Síndrome de Roberts asociado con inmunodeficiencia

roberts syndrome is an extremely rare genetic disease of autosomal recessive. it is clinically characterized by pre and postnatal growth delaying, severe limb shortening, radial defects, oligodactyly, and craniofacial anomalies caused by mutation in the esco2 gene. this mutation encodes an acetyltransferase involved in regulating cohesion of sister chromatids. to our knowledge, no deficit of the immunological system has been described in this syndrome. we present here, a case of a one year and a half boy, with roberts syndrome, recurrent infectious processes, some of them severe, since his first year of life. immunological studies showed decreased levels of iga, decreased number of cd3 positive t lymphocytes and decreased cd4 positive; they also showed cells with normal b quantification and opsonophagocytic function impairment. a combined immunodeficiency associated with defective phagocytosis was diagnosed. identifying an immunodeficiency associated with this genetic syndrome suggests that it corresponds to a genetically heterogeneous disease. this also shows the usefulness of the immunological assessment in patients with genetic defects and recurrent infections.