Laura Viñas-Giménez Rafael Rincón Roger Colobran Xavier de la Cruz Verónica Paola Celis José Luis Dapena Laia Alsina Joan Sayós Mónica Martínez-Gallo
10.3389/fimmu.2021.723836
Front Immunol
2021 Sep 23;12:723836.
hlh langerhans-cell-histiocytosis nk stx11 stxbp2 degranulation familial hemophagocytic lymphohistiocytosis−5 (f-hlh) lytic granule exocytosis
CC BY
https://pubmed.ncbi.nlm.nih.gov/34630398/
Histiocytosis, Langerhans-Cell / diagnosis Histiocytosis, Langerhans-Cell / genetics Lymphohistiocytosis, Hemophagocytic / diagnosis Lymphohistiocytosis, Hemophagocytic / genetics Munc18 Proteins / genetics
Histiocytosis, Langerhans-Cell / diagnosis Histiocytosis, Langerhans-Cell / genetics Lymphohistiocytosis, Hemophagocytic / diagnosis Lymphohistiocytosis, Hemophagocytic / genetics Munc18 Proteins / genetics Case Reports Research Support, Non-U.S. Gov't Cytotoxicity, Immunologic Genetic Predisposition to Disease Histiocytosis, Langerhans-Cell / complications Humans Infant Lymphohistiocytosis, Hemophagocytic / complications Male Mutation Munc18 Proteins STXBP2 protein, human
PMC8496341
34630398
Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis
2021