RASGRP1 is a guanine-nucleotide-exchange factor that is involved in lymphocyte development and function. RASGRP1 deficiency was first described as a severe immunodeficiency in 2016. It is characterized by lymphopenia, recurrent infections, autoimmune features, hepatosplenomegaly, lymphadenopathy, EBV-associated lymphoproliferation and B cell lymphoma. Here, we report a patient with RASGRP1 deficiency developing Hodgkin’s Lymphoma following immune cytopenias.
Case: 8 year-old-boy referred with suspicion of primary immunodeficiency. He was born to consanguineous parents. He had hospitalized due to fever, immune thrombocytopenia and autoimmune hemolytic anemia at 4 years. He treated with glucocorticoids and IVIG. Then he had recurrent fever, otitis media and tonsilitis that require intravenous antibiotic treatments. At 8 years he developed Hodgkin’s Lymphoma. Lymphopenia, positive EBV serology. elevated TCR γδ T cells and decreased follicular T helper cells were detected in the laboratory assessment. Genetic analysis revealed a homozygous homozygous mutation in RASGRP1 gene.
He successfully completed chemotherapy and radiotherapy regimens. He had a sister and we are waiting her genetic results. They are HLA matched siblings.
RASGRP1 deficiency is an immune dysregulation disorder that should be considered in patients with EBV-related lymphoproliferation or malignancy as well as patients with recurrent infections, autoimmune cytopenias and other aoutoimmune diseases. Early diagnosis is important and HSCT can be a curative treatment for patients with RASGRP1 deficiency.