Article
A novel homozygous mutation in RASGRP1 that predisposes to immune dysregulation and immunodeficiency associated with uncontrolled Epstein-Barr virus-induced B cell proliferation.
Clinical immunology (Orlando, Fla.) - 1 Dec 2023
Mansour Rana, El-Orfali Youmna, Saidu Adam, Al-Kalamouni Habib, Mardirossian Hagop, Hanna-Wakim Rima, Abboud Miguel, Massaad Michel J
Abstract excerpt
BACKGROUND: RASGRP1-deficiency results in an immune dysregulation and immunodeficiency that manifest as autoimmunity, lymphoproliferation, lymphopenia, defective T cell function, and increased incidence of Epstein-Bar Virus infections and lymphomas. OBJECTIVE: To investigate the mechanism of autoimmune hemolytic anemia and infections in a male patient of consanguineous parents from Lebanon. METHODS: Genetic...
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