RT Journal Article SR Electronic(1) A1 Eren Akarcan, Sanem A1 Edeer Karaca, Neslihan A1 Aksu, Guzide A1 Aykut, Ayca A1 Yilmaz Karapinar, Deniz A1 Cetin, Funda A1 Aydinok, Yesim A1 Azarsiz, Elif A1 Gambineri, Eleonora A1 Cogulu, Ozgur A1 Ulusoy Severcan, Ezgi A1 Alper, Hudaver A1 Kutukculer, NecilYR 2018 T1 Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome JF JMM Case Reports, VO 5 IS 10 OP SP e005167 DO https://doi.org/10.1099/jmmcr.0.005167 PB Microbiology Society, SN 2053-3721, AB 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., UL https://www.microbiologyresearch.org/content/journal/jmmcr/10.1099/jmmcr.0.005167