LRBA deficiency due homozygous nonsense mutations. It is a rare research hub

A single patient trial with Ataluren in one case of severe common variable immunodeficiency with autoimmunity due to homozygous stop codon mutations of LRBA

This study looks at a medicine called Translarna for a rare immune system problem called LRBA deficiency. It's for adults, specifically men, with severe forms of this condition, aiming to see if it improves their health over five years.