Background Whole genome sequencing is increasingly being used for the diagnosis of
patients with rare diseases. However, the diagnostic yields of many studies, particularly …

The classical pathway of the complement cascade has been recognized as a key activation
arm, partnering with the lectin activation arm and the alternative pathway to cleave C3 and …

Abstract Minichromosome maintenance protein 10 (MCM10) is essential for eukaryotic DNA
replication. Here, we describe compound heterozygous MCM10 variants in patients with …

Exploring the functional effect of a non-synonymous coding variant at the protein level
requires multiple pieces of information to be interpreted appropriately. This is particularly …

Extreme disease phenotypes can provide key insights into the pathophysiology of common
conditions, but studying such cases is challenging due to their rarity and the limited …

Complement factor I (FI) is the nexus for classical, lectin and alternative pathway
complement regulation. FI is an 88kDa plasma protein that circulates in an inactive …

Objective To raise awareness of complement factor I (CFI) deficiency as a potentially
treatable cause of severe cerebral inflammation. Methods Case report with neuroradiology …

Objectives Complement factor I (CFI) deficiency is a rare autosomal recessive inborn error of
immunity. In this report, we highlight that complete CFI deficiency may present with isolated …

II CFI mutations result in normal FI protein expression but impaired FI function. Regardless of
the type of mutation, CFI deficiency will be either partial (residual FI function) in …

Background: A previous study showed that investigation of children with invasive
pneumococcal disease (IPD) revealed an immunodeficiency in up to 10% of cases …