Immune checkpoint inhibitors (ICIs) are monoclonal antibodies that target down-regulators
of the anti-cancer immune response: Cytotoxic T-lymphocyte antigen-4, programmed cell …

Acute liver failure (ALF) is a rare but potentially fatal disease in children. The etiology is
multifactorial, including infection, autoimmune, and genetic disorders, as well as …

Results: In total, 260 indeterminate PALF patients from 19 countries were recruited between
2011 and 2022, of whom 59 had recurrent PALF. WES established a genetic diagnosis in …

Purpose Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an
autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system …

Pediatric acute liver failure (ALF) is life threatening with genetic, immunologic, and
environmental etiologies. Approximately half of all cases remain unexplained. Recurrent …

Acute liver failure (ALF) in childhood is a life-threatening emergency. ALF is often caused by
drug toxicity, autoimmune hepatitis, inherited metabolic diseases, and infections. However …

Objective To use next generation sequencing (NGS) technology to identify undiagnosed,
monogenic diseases in a cohort of children who suffered from acute liver failure (ALF) …

This is the first case of NBAS disease detected by NBS for primary immunodeficiency. NBS
with KRECs is revealing unknown potentialities detecting conditions that benefit from early …

Biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene have been
reported to cause two different clinical spectra: short stature with optic nerve atrophy and …

Abstract Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal
recessive syndrome, comprising facial and skeletal abnormalities, short stature and …