Diagnosis of HLH: two siblings, two distinct genetic causes. (30th November 2021)

• Record Type: Journal Article
• Authors: Escaron, Claire; Ralph, Elizabeth; Bibi, Shahnaz; Visser, Johannes; Aricò, Maurizio; Rao, Kanchan; Veys, Paul; Gilmour, Kimberly
• Is Part Of: Clinical and experimental immunology. Volume 207:Number 2(2022)
• Page Start: 205
• Page End: 207
• Publication Date: 2021-11-30
• Subjects: haemophagocytic lymphohystiocytosis -- X-linked lymphoproliferative syndrome -- primary immunodeficiency -- molecular diagnostics -- genetic pedigree; Immunopathology -- Periodicals; 616.079
• DOI: 10.1093/cei/uxab019
• Languages: English
• ISSNs: 0009-9104

Abstract

Abstract: This report highlights case of two siblings who developed haemophagocytic lymphohystiocytosis due to distinct genetic abnormalities. Though their presentation was clinically similar, the cases demonstrate that a shared genetic diagnosis among siblings cannot be assumed. Abstract : This report highlights case of two siblings who developed haemophagocytic lymphohystiocytosis (HLH) due to distinct genetic abnormalities, in this case an X-linked condition (XLP1), and an autosomal recessive condition (FHL5). The cases demonstrate that suspicion of a primary immune deficiency (PID) must be investigated rapidly, and though their presentation was clinically similar, a shared genetic diagnosis among siblings cannot be assumed. Graphical Abstract: