Thus, fHLH gene mutations in cytolytic pathway genes that disrupt or delay cytolysis, likely directly contribute to HLH pathology even in individuals with complete or partial dominant-negative …

This Rab27A p.A87P mutation was identified in two unrelated patients who developed sHLH later in life during their teenage years. Both patients responded well to immunosuppression with CS …

Familial HLH (FHLH) and related immune dysregulation syndromes are associated with mutations in the genes PRF1, UNC13D, STX11, STXBP2, LYST, AP3B1, and RAB27A, all of which are …

Aug 21, 2014 · The authors separated single-allele mutations into genes involved in degranulation (MUNC13-4, STXBP2, STX11, and Rab27a) and single-allele mutations in PRF1. …

Jul 5, 2018 · Stratified disease-associated variants were confirmed by Sanger sequencing. Variants in common fHLH genes (PRF1, STX11, STXBP2, and UNC13D plus LYST and …

Mar 22, 2006 · Familial HLH usually presents as an acute illness with prolonged and high fever, cytopenias, and hepatosplenomegaly. Rash and lymphadenopathy are less common. …

Jan 1, 2005 · Genetic HLH occurs in familial forms (FHLH), in which HLH is the primary and only manifestation, and in association with the immune deficiencies Chédiak-Higashi syndrome …

We present two cases of atypical GS2 (below and in supplement) characterized by systemic granulomatosis, neuroinflammation and normal skin and hair pigment, secondary to a …

To date, studies have attempted to identify whether variants in HPF and familial HLH (fHLH) genes contribute to the pathophysiology of sJIA; however, they lacked sufficient statistical …

Aug 8, 2014 · The authors separated single-allele mutations into genes involved in degranulation (MUNC13-4, STXBP2, STX11, and Rab27a) and single-allele mutations in PRF1. …