Abstract
Good Syndrome is an adult-onset combined immunodeficiency defined by hypogammaglobulinemia, low or absent number of B cells, T cell deficiency and thymic tumor. We have characterized CD8+ T cells from a patient with Good syndrome that presented with CD8+T-cell large granular lymphocytic leukemia (LGL). Characterization of peripheral blood CD8+ T cells revealed that majority of CD8+ T cells were terminally differentiated effector memory phenotype (TEMRA; CD8+CCR7-CD45RA+), and were PD-1high (CD279), ICOSlow (CD278), and granzymehigh. Almost all CD8+ T cells were IFN-γ+. CD8 Treg (CD8+CD183+CCR7+CD45RA-) were decreased. TEMRA phenotype along with CD279high, demonstrates that these are exhausted CD8+ T cells. This phenotype along with CD278low may also explain severe T cell functional deficiency in our patient. In the present patient, T-LGL appears to be a clonal expansion of CD279+granzyme+IFN-γ+CD8+TEMRA cells. To best of our knowledge this is the first case of CD8+T-cell LGL leukemia associated with Good syndrome.
Highlights
Good Syndrome is a rare adult-onset primary combined immunodeficiency characterized by hypogammag‐ lobulinemia, reduced or absent B cells, T cell deficiency, and thymoma [1,2,3]
Characterization of peripheral blood CD8+ T cells revealed that majority of CD8+ T cells were terminally differentiated effector memory phenotype (TEMRA; CD8+CCR7-CD45RA+), and were PD-1high (CD279), ICOSlow (CD278), and granzymehigh
Good syndrome is characterized by thymoma and combined T and B cell deficiency with high frequency of opportunistic infections, and frequently with concurrent autoimmune diseases [1,2,3,4,5,6,7,8]
Summary
Good Syndrome is a rare adult-onset primary combined immunodeficiency characterized by hypogammag‐ lobulinemia, reduced or absent B cells, T cell deficiency, and thymoma [1,2,3]. There is an increased susceptibility to frequent infections with bacteria, viruses, fungi, and parasites [4,5,6]. There is an increased incidence of autoimmune diseases in Good syndrome, including red cell aplasia, myasthenia gravis, neutropenia, pemphigus, lichen planus, and inflammatory bowel diseases [6,7,8]. The majority of thymoma are benign; more than 50% are spindle cells type, and approximately 10% of thymoma are malignant. Few cases of monoclonal gammopathy of undetermined significance (MGUS) have been reported in Good syndrome [8, 9]. Malignancy in Good syndrome is exceedingly rare
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