title: Deficient natural killer cell activity in a patient with Fanconi's anaemia and squamous cell carcinoma. Association with defect in interferon release.
abstract: A child with Fanconi's anaemia diagnosed at 7 years of age presented in adult life with lymphopenia, recurrent warts and Bowen's disease. The latter resulted in the development of multiple cutaneous squamous cell carcinomas which metastasized to the skeleton. Investigation of her immune function revealed selective defects in natural killer (NK) cell activity. Humoral immunity and several tests of cell-mediated responses were within normal or became normal after treatment with levamisole or transfer factor. Analysis of the defect in NK activity revealed that low levels could be induced in vitro by fibroblast interferon. Stimulation of blood lymphocytes from the patient with the interferon inducer poly (I)-poly (C) resulted in an increase in NK activity but incubation of her lymphocytes on tumour cells did not result in an increase in NK activity or the release of interferon. This contrasted with the marked increase in NK activity and interferon release observed when lymphocytes from normal controls were incubated on tumor cells. These findings suggested the absence of NK activity in this patient was secondary to a defect in interferon release from lymphocytes on exposure to tumour antigens. It is considered that these defects may have been an important predisposing factor in the development of malignancy in this patient and possibly other patients with Fanconi's anaemia.
mesh_terms: D000328:Adult; D000741:Anemia, Aplastic / Q000276:immunology*; D000920:Antibody-Dependent Cell Cytotoxicity / Q000187:drug effects; D001500:BCG Vaccine / Q000627:therapeutic use; D001859:Bone Neoplasms / Q000556:secondary; D002294:Carcinoma, Squamous Cell / Q000188:drug therapy / Q000276:immunology* / Q000628:therapy; D003602:Cytotoxicity, Immunologic / Q000187:drug effects*; D005199:Fanconi Anemia / Q000276:immunology*; D005260:Female; D006801:Humans; D007372:Interferons / Q000172:deficiency / Q000494:pharmacology / Q000627:therapeutic use; D007978:Levamisole / Q000627:therapeutic use; D008223:Lymphoma / Q000556:secondary; D011070:Poly I-C / Q000494:pharmacology; D014165:Transfer Factor / Q000627:therapeutic use; D002583:Uterine Cervical Neoplasms / Q000276:immunology*
chemical_list: D001500:BCG Vaccine; D014165:Transfer Factor; D007978:Levamisole; D007372:Interferons; D011070:Poly I-C