Article
L-plastin associated syndrome of immune deficiency and hematologic cytopenia.
The Journal of allergy and clinical immunology - 1 Sept 2024
Hernandez Raquel A, Hearn James I, Bhoopalan Vijay, Hamzeh Abdul Rezzak, Kwong Kristy, Diamand Koula, Davies Ainsley, Li Fei-Ju, Padmanabhan Harish, Milne Rachel, Ballard Fiona, Spensberger Dominik, Gardiner Elizabeth E, Miraghazadeh Bahar, Enders Anselm, Cook Matthew C
Abstract excerpt
BACKGROUND: LCP1 encodes L-plastin, an actin-bundling protein primarily expressed in hematopoietic cells. In mouse and fish models, LCP1 deficiency has been shown to result in hematologic and immune defects. OBJECTIVE: This study aimed to determine the nature of a human inborn error of immunity resulting from a novel genetic variant of LCP1. METHODS: We performed genetic, protein, and cellular analysis of PBMCs...
Topics
- Humans
- Animals
- Mice
- Male
- Female
- Microfilament Proteins
- Thrombocytopenia
- Immunologic Deficiency Syndromes
- Lymphopenia
- Jurkat Cells