Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects

In conclusion, TRNT1 mutations may lead to multiple immune abnormality especially humoral and cytotoxicity defects, which indicate that SIFD is not only suffered ‘Predominantly antibody deficiencies’ in IUIS classification system, and further studies are needed to understand the pathogenesis of immunodeficiency in these patients.
Source: Genes and Diseases - Category: Genetics & Stem Cells Source Type: research