Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia.

Wiskott-Aldrich syndrome (WAS)/X-linked thrombocytopenia (XLT) is a rare X-linked disease characterized by thrombocytopenia, eczema, and recurrent infection. In addition, WAS/XLT increases incidence of autoimmune diseases and malignancies. We reported 7 male patients, 2 with WAS and 5 with XLT, from 6 different families.

Early life antibiotic exposure and host health: Role of the microbiota-immune interaction.

The neonatal population is at high risk for infections secondary to a unique, developing immune system. While a multitude of factors direct the development of the immune system, the role of environmental exposures on the microbiota may play a critical and potentially modifiable role. Recent evidence suggests that the disruption of the microbiota through the use of antibiotics not only leads to an immediately increased risk for neonatal complications but also long-term health issues related to autoimmune and inflammatory diseases.

PROC Promoter Single Nucleotide Polymorphisms Associated With Low Protein C Activity But Not Increased Risk of Thromboembolism in Pediatric Population.

Protein C (PC) deficiency, caused by mutations of the gene, is a common inherited risk factor of thromboembolism (TE) among Thai people. This study aimed to investigate the association of 3 single nucleotide polymorphisms (SNPs; -1654 C/T, -1641 A/G, -1461A/T) at the promoter region with PC activity and the risk of developing TE. A total of 216 patient s with TE, diagnosed at aged 0 to 20 years, and 102 healthy adults were enrolled.