ABSTRACT
The discovery of patients with recurrent acute liver failure (RALF) and biallelic mutations in neuroblastoma amplified sequence (NBAS) linked NBAS to hepatic disease, and the corresponding phenotype was named “Infantile Liver Failure Syndrome 2”. All examined patients had reduced protein levels of NBAS in protein extracts from fibroblasts, justifying the term NBAS deficiency. Mutations in NBAS cause a phenotypic disease spectrum with wide clinical variability, from isolated RALF to a multisystemic disease affecting liver, growth, bones, connective tissue, immune system, eye, and possibly brain. Transmission of the disease is autosomal-recessive. The protein NBAS is part of a soluble N-ethylmaleimide-sensitive factor attachment protein receptor complex, the syntaxin 18 complex. There is no established treatment for NBAS deficiency. Early and effective antipyretic therapy may even prevent liver crises. In patients with hypogammaglobulinemia, immunoglobulin replacement should be considered. This can reduce frequency of infections, hereby avoiding triggers of liver crises.
