Home-based subcutaneous immunoglobulin after switch from intravenous immunoglobulin improved quality of life in pediatric patient with common variable immunodeficiency: A case report

　Common variable immunodeficiency (CVID) is one of the primary immunodeficiency. Regular immunoglobulin G (IgG) replacement therapy is often performed for patients with CVID.　We experienced a patient who was hospitalized in our hospital for repeated pneumonia and diagnosed CVID at the age of 10 years. He had often been absent from school due to infectious diseases. We were administered intravenous IgG (IVIG) two times and his serum level of IgG became over 1,000 mg/dL. Afterward, he was affected the hand-foot-and-mouth disease one week after discharge. At that time, his IgG level decreased to 751 mg/dL. To maintain stable IgG trough levels, we introduced subcutaneous IgG (SCIG). Since then, his IgG levels remained around 1,000 mg/dL, he has lived without suffering from infectious diseases.　There are some reports that IVIG and SCIG were compared and SCIG was able to obtain a stable IgG trough levels to prevent infection. In addition, because our patient is a mother and child family, it was difficult to visit the outpatient department frequently, so it was desirable to infuse at home.　We experienced a patient who had a stable trough levels with SCIG and improved quality of life, so we report this case with literature reviews

Sulfamethoxazole / Trimethoprim confer no change on the clinical course of Kawasaki disease

Kawasaki disease (KD) is one of the most common vasculitis in childhood, but its etiology is still unknown. We hypothesized that Sulfamethoxazole / Trimethoprim (S/T) would inhibit overproduction of cytokine due to heat shock protein produced by intestinal bacteria in patients with KD and improve the clinical course of KD indirectly. We have conducted a prospective study to assess the usefulness of S/T for KD. For patients with KD (S/T group, N=23), we use S/T in addition to the standard treatment in the guidelines such as intravenous immunoglobulin (IVIG) and moderate dose aspirin. The control group (non S/T group, N=32) is patients with KD treated with the standard treatment in the guidelines. The baseline characteristics did not demonstrate notable differences between the two groups. We compare duration of fever, rate of initial IVIG failure, the day of illness membranous desquamation appeared, and the occurrence of coronary artery lesion (CAL) between two groups. Membranous desquamation appeared rather earlier in S/T group than in non S/T group (11.4±3.0 day of illness vs 12.9±3.5 day of illness, P=0.078), but there was no statistically significant difference. Duration of fever (39±59 hours vs 42±57 hours, P=0.41), rate of initial IVIG failure (26% vs 31%, P=0.30), and number of CAL (8.6% vs 9.3%, P=0.87) were found no significant difference between two groups. These data indicated that the use of S/T in acute phase of KD didn\u27t improve any clinical course of KD

Long-term survival with RAS-associated autoimmune leukoproliferative disorder with somatic KRAS mutation:A case report

　RAS -associated autoimmune leukoproliferative disorder (RALD) is a recently reported rare nonmalignant autoimmune disorder. The characteristic clinical findings of RALD include monocytosis, leukocytosis, lymphoproliferation, and autoimmune phenomena. RALD is defined by somatic mutations in KRAS or NRAS . It is a new disease that was reported by Niemela and Takagi in 2011. The prognosis and incidence are currently unknown and the treatment strategy has not yet been established.　Here we describe the long-term survival of a patient with who displayed a somatic KRAS G12D mutation. His clinical features and labolatory data were overlapped with juvenile myelomonocytic leukemia and chronic myelomonocytic leukemia. Mercaptopurine hydrate, hydroxycarbamide and azacitizine were administered to control white blood cell count and improve clinical symptoms. He had a long survival time without hematopoietic stem cell transplantation

Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease

Background The genetic architecture of coronary artery disease has not been fully elucidated, especially in Asian countries. Moyamoya disease is a progressive cerebrovascular disease that is reported to be complicated by coronary artery disease. Because most Japanese patients with moyamoya disease carry the p.R4810K variant of the ring finger 213 gene (RNF213), this may also be a risk factor for coronary artery disease; however, this possibility has never been tested. Methods and results We genotyped the RNF213 p.R4810K variant in 956 coronary artery disease patients and 716 controls and tested the association between p.R4810K and coronary artery disease. We also validated the association in an independent population of 311 coronary artery disease patients and 494 controls. In the replication study, the p.R4810K genotypes were imputed from genome-wide genotyping data based on the 1000 Genomes Project. We used multivariate logistic regression analyses to adjust for well-known risk factors such as dyslipidemia and smoking habits. In the primary study population, the frequency of the minor variant allele was significantly higher in patients with coronary artery disease than in controls (2.04% vs. 0.98%), with an odds ratio of 2.11 (p = 0.017). Under a dominant model, after adjustment for risk factors, the association remained significant, with an odds ratio of 2.90 (95% confidence interval: 1.37-6.61; p = 0.005). In the replication study, the association was significant after adjustment for age and sex (odds ratio = 4.99; 95% confidence interval: 1.16-21.53; p = 0.031), although it did not reach statistical significance when further adjusted for risk factors (odds ratio = 3.82; 95% confidence interval: 0.87-16.77; p = 0.076). Conclusions The RNF213 p.R4810K variant appears to be significantly associated with coronary artery disease in the Japanese population

Macrolide-Resistant Mycoplasma pneumoniae Infection, Japan, 2008–2015

We evaluated isolates obtained from children with Mycoplasma pneumoniae infection throughout Japan during 2008–2015. The highest prevalence of macrolide-resistant M. pneumoniae was 81.6% in 2012, followed by 59.3% in 2014 and 43.6% in 2015. The prevalence of macrolide-resistant M. pneumoniae among children in Japan has decreased

Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease

[Background] The genetic architecture of coronary artery disease has not been fully elucidated, especially in Asian countries. Moyamoya disease is a progressive cerebrovascular disease that is reported to be complicated by coronary artery disease. Because most Japanese patients with moyamoya disease carry the p.R4810K variant of the ring finger 213 gene (RNF213), this may also be a risk factor for coronary artery disease; however, this possibility has never been tested. [Methods and results] We genotyped the RNF213 p.R4810K variant in 956 coronary artery disease patients and 716 controls and tested the association between p.R4810K and coronary artery disease. We also validated the association in an independent population of 311 coronary artery disease patients and 494 controls. In the replication study, the p.R4810K genotypes were imputed from genome-wide genotyping data based on the 1000 Genomes Project. We used multivariate logistic regression analyses to adjust for well-known risk factors such as dyslipidemia and smoking habits. In the primary study population, the frequency of the minor variant allele was significantly higher in patients with coronary artery disease than in controls (2.04% vs. 0.98%), with an odds ratio of 2.11 (p = 0.017). Under a dominant model, after adjustment for risk factors, the association remained significant, with an odds ratio of 2.90 (95% confidence interval: 1.37–6.61; p = 0.005). In the replication study, the association was significant after adjustment for age and sex (odds ratio = 4.99; 95% confidence interval: 1.16–21.53; p = 0.031), although it did not reach statistical significance when further adjusted for risk factors (odds ratio = 3.82; 95% confidence interval: 0.87–16.77; p = 0.076). [Conclusions] he RNF213 p.R4810K variant appears to be significantly associated with coronary artery disease in the Japanese population