Aleksandra Szczawinska-Poplonyk Rafal Ploski Ewa Bernatowska Malgorzata Pac
10.3389/fimmu.2020.00318
Front Immunol
2020 Mar 13;11:318.
cdc42 gene mutation hemophagocitic lymphohistiocytosis immunodeficiency malignancy
CC BY
https://pubmed.ncbi.nlm.nih.gov/32231661/
Immunologic Deficiency Syndromes / etiology Inflammation / etiology Lymphohistiocytosis, Hemophagocytic / etiology Mutation Neoplasms / etiology cdc42 GTP-Binding Protein / genetics
Immunologic Deficiency Syndromes / etiology Inflammation / etiology Lymphohistiocytosis, Hemophagocytic / etiology Mutation Neoplasms / etiology cdc42 GTP-Binding Protein / genetics Case Reports Child Humans Immunologic Deficiency Syndromes / genetics Lymphohistiocytosis, Hemophagocytic / genetics Male cdc42 GTP-Binding Protein / physiology CDC42 protein, human cdc42 GTP-Binding Protein
PMC7082228
32231661
A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report
2020