article_metadata: Lin-Yan Hu Lin Wan Qiu-Hong Wang Xiu-Yu Shi Yan Meng Xiao-Fan Yang Guang Yang Li-Ping Zou
article_metadata: 10.3389/fimmu.2023.1306338
article_metadata: Front Immunol
article_metadata: 2023 Dec 11:14:1306338.
article_metadata: chronic inflammatory demyelinating polyradiculoneuropathy demyelination of the central nervous system familial hemophagocytic lymphohistiocytosis perforin perforinopathy
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38149249/
article_metadata: Lymphohistiocytosis, Hemophagocytic / diagnosis Lymphohistiocytosis, Hemophagocytic / genetics Lymphohistiocytosis, Hemophagocytic / therapy Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / diagnosis Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / genetics
article_metadata: Lymphohistiocytosis, Hemophagocytic / diagnosis Lymphohistiocytosis, Hemophagocytic / genetics Lymphohistiocytosis, Hemophagocytic / therapy Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / diagnosis Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / genetics Case Reports Research Support, Non-U.S. Gov't Child Female Humans Mutation, Missense Perforin / genetics Phenotype Perforin PRF1 protein, human
article_metadata: PMC10750348
article_metadata: 38149249
article_metadata: Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation
article_metadata: 2023