Basic evaluation of the immunocompetence of Brazilian patients with Kabuki syndrome

Kabuki syndrome is a genetic disorder of unknown etiology associated with characteristic features (long palpebral fissures, everted lower lids, and arched eyebrows), mental retardation, congenital malformations and increased susceptibility to infections, cancer and autoimmune diseases. However, few studies concerning the immunological aspects of the disease have been performed, and no clear cause of immunodeficiency has been established. Methods: Basic immunological evaluation of nine Brazilian children and adolescents with Kabuki syndrome was performed. Results: Clinical findings include recurrent respiratory infections (mainly otitis media and pneumonia) in 8 patients and allergic respiratory and/ or cutaneous diseases in 5 children. Laboratory findings include selective IgA deficiency, mildly decreased total IgG levels, decreased IgG2 and lack of an adequate response to delayed skin hypersensitivity testing. All of the patients seroconverted after vaccination with heptavalent conjugate pneumococcal vaccine. In two children, clinical and cytogenetic diagnosis of Turner syndrome was also established, while one of them also presented selective IgA deficiency. Conclusion: Due to these findings, we believe that further research is needed for a better understanding of the underlying causes of immunodeficiency in Kabuki syndrome... A sindrome de Kabuki e uma condicao genetica de etiologia desconhecida caracterizada por retardo mental, baixa estatura, malformacoes congenitas, fascies caracteristico (fissuras palpebrais longas, eversao das palpebras inferiores e supercilios arqueados) e uma susceptibilidade aumentada a infeccoes, doencas autoimunes e neoplasias. No entanto, ha poucos estudos disponiveis sobre os aspectos imunologicos desta sindrome e ate o momento nao se estabeleceu causa para essa imunodeficiencia. Metodo: Foi realizada uma avaliacao imunologica basica de nove criancas e adolescentes brasileiros com sindrome de Kabuki. Resultados: Os achados clinicos incluiram infeccoes respiratorias recorrentes (principalmente otite media e pneumonia) em 8 dos pacientes e atopia (dermatite, rinite ou asma) em 5 criancas. Dentre os achados laboratoriais, pode-se citar deficiencia seletiva de IgA, niveis reduzidos de IgG, reducao de IgG2 e ausencia de resposta aos testes cutâneos de hipersensibilidade tardia. Todos os pacientes soroconverteram apos imunizacao com vacina pneumococica conjugada heptavalente. Dois dos pacientes tiveram ainda o diagnostico clinico e citogenetico de sindrome de Turner, sendo que um deles tambem apresentava deficiencia seletiva de IgA. Conclusao: Devido a estes achados, acreditamos que mais estudos devem ser realizados para que se tenha uma melhor compreensao das causas de imunodeficiencia na sindrome de Kabuki...