Biomedical subjects
Publications and source records attributed to I Ambró.
A 4-year-old boy with skin symptoms resembling verruca plana juvenile was observed. The light- and electron-microscopic picture showed the typical features of histiocytosis X (Letterer-Siwe syndrome). Beside the skin manifestations some less dense areas in the skull bones were found by X-ray examination. Vinblastine and prednisolone treatment for one year resulted in complete remission.
A group of 67 juvenile insulin dependent diabetic patients and their 167 healthy first degree blood relatives were HLA-typed. In the patients the frequency of HLA-A9 and B8 antigens was significantly increased as compared to healthy controls, while in the family members only the presence of HLA-B8 was significantly increased. All diabetics carrying HLA-B8 antigen had frequently higher 125I-insulin-antibody complex levels than those lacking the antigen. Prevalence of some autoantibodies to human thyroglobulin, microsomal thyroid and antigastric mucosa antigen were investigated and compared to healthy controls. Increased antibody titres were more frequent in diabetics and their blood relatives than in the healthy controls, and more frequent in those carrying the HLA-B8 antigen than in those lacking it.
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An analysis of HLA-linked genetical factors conferring susceptibility to IDDM is reported. On the basis of population and family studies a recessive mode of inheritance of disease susceptibility provided by an assumption of HLA-B8-linked DS gene was observed. The characteristic component of the immunogenetical background was the high frequency of HLA-B8 (0.208) and the HLA-A1, B8 haplotype (0.134) (linkage disequilibrium D = 0.1031), reminiscent of that found also in other disorders with autoimmune features, such as Graves disease, SLE, etc. Considering the HLA-B8 and IDDM association, the DS gene frequency (pD = 0.25) was estimated and the gametic association between HLA-B8 andu DS gene was calculated. The low value of penetrancy (4.8%) revealed the important role of non-HLA-linked genetical and environmental factors. The HLA-linked genetic factors in question might be responsible for an inclination to several kinds of autoimmune disorders.