison with the general population were calculated from 2000–2011. Results. Among the 1314 patients with BD, 30 developed cancers (9 men and 21 women). In overall cancer risk analysis, patients with BD had a higher risk (SIR 1.5, 95% CI 1.03–2.11). Among them, female patients with BD (SIR 1.8, 95% CI 1.14–2.7), but not male patients with BD (SIR 1.08, 95% CI 0.53–1.98), have a higher risk of overall cancer. In site-specific cancer risk analysis, patients with BD had a higher risk of non-Hodgkin lymphoma (SIR 8.3, 95% CI 2.1–22.7), hematological malignancy (SIR 4.2, 95% CI 1.3–10.2), and female breast cancer (SIR 2.2, 95% CI 1.004–4.1). The cancer risk was highest within the first-year followup (SIR 2.7, 95% CI 1.3–5.1), with 75% of the hematological malignancies found within the first year. Conclusion. This nationwide cohort study of cancer risk in patients with BD provides important information about the relationship between BD and malignancies. The results can be useful for cancer surveys in the future.

We conducted this nationwide population-based study in Taiwan to investigate whether there is a bidirectional relationship between SLE and non-Hodgkin’s lymphoma (NHL). Using the National Health Insurance Research Database of Taiwan, we identified 16 417 patients with new-onset SLE without previous cancer and 25 069 patients with new-onset NHL without previous SLE as two non-overlapping cohorts from 1998–2012, and followed them until 2013. Standardized incidence ratio (SIR) for NHL in the patients with SLE and SIR for SLE in the patients with NHL were compared with the general population. Among the 16 417 patients with SLE, 512 developed cancers, including 34 with NHL. The highest SIR was that for NHL (SIR 4.2, 95% CI 2.9, 5.9) in site-specific cancer risk analysis. Among the 25 069 patients with NHL, 14 developed SLE, and the SIR was also increased (SIR 2.0, 95% CI 1.1, 3.4). The SIRs of the patients with SLE to develop NHL and the patients with NHL to develop SLE were both highest within the first year after the diagnosis of each disease. This nationwide population-based study is the first study to report a bidirectional relationship between SLE and NHL. This finding may suggest being alert for the patients with SLE or NHL who have early sings of the other disease in clinical care.

Granulomatous inflammation causes severe tissue damage in mycobacterial infection while redox status was reported to be crucial in the granulomatous inflammation. Here, we used a NADPH oxidase 2 (NOX2)-deficient mice (Ncf1^-/-) to investigate the role of leukocyte-produced reactive oxygen species (ROS) in mycobacterium-induced granulomatous inflammation. We found poorly controlled mycobacterial proliferation, significant body weight loss, and a high mortality rate after M. marinum infection in Ncf1^-/- mice. Moreover, we noticed loose and neutrophilic granulomas and higher levels of interleukin (IL)-1β and neutrophil chemokines in Ncf1^-/- mice when compared with those in wild type mice. The lack of ROS led to reduced production of IL-1β in macrophages, whereas neutrophil elastase (NE), an abundant product of neutrophils, may potentially exert increased inflammasome-independent protease activity and lead to higher IL-1β production. Moreover, we showed that the abundant NE and IL-1β were present in the caseous granulomatous inflammation of human TB infection. Importantly, blocking of IL-1β with either a specific antibody or a recombinant IL-1 receptor ameliorated the pulmonary inflammation. These findings revealed a novel role of ROS in the early pathogenesis of neutrophilic granulomatous inflammation and suggested a potential role of IL-1 blocking in the treatment of mycobacterial infection in the lung.