Severe Acute Cellular Rejection With High-Grade Lymphocytic Bronchiolitis Following Transition from Tacrolimus to Belatacept in a Lung Transplantation Recipient: A Case Report.

This case report describes a lung transplantation recipient who developed severe acute cellular rejection with high-grade lymphocytic bronchiolitis after transition to a calcineurin-free regimen using belatacept. A 53-year-old man who had undergone lung transplantation 3 years prior developed progressive chronic kidney disease related to tacrolimus. He was transitioned off tacrolimus to belatacept to prevent the need for dialysis.

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disability, and seizures. Trio-based whole-exome sequencing and targeted re-sequencing identified recessive mutations of CRADD in six individuals with TLIS from four unrelated families of diverse ethnic backgrounds.

Genetic mapping and exome sequencing identify variants associated with five novel diseases.

The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children. Among the Plain people, we have used single nucleotide polymorphism (SNP) microarrays to genetically map recessive disorders to large autozygous haplotype blocks (mean = 4.4 Mb) that contain many genes (mean = 79).