Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome Eren Akarcan, Sanem and Edeer Karaca, Neslihan and Aksu, Guzide and Aykut, Ayca and Yilmaz Karapinar, Deniz and Cetin, Funda and Aydinok, Yesim and Azarsiz, Elif and Gambineri, Eleonora and Cogulu, Ozgur and Ulusoy Severcan, Ezgi and Alper, Hudaver and Kutukculer, Necil,, 5, e005167 (2018), doi = https://doi.org/10.1099/jmmcr.0.005167, publicationName = Microbiology Society, issn = , abstract= Introduction. LPS-responsive beige-like anchor (LRBA) protein deficiency is a disease of immune dysregulation with autoimmunity affecting various systems. Case Presentation. Two male siblings with a novel LRBA mutation had different primary findings at admission: the younger sibling had chronic early-onset diarrhoea and the elder one had autoimmune haemolytic anaemia. During long-term follow-up for IPEX phenotype, both developed hypogammaglobulinaemia, enteropathy and lung involvement. The patients partially responded to immunosuppressive therapies. A homozygous c.2496C>A, p.Cys832Ter (p.C832*) mutation in the LRBA gene causing a premature stop codon was detected. After molecular diagnosis, abatacept, as a target-specific molecule, was used with promising results. Conclusion. LRBA deficiency is a recently defined defect, with variable presentations in different patients; a single, definitive treatment option is thus not yet available., language=, type=