Introduction: Congenital fibrinogen disorders are a heterogenous group of fibrinogen defects.
Case Presentation: Here, we describe hypodysfibrinogenemia in a 33-year-old female patient with provoked recurrent deep vein thrombosis (DVT) diagnosed based on decreased functional and antigenic fibrinogen levels with a decreased functional/antigenic fibrinogen ratio. Definitive diagnosis of congenital hypodysfibrinogenemia is done by genotyping using whole-exome sequencing, which identified the γ326Cys→Tyr mutation combined with single-nucleotide polymorphisms: rs2070011 and rs2070018 in FGA and rs1049636 in FGG.
This study aims to determine the prevalence and clinical significance of anti-CCP isotype IgA in a population of patients with primary Sjögren's syndrome (pSS). Sixty-two patients diagnosed according to the USA-European classification criteria for pSS were examined two to four times during a 60.4-month follow-up, and clinical and laboratory data were registered prospectively.
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