Gain-of-function mutations in alpk1 cause an nf-κb-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with rosah syndrome

HIGHLIGHTS

• who: Handling editor Josef S et al. from the a ciliopathy, this nosology may change as there are an increasing number of proteins that were initially labelled as u2018ciliary` but have now also been observed at the innate immune synapse, The prevalence of clinical manifestations is this cohort was likely biased by the fact that all diagnostic genetic testing in the cohort was prompted by ophthalmological examination findings, and the prevalence of specific clinical features is likely to change as more patients without prominent ocular manifestations are screened for mutations in ALPK1. Additionally, the prevalence of disease . . .
  

   

  

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