Ontology highlight
ABSTRACT:
SUBMITTER: Somekh I
PROVIDER: S-EPMC6839947 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Blood 20191001 18
Dysregulated immune responses are essential underlying causes of a plethora of pathologies including cancer, autoimmunity, and immunodeficiency. We here investigated 4 patients from unrelated families presenting with immunodeficiency, autoimmunity, and malignancy. We identified 4 distinct homozygous mutations in TNFRSF9 encoding the tumor necrosis factor receptor superfamily member CD137/4-1BB, leading to reduced, or loss of, protein expression. Lymphocytic responses crucial for immune surveilla ...[more]