Resumo

BORRERO TABLADA, Caridad de las Mercedes  e  MASO ZAMORA, Marlin Estela. Kabuki syndrome and selective IgA deficiency: presentation of a case. Multimed [online]. 2019, vol.23, n.4, pp.823-834. ISSN 1028-4818.

The presentation of a clinical case of a patient with the Kabuki Syndrome, submitted to the Immunology clinic of the Teaching General Hospital "General Luis Milanés", of Bayamo, Granma, was presented eczematous lesions in all the moist regions of the skin of the body and atopic dermatitis in the upper and lower extremities that, despite the different treatments, recurred frequently, together with the history of frequent episodes of allergic rhinitis, otitis, pharyngotonsillitis and colds during early childhood. Taking into account the symptoms, serological studies (immunoglobulin quantification, differential blood count and total eosinophil count) were performed to evaluate the immunity, obtaining a primary immunodeficiency (Selective IgA Deficit) eosinophilia and hyperimmunoglobulinemia E. These results provide the scientific community with data that help to characterize Kabuki Syndrome in the immunity field since the serum behavior has been described very little, besides confirming that the multiple infectious processes that appear can be conditioned by immunodeficencies of type primary (because the pathogenesis of both, although it is not very clear has been raised that appears at the level of the chromosomes), increasing its susceptibility. The above indicates the importance of this work, it also allows to offer the relatives of the patients already they themselves better orientation, treatment, prognosis and quality of life.

Palavras-chave : Kabuki; Niikawa and Kuroki syndrome.

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