关键词: 肉芽肿

Abstract:

Objective To detect the mutation of CARD15 gene in a patient with sarcoidosis and tuberculosis. Methods Clinical data were collected from a 32-year-old male patient with early-onset sarcoidosis and tuberculosis. Peripheral blood was obtained from the patient, both of his parents, and 102 healthy controls. All the 12 exons of the coding regions as well as flanking intronic sequences of the CARD15 gene were amplified by PCR followed by direct sequencing. The resulted sequences were blasted against the reference sequences of CARD15 gene. Results Both clinical features and histopathological findings of the patient were consistent with sarcoidosis. Furthermore, the patient presented with flexion contractures of fingers and toes, as well as iridocyclitis. A heterozygous missense recurrent mutation c.1000C > T （p.R334W） was detected in exon 4 of the CARD15 gene in the patient, but not in either of his parents or any of the 102 healthy controls. Conclusions A p.R334W mutation in the CARD15 is identified in the patient, which may be responsible for the clinical phenotype of early-onset sarcoidosis. Gene analysis may be a useful method to clarify the etiology of early-onset sarcoidosis.

Key words: Granulomatosis