ALPK1 gene mutations drive autoinflammation with ectodermal dysplasia and progressive vision loss
ALPK1 is a kinase sensing a bacterial metabolite from the LPS biosynthesis pathway. Our favorite clinician describes a new family of patients. This rare monogenic disease associated with vision loss is still poorly known in the field of autoinflammation and this description of a new family of patients should raise awareness on the inflammatory symptoms associated with this disease.
ALPK1 gene mutations drive autoinflammation with ectodermal dysplasia and progressive vision loss
Jamilloux Y, Mathis T, Grunewald O, Dollfuss H, Henry T, Sève P, Meunier I
Journal of Clinical Immunology, 2021 June 22