Immune Deficiency and Nonspecific Chronic Lymphadenitis of Twenty Years' Duration Terminating in Non-Hodgkin's Lymphoma with a 14q+ Karyotype and T cell Markers

Abstract

A 21 year-old woman was autopsied because of gradually progressive immune deficiency and generalized lymphadenopathy that started shortly after birth and eventually terminated in non-Hodgkin's lymphoma with threatening stenosis of the respiratory tract. Lymphnode biopsies up to the age of 14 revealed nonspecific chronic lymphadenitis. However, on the latest admission at the age of 21, the right inguinal lymphnode biopsy was diagnosed as non-Hodgkin's lymphoma, diffuse mixed type (Classification of the Lymphoma Study Group, Japan) with the dominant lymphocyte markers of OKT3 and OKT8. The clonal karyotypic abnormality of 14q⁺ was detected in the lymphnode lymphocytes that responded to pokeweed mitogen. Recurrent infections during childhood responded well to antibiotic therapies, but cellular immunity apparently started to be defective at the age of 12, and humoral immunity at the age of 21. Hence, with other immunological findings, the patient was diagnosed as common variable immunodeficiency. She received VP therapy (combination of vindesin with prednisolone), got into remission, fell into relapse two months later, and died of pneumonia.
Such an immune deficiency with a life-long follow up of gradually progressing severity is a rare case. The identification of the clonal karyotypic abnormality of 14q⁺ in a primary immune deficiency other than ataxia telangiectasia has been also rarely reported.