article_metadata: Laura Viñas-Giménez Rafael Rincón Roger Colobran Xavier de la Cruz Verónica Paola Celis José Luis Dapena Laia Alsina Joan Sayós Mónica Martínez-Gallo
article_metadata: 10.3389/fimmu.2021.723836
article_metadata: Front Immunol
article_metadata: 2021 Sep 23;12:723836.
article_metadata: hlh langerhans-cell-histiocytosis nk stx11 stxbp2 degranulation familial hemophagocytic lymphohistiocytosis−5 (f-hlh) lytic granule exocytosis
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/34630398/
article_metadata: Histiocytosis, Langerhans-Cell / diagnosis Histiocytosis, Langerhans-Cell / genetics Lymphohistiocytosis, Hemophagocytic / diagnosis Lymphohistiocytosis, Hemophagocytic / genetics Munc18 Proteins / genetics
article_metadata: 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
article_metadata: PMC8496341
article_metadata: 34630398
article_metadata: Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis
article_metadata: 2021