Clinical and genetic analysis of 10 patients with lymphocytosis-associated immunodeficiency disease
Abstract：Objective To investigate the clinical and genetic features of patients with lymphocytosis-associated immunodeficiency disease.Methods Clinical manifestations,immunological and genetic examinations,treatment and prognosis of patients with lymphocytosis-associated immunodeficiency disease were analyzed retrospectively.Results A total of 10 patients were included,whose median onset age was 3-year-8-month.All patients manifested as hepatosplenomegaly or lymphadenopathy.Seven of them had reduction of peripheral blood cell.Five patients had EBV viremia or infection.One patient suffered from recurrent respiratory tract infection with bronchiectasis.IgG levels (9.14-53.27 g/L) and B cell proportion (10.6％-78.8％) in all patients were normal or significantly increasing.Genetic analysis of all patients showed PIK3CD,FASL,NRAS,KRAS,Caspase10 or XIAP gene mutations.All patients received individudized treatment,and visited the Outpatient Department of Immunology regularly.Conclusion Lymphocytosis-associated immunodeficiency disease often manifests as unexplained hepatosplenomegaly or lymphadenopathy,accompanied by reduction of peripheral blood cells,EBV viremia or infection.Early genetic examination will help to improve the diagnosis of the disease and make individualized treatment for each patient.
Keywords：immunodeficiency diseaselymphocytosishepatosplenomegalyEB virus
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 764-767 )