Abstract

MARSAN SUAREZ, Vianed et al. Primary combined immunodeficiency associated with Conradi-Hunermann-Happle's syndrome. Rev Cubana Hematol Inmunol Hemoter [online]. 2006, vol.22, n.1, pp. 0-0. ISSN 1561-2996.

The case of a white 3-year-old girl with history of recurrent and severe infections since she was 3 months old, originated by virus, bacteria, fungi, protozoa and helminths, is reported. These infections presented multiple localization with a poor response to habitual treatments and the appearance of complications accompanied with allergic manifestations. The immunological study revealed a marked reduction of the number of CD3+ T cells (22 %), mainly at the expense of the subpopulation of CD4+ T cells (10 %) with a mild decrease of the lymphocytic subpopulation of CD8+ T cells (13 %). Diminished concentrations of immunoglobulins IgM (0,10g/L) and IgG (2g/L), and normal levels of IgA were observed. Deficiencies were not found either in the phagocytic cells, or in the complement system. The diagnosis of this primary combined immunodeficiency is associated with Conradi-Hunermann-Happle's syndrome, or chondroplasia punctata. Various cycles of intramuscular gammaglobulin and of transference factor (Hebertrans) were administered during the treatment with an evident clinical improvement. These results show the heterogenous nature of the appearance and expression of primary immunodeficiencies

Keywords : Primary combined immunodeficiency; Conradi-Hunermann-Happle's syndrome; chondrodysplasia punctata.