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We herein report five new cases of severe combined immunodeficiency with hypereosinophilia, the so-called familial reticuloendotheliosis first described by Omenn. It is characterized by erythroderma, polyadenopathy, hepatosplenomegaly, severe and repeated infections, protracted diarrhoea with failure to thrive. There is marked eosinophilia as well as a profound immunodeficiency. The immunologic abnormalities consist of an increase in T cell number, a B cell lymphopenia and a complete lack of humoral and cellular immune responses to antigens. A deficiency of lymphocytes 5'-nucleotidase has been inconstantly found. Histologic findings are characteristic, consisting of severe T and B lymphocyte depletion in lymphoid organs with infiltration by histiocytes and, to a lesser extent, eosinophils. The outcome was uniformly fatal within the first year of life. Treatment by a combination of parenteral nutrition, steroids and epipodophyllotoxin was effective in obtaining the complete remission of clinical manifestations due to the histiocytic and eosinophilic infiltration in two patients. However, the treatment failed to correct the immunologic defect. These results indicate that the histiocytic infiltration is possibly not responsible for the immunologic detect observed in this condition.

This syndrome is characterized by a hyper-triglyceridemia associated with a deficiency of the plasma lipolytic activity induced by heparin infusion. All signes ascribed to familial lymphohistocytosis were found in this patient. When a diagnosis of acute reticulosis in children is made, such biological characteristics should be searched for. Since in systemic lupus erythematosus an acquired and analogous type of hyperlipidemia has been described, the hypothesis of an immunological pathogenesis in familial lymphohistiocytosis may be plausible.

Two brothers presented with hemophagocytic reticulosis with neonatal onset. Early clinical and biological symptoms included pallor, hepatosplenomegaly and anemia, thrombocytopenia. Evolution was lethal in both cases, at 5 months and 13 days of age, respectively. Diagnosis was confirmed in both by the pathologic findings: diffuse lymphohistiocytic cellular proliferation with hemophagocytosis and atrophy of the lymphoid tissue. The diagnostic difficulties of this disease in the neonatal period are emphasized.

We report 8 cases of familial lymphohistiocytosis collected in 6 families. Several data argue for an hyperactivation of the reticuloendothelial system (RES). An abnormal visualization of all organs was observed in a scintigraphic study after 99technetium labelled red blood cells injection. Blood monocytes contained very low peroxidase activity as detected by cytoenzymology and secreted large quantities of prostaglandin E2 (PGE2). Adherent cells isolated from blood exercised a strong suppressor effect on the proliferation of normal lymphocytes induced by phytohemaglutinin. This effect was reduced by indomethacin and therefore appears PGE2-dependent. One patient's serum exerced an inhibitory activity on antigen-induced proliferation of normal lymphocytes and on mixed leucocyte reaction. In contrast, cellular and humoral functions were not deeply impaired. The hyperactivation of the RES remains unexplained and not related to a graft versus host reaction, which could be excluded in 3 of our patients. Therapeutic attempts were not efficient, all patients dying despite steroid, vincaleucoblastin and indomethacin therapy.