• Publications
  • Influence
Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome.
The factor H-related protein family (CFHR) is a group of minor plasma proteins genetically and structurally related to complement factor H (fH). Notably, deficiency of CFHR1/CFHR3 associates withExpand
  • 174
  • 18
The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity.
Mutations and polymorphisms in the gene encoding factor H (CFH) have been associated with atypical haemolytic uraemic syndrome, dense deposit disease and age-related macular degeneration. TheExpand
  • 123
  • 10
  • PDF
The human gene damage index as a gene-level approach to prioritizing exome variants
Significance The protein-coding exome of a patient with a monogenic disease contains about 20,000 variations, of which only one or two are disease causing. When attempting to select disease-causingExpand
  • 139
  • 10
  • PDF
Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
A surprising immune twist for RORC The immune system needs its full array of soldiers—including cells and the molecules they secrete—to optimally protect the host. When this isn't the case, minorExpand
  • 235
  • 9
  • PDF
The mutation significance cutoff: gene-level thresholds for variant predictions
Next-generation sequencing (NGS) has made it possible to identify about 20,000 variants in the protein-coding exome of each individual, of which only a few are likely to underlie a genetic disease.Expand
  • 138
  • 9
  • PDF
Unique structure of iC3b resolved at a resolution of 24 Å by 3D-electron microscopy
Activation of C3, deposition of C3b on the target surface, and subsequent amplification by formation of a C3-cleaving enzyme (C3-convertase; C3bBb) triggers the effector functions of complement thatExpand
  • 46
  • 7
Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk
Common polymorphisms in complement alternative pathway (AP) proteins C3 (C3R102G), factor B (fBR32Q), and factor H (fHV62I) are associated with age-related macular degeneration (AMD) and otherExpand
  • 182
  • 5
  • PDF
Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant
Homozygosity for the P1104A missense variant of the TYK2 Janus kinase is common monogenic etiology of primary tuberculosis. Faulty kinase purged by Koch’s bacillus Rare mutations in genes involved inExpand
  • 57
  • 3
Mendelian susceptibility to mycobacterial disease: 2014–2018 update
Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN‐γ immunity. Since 1996, disease‐causing mutations have been found in 11 genes, which, through allelicExpand
  • 58
  • 2
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23
Human IFN-γ–dependent immunity to mycobacteria is less compromised in IL-12Rβ2 or IL-23R deficiency than IL-12Rβ1 deficiency. Cytokines team up to fend off mycobacteria IFN-γ is the linchpin cytokineExpand
  • 54
  • 1
  • PDF