Research Article: Impaired B-cell function in ERCC2 deficiency
Abstract:
Background: Trichothiodystrophy-1 (TTD1) is an autosomal-recessive disease and caused by mutations in ERCC2, a gene coding for a subunit of the TFIIH transcription and nucleotide-excision repair (NER) factor. In almost half of these patients infectious susceptibility has been reported but the underlying molecular mechanism leading to immunodeficiency is largely unknown.
Introduction:
Objective: The aim of this study was to perform extended molecular and immunological phenotyping in patients suffering from TTD1.
Read more